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Full List of Variants: 272 unique variants retrieved (displaying 50 entries per page). Scroll down to navigate to the next page(s).
Terms with a '*' next to them are explained on the Help Page .
c.-446G>T
-
Variant Type:
Point
Domain:
UTR 5
Codon Change:
G>T
Variant Effect:
No. of Patients Reported:
0
Phenotype:
None
Allele Count *:
-
Allele Number *:
-
Allele Frequency *:
-
Variant Comments & Reference:
Polymorphism. Wiewel-Verschueren et al 2017Structural Interpretation:
Structural analysis cannot be performed on this (Point | ) variant. c.-316C>G
-
Variant Type:
Point
Domain:
UTR 5
Codon Change:
C>A
Variant Effect:
No. of Patients Reported:
0
Phenotype:
None
Allele Count *:
-
Allele Number *:
-
Allele Frequency *:
-
Variant Comments & Reference:
Polymorphism. Wiewel-Verschueren et al 2017Structural Interpretation:
Structural analysis cannot be performed on this (Point | ) variant. c.-54G>A
-
Variant Type:
Point
Domain:
Promoter Region
Codon Change:
G>A
Variant Effect:
No. of Patients Reported:
2
Phenotype:
U
Allele Count *:
-
Allele Number *:
-
Allele Frequency *:
-
Variant Comments & Reference:
Mitchell et al 2006Structural Interpretation:
Structural analysis cannot be performed on this (Point | ) variant. c.-2+120G>A
-
Variant Type:
Point
Domain:
Intronic
Codon Change:
G>A
Variant Effect:
No. of Patients Reported:
0
Phenotype:
None
Allele Count *:
-
Allele Number *:
-
Allele Frequency *:
-
Variant Comments & Reference:
Polymorphism. Wiewel-Verschueren et al 2017Structural Interpretation:
Structural analysis cannot be performed on this (Point | ) variant. c.-1-138C>A
-
Variant Type:
Point
Domain:
Promoter Region
Codon Change:
C>A
Variant Effect:
No. of Patients Reported:
0
Phenotype:
None
Allele Count *:
-
Allele Number *:
-
Allele Frequency *:
-
Variant Comments & Reference:
Polymorphism. Ventura et al 2000, Quelin et al 2004Structural Interpretation:
Structural analysis cannot be performed on this (Point | ) variant. c.-1-403G>T
-
Variant Type:
Point
Domain:
Promoter Region
Codon Change:
G>T
Variant Effect:
No. of Patients Reported:
0
Phenotype:
None
Allele Count *:
-
Allele Number *:
-
Allele Frequency *:
-
Variant Comments & Reference:
Polymorphism. Tarumi et al 2003Structural Interpretation:
Structural analysis cannot be performed on this (Point | ) variant. c.-1-229T>C
-
Variant Type:
Point
Domain:
Intronic
Codon Change:
T>C
Variant Effect:
No. of Patients Reported:
0
Phenotype:
None
Allele Count *:
-
Allele Number *:
-
Allele Frequency *:
-
Variant Comments & Reference:
Polymorphism. Wiewel-Verschueren et al 2017Structural Interpretation:
Structural analysis cannot be performed on this (Point | ) variant. c.-1-273C>G
-
Variant Type:
Point
Domain:
Promoter Region
Codon Change:
C>G
Variant Effect:
No. of Patients Reported:
0
Phenotype:
None
Allele Count *:
-
Allele Number *:
-
Allele Frequency *:
-
Variant Comments & Reference:
Polymorphism. Tarumi et al 2003Structural Interpretation:
Structural analysis cannot be performed on this (Point | ) variant. c.-1-231T>C
-
Variant Type:
Point
Domain:
Promoter Region
Codon Change:
T>C
Variant Effect:
No. of Patients Reported:
0
Phenotype:
None
Allele Count *:
-
Allele Number *:
-
Allele Frequency *:
-
Variant Comments & Reference:
Polymorphism. Peretz et al 1997, Quelin et al 2004Structural Interpretation:
Structural analysis cannot be performed on this (Point | ) variant. c.-1-198T>G
-
Variant Type:
Point
Domain:
Promoter Region
Codon Change:
T>G
Variant Effect:
No. of Patients Reported:
0
Phenotype:
None
Allele Count *:
-
Allele Number *:
-
Allele Frequency *:
-
Variant Comments & Reference:
Polymorphism. Quelin et al 2004Structural Interpretation:
Structural analysis cannot be performed on this (Point | ) variant. 31.5KbDeletion
-
Variant Type:
Deletion
Domain:
Codon Change:
Variant Effect:
No. of Patients Reported:
3
Phenotype:
I
Allele Count *:
-
Allele Number *:
-
Allele Frequency *:
-
Variant Comments & Reference:
Mitchell et al 2004Structural Interpretation:
Structural analysis cannot be performed on this (Deletion | ) variant. Exons 11-15 deletion
-
Variant Type:
Deletion
Domain:
Serine Protease
Codon Change:
Variant Effect:
No. of Patients Reported:
1
Phenotype:
U
Allele Count *:
-
Allele Number *:
-
Allele Frequency *:
-
Variant Comments & Reference:
This deletion removes the entire catalytic domain of FXI and probably involves an additional stretch of DNA beyond exon 15, the last exon of the F11 gene. Zucker et al 2007Structural Interpretation:
Structural analysis cannot be performed on this (Deletion | ) variant. c.55+6T>G+10insAG
-
Variant Type:
Insertion
Domain:
Linker
Codon Change:
T>G
Variant Effect:
Frameshift
No. of Patients Reported:
1
Phenotype:
I
Allele Count *:
-
Allele Number *:
-
Allele Frequency *:
-
Variant Comments & Reference:
Castaman et al 2008Structural Interpretation:
Structural analysis cannot be performed on this (Insertion | Frameshift) variant. c.55+2T>C
-
Variant Type:
Point
Domain:
Linker
Codon Change:
T>C
Variant Effect:
No. of Patients Reported:
0
Phenotype:
U
Allele Count *:
1
Allele Number *:
31412
Allele Frequency *:
0.000032
Variant Comments & Reference:
Shao et al 2016Structural Interpretation:
Structural analysis cannot be performed on this (Point | ) variant. c.56-1209dupCA
-
Variant Type:
Duplication
Domain:
Linker
Codon Change:
dupCA
Variant Effect:
Frameshift
No. of Patients Reported:
0
Phenotype:
None
Allele Count *:
-
Allele Number *:
-
Allele Frequency *:
-
Variant Comments & Reference:
Polymorphism. Bodfish et al 1991, Peretz et al 1997Structural Interpretation:
Structural analysis cannot be performed on this (Duplication | Frameshift) variant. c.73_86del
-
Variant Type:
Deletion
Domain:
Apple 1
Codon Change:
Variant Effect:
Frameshift
No. of Patients Reported:
1
Phenotype:
I
Allele Count *:
-
Allele Number *:
-
Allele Frequency *:
-
Variant Comments & Reference:
14bp deletion in exon 3 - includes codons 7-11 and leads to a frameshift creating a premature stop at codon 13. Zucker et al 2007Structural Interpretation:
Structural analysis cannot be performed on this (Deletion | Frameshift) variant. c.78_80delGGA
-
Variant Type:
Deletion
Domain:
Apple 1
Codon Change:
delGGA
Variant Effect:
Inframe
No. of Patients Reported:
1
Phenotype:
I
Allele Count *:
-
Allele Number *:
-
Allele Frequency *:
-
Variant Comments & Reference:
The trinucleotide deletion predicts both the substitution of Lys at codon 26 with Asn and the deletion of the subsequent Asp (Lys26Asn/delAsp27). Lys26 and Asp27 are located in exposed loops of Ap1 shaping the intricate curved antiparallel beta-sheet characteristic of the Ap domains. Lys26 and Asp27 are not involved in intra-molecular salt bridges and therefore could be available for protein-protein interactions. Mutation of Lys26 to Asn and deletion of Asp27 is predicted to drastically change the architecture and electrostatic surface of the nearby region: the surface acquires a hydrophobic nature, while the beta-sheet loses the second and fifth strands. Expression studies on this mutant reveal a secretion defect and the mutant does not accumulate intracellularly suggesting an efficient degradation of retained misfolded proteins. Spena et al 2009Structural Interpretation:
Structural analysis cannot be performed on this (Deletion | Inframe) variant. c.192_193insG
-
Variant Type:
Insertion
Domain:
Apple 1
Codon Change:
insG
Variant Effect:
Frameshift
No. of Patients Reported:
1
Phenotype:
I
Allele Count *:
-
Allele Number *:
-
Allele Frequency *:
-
Variant Comments & Reference:
Quelin et al 2004Structural Interpretation:
Structural analysis cannot be performed on this (Insertion | Frameshift) variant. c.218+4A>G
-
Variant Type:
Point
Domain:
Intronic
Codon Change:
A>G
Variant Effect:
No. of Patients Reported:
3
Phenotype:
U
Allele Count *:
1
Allele Number *:
251430
Allele Frequency *:
0.000004
Variant Comments & Reference:
Kawankar et al 2016Structural Interpretation:
Structural analysis cannot be performed on this (Point | ) variant. c.218+126A>G
-
Variant Type:
Point
Domain:
Intronic
Codon Change:
A>G
Variant Effect:
No. of Patients Reported:
0
Phenotype:
None
Allele Count *:
-
Allele Number *:
-
Allele Frequency *:
-
Variant Comments & Reference:
Polymorphism. Quelin et al 2004Structural Interpretation:
Structural analysis cannot be performed on this (Point | ) variant. c.218+2T>A
-
Variant Type:
Point
Domain:
Intronic
Codon Change:
T>A
Variant Effect:
No. of Patients Reported:
1
Phenotype:
I
Allele Count *:
-
Allele Number *:
-
Allele Frequency *:
-
Variant Comments & Reference:
In silico analysis predicts the loss of the original donor splice site. Mutation might cause the activation of a putative cryptic splice site. If this holds true, the last 26 amino acids of exon 3 would be deleted, and a stop codon would occur 18 amino acids downstream the splice site mutation in exon 4. Castaman et al 2008Structural Interpretation:
Structural analysis cannot be performed on this (Point | ) variant. c.1716+250G>A
-
Variant Type:
Point
Domain:
Intronic
Codon Change:
G>A
Variant Effect:
No. of Patients Reported:
0
Phenotype:
None
Allele Count *:
-
Allele Number *:
-
Allele Frequency *:
-
Variant Comments & Reference:
Polymorphism. Wiewel-Verschueren et al 2017Structural Interpretation:
Structural analysis cannot be performed on this (Point | ) variant. c.1716+252C>T
-
Variant Type:
Point
Domain:
Intronic
Codon Change:
C>T
Variant Effect:
No. of Patients Reported:
0
Phenotype:
None
Allele Count *:
-
Allele Number *:
-
Allele Frequency *:
-
Variant Comments & Reference:
Polymorphism. Wiewel-Verschueren et al 2017Structural Interpretation:
Structural analysis cannot be performed on this (Point | ) variant. c.*265A>G
-
Variant Type:
Point
Domain:
UTR 3
Codon Change:
A>G
Variant Effect:
No. of Patients Reported:
0
Phenotype:
None
Allele Count *:
-
Allele Number *:
-
Allele Frequency *:
-
Variant Comments & Reference:
Polymorphism. Wiewel-Verschueren et al 2017Structural Interpretation:
Structural analysis cannot be performed on this (Point | ) variant. c.*296G>C
-
Variant Type:
Point
Domain:
UTR 3
Codon Change:
G>C
Variant Effect:
No. of Patients Reported:
0
Phenotype:
None
Allele Count *:
-
Allele Number *:
-
Allele Frequency *:
-
Variant Comments & Reference:
Polymorphism. Wiewel-Verschueren et al 2017Structural Interpretation:
Structural analysis cannot be performed on this (Point | ) variant. c.301_307dupAAGCAAT
-
Variant Type:
Duplication
Domain:
Apple 1
Codon Change:
dupAAGCAAT
Variant Effect:
Frameshift
No. of Patients Reported:
2
Phenotype:
I
Allele Count *:
-
Allele Number *:
-
Allele Frequency *:
-
Variant Comments & Reference:
Ventura et al 2000Structural Interpretation:
Structural analysis cannot be performed on this (Duplication | Frameshift) variant. c.325+2del124
-
Variant Type:
Deletion
Domain:
Intronic
Codon Change:
Variant Effect:
No. of Patients Reported:
1
Phenotype:
U
Allele Count *:
-
Allele Number *:
-
Allele Frequency *:
-
Variant Comments & Reference:
Lin et al 2020Structural Interpretation:
Structural analysis cannot be performed on this (Deletion | ) variant. c.326-1G>A
-
Variant Type:
Point
Domain:
Intronic
Codon Change:
G>A
Variant Effect:
No. of Patients Reported:
4
Phenotype:
U
Allele Count *:
2
Allele Number *:
251096
Allele Frequency *:
0.000008
Variant Comments & Reference:
Shao et al 2016Structural Interpretation:
Structural analysis cannot be performed on this (Point | ) variant. c.327delT
-
Variant Type:
Deletion
Domain:
Linker
Codon Change:
delT
Variant Effect:
Frameshift
No. of Patients Reported:
0
Phenotype:
U
Allele Count *:
-
Allele Number *:
-
Allele Frequency *:
-
Variant Comments & Reference:
Induces formation of premature termination codon. Shao et al 2016Structural Interpretation:
Structural analysis cannot be performed on this (Deletion | Frameshift) variant. c.485+5G>C
-
Variant Type:
Point
Domain:
Intronic
Codon Change:
G>C
Variant Effect:
No. of Patients Reported:
0
Phenotype:
U
Allele Count *:
-
Allele Number *:
-
Allele Frequency *:
-
Variant Comments & Reference:
Pugh et al 1995Structural Interpretation:
Structural analysis cannot be performed on this (Point | ) variant. c.485+122T>A
-
Variant Type:
Point
Domain:
Intronic
Codon Change:
T>A
Variant Effect:
No. of Patients Reported:
0
Phenotype:
None
Allele Count *:
-
Allele Number *:
-
Allele Frequency *:
-
Variant Comments & Reference:
Polymorphism. Wiewel-Verschueren et al 2017Structural Interpretation:
Structural analysis cannot be performed on this (Point | ) variant. c.485+181T>C
-
Variant Type:
Point
Domain:
Intronic
Codon Change:
T>C
Variant Effect:
No. of Patients Reported:
0
Phenotype:
None
Allele Count *:
-
Allele Number *:
-
Allele Frequency *:
-
Variant Comments & Reference:
Polymorphism. Wiewel-Verschueren et al 2017Structural Interpretation:
Structural analysis cannot be performed on this (Point | ) variant. c.485+23G>C
-
Variant Type:
Point
Domain:
Intronic
Codon Change:
G>C
Variant Effect:
No. of Patients Reported:
0
Phenotype:
None
Allele Count *:
-
Allele Number *:
-
Allele Frequency *:
-
Variant Comments & Reference:
Polymorphism. Cargill et al 1999Structural Interpretation:
Structural analysis cannot be performed on this (Point | ) variant. c.485+1G>A
-
Variant Type:
Point
Domain:
Intronic
Codon Change:
G>A
Variant Effect:
No. of Patients Reported:
0
Phenotype:
U
Allele Count *:
-
Allele Number *:
-
Allele Frequency *:
-
Variant Comments & Reference:
Shao et al 2016Structural Interpretation:
Structural analysis cannot be performed on this (Point | ) variant. c.486-2A>G
-
Variant Type:
Point
Domain:
Intronic
Codon Change:
A>G
Variant Effect:
No. of Patients Reported:
3
Phenotype:
U
Allele Count *:
-
Allele Number *:
-
Allele Frequency *:
-
Variant Comments & Reference:
Saunders et al 2005Structural Interpretation:
Structural analysis cannot be performed on this (Point | ) variant. c.486-431G>A
-
Variant Type:
Point
Domain:
Intronic
Codon Change:
G>A
Variant Effect:
No. of Patients Reported:
0
Phenotype:
None
Allele Count *:
-
Allele Number *:
-
Allele Frequency *:
-
Variant Comments & Reference:
Polymorphism. Butler & Parsons 1990, Peretz et al 1997, Bolton-Maggs et al 2004Structural Interpretation:
Structural analysis cannot be performed on this (Point | ) variant. c.486-88T>C
-
Variant Type:
Point
Domain:
Intronic
Codon Change:
T>C
Variant Effect:
No. of Patients Reported:
0
Phenotype:
None
Allele Count *:
-
Allele Number *:
-
Allele Frequency *:
-
Variant Comments & Reference:
Polymorphism. Wiewel-Verschueren et al 2017Structural Interpretation:
Structural analysis cannot be performed on this (Point | ) variant. c.486-181C>T
-
Variant Type:
Point
Domain:
Intronic
Codon Change:
C>T
Variant Effect:
No. of Patients Reported:
0
Phenotype:
None
Allele Count *:
-
Allele Number *:
-
Allele Frequency *:
-
Variant Comments & Reference:
Polymorphism. Wiewel-Verschueren et al 2017Structural Interpretation:
Structural analysis cannot be performed on this (Point | ) variant. c.486-361C>T
-
Variant Type:
Point
Domain:
Intronic
Codon Change:
C>T
Variant Effect:
No. of Patients Reported:
0
Phenotype:
None
Allele Count *:
-
Allele Number *:
-
Allele Frequency *:
-
Variant Comments & Reference:
Polymorphism. Bolton-Maggs et al 2004Structural Interpretation:
Structural analysis cannot be performed on this (Point | ) variant. c.595+3A>G
-
Variant Type:
Point
Domain:
Intronic
Codon Change:
A>G
Variant Effect:
No. of Patients Reported:
6
Phenotype:
U
Allele Count *:
7
Allele Number *:
243238
Allele Frequency *:
0.000029
Variant Comments & Reference:
Abolishes the native donor splice site causing the skipping of the affected exon, ultimately resulting in a frameshift and premature chain termination. This mutation is thus predicted to lead to the synthesis of truncated FXI protein. Such proteins might be recognised as abnormal by cellular quality control systems, resulting in intracellular retention and subsequent protein degradation. Guella et al 2008, Tiscia et al 2017Structural Interpretation:
Structural analysis cannot be performed on this (Point | ) variant. c.596-8T>A
-
Variant Type:
Point
Domain:
Apple 3
Codon Change:
T>A
Variant Effect:
No. of Patients Reported:
1
Phenotype:
U
Allele Count *:
-
Allele Number *:
-
Allele Frequency *:
-
Variant Comments & Reference:
Shao et al 2016Structural Interpretation:
Structural analysis cannot be performed on this (Point | ) variant. c.644_649delTCGACA
p.Ile215_Asp216del-
Variant Type:
Deletion
Domain:
Apple 3
Codon Change:
delTCGACA
Variant Effect:
Inframe
No. of Patients Reported:
2
Phenotype:
I
Allele Count *:
2
Allele Number *:
31400
Allele Frequency *:
0.000064
Variant Comments & Reference:
Zadra et al 2004Structural Interpretation:
Structural analysis cannot be performed on this (Deletion | Inframe) variant. c.717insT
-
Variant Type:
Insertion
Domain:
Apple 3
Codon Change:
insT
Variant Effect:
Frameshift
No. of Patients Reported:
1
Phenotype:
U
Allele Count *:
-
Allele Number *:
-
Allele Frequency *:
-
Variant Comments & Reference:
This mutation causes a frameshift at Thr240 and likely severely disrupts synthesis of normal protein. Duncan et al 2008Structural Interpretation:
Structural analysis cannot be performed on this (Insertion | Frameshift) variant. c.769delC
-
Variant Type:
Deletion
Domain:
Apple 3
Codon Change:
delC
Variant Effect:
Frameshift
No. of Patients Reported:
1
Phenotype:
U
Allele Count *:
-
Allele Number *:
-
Allele Frequency *:
-
Variant Comments & Reference:
Vasileiadis et al 2009Structural Interpretation:
Structural analysis cannot be performed on this (Deletion | Frameshift) variant. c.865+2delAAACTGAGAGT
-
Variant Type:
Deletion
Domain:
Intronic
Codon Change:
delAAACTGAGAGT
Variant Effect:
Frameshift
No. of Patients Reported:
0
Phenotype:
U
Allele Count *:
-
Allele Number *:
-
Allele Frequency *:
-
Variant Comments & Reference:
11 base pair deletion in intron 8. Castaman et al 2005 (ISTH Abstract)Structural Interpretation:
Structural analysis cannot be performed on this (Deletion | Frameshift) variant. c.907delG
-
Variant Type:
Deletion
Domain:
Apple 4
Codon Change:
delG
Variant Effect:
Frameshift
No. of Patients Reported:
1
Phenotype:
U
Allele Count *:
-
Allele Number *:
-
Allele Frequency *:
-
Variant Comments & Reference:
Deletion of nucleotide G in codon 303 causes a frameshift and results in premature chain termination 5 codons downstream. Quelin et al 2005Structural Interpretation:
Structural analysis cannot be performed on this (Deletion | Frameshift) variant. c.918delG
-
Variant Type:
Deletion
Domain:
Apple 4
Codon Change:
delG
Variant Effect:
Frameshift
No. of Patients Reported:
1
Phenotype:
U
Allele Count *:
-
Allele Number *:
-
Allele Frequency *:
-
Variant Comments & Reference:
A 1 bp deletion (G) after codon 306 induces a frameshift and leads to premature chain termination. It is predicted that, if secreted, this variant would lack an active catalytic domain. Such FXI mutations generally result in a type I disorder through non-secretion or increased mRNA degradation. Hill et al 2005Structural Interpretation:
Structural analysis cannot be performed on this (Deletion | Frameshift) variant. c.933_951dupAAAAAGTCACGAGGCCTG
-
Variant Type:
Duplication
Domain:
Apple 4
Codon Change:
dupAAAAAGTCACGAGGCCTG
Variant Effect:
Frameshift
No. of Patients Reported:
1
Phenotype:
U
Allele Count *:
-
Allele Number *:
-
Allele Frequency *:
-
Variant Comments & Reference:
19 nucleotide duplication disrupts the reading frame in the Ap4 domain. Saunders et al 2009Structural Interpretation:
Structural analysis cannot be performed on this (Duplication | Frameshift) variant. c.961_962delTG
p.Cys321HisfsTer37-
Variant Type:
Deletion
Domain:
Apple 4
Codon Change:
delTG
Variant Effect:
Frameshift
No. of Patients Reported:
2
Phenotype:
U
Allele Count *:
9
Allele Number *:
251360
Allele Frequency *:
0.000036
Variant Comments & Reference:
Deletion causes a frameshift in exon 9 that introduces a termination codon in exon 10 - resulting in synthesis of a truncated protein. Truncated protein is likely subjected to nonsense-mediated decay. Quelin et al 2006Structural Interpretation:
Structural analysis cannot be performed on this (Deletion | Frameshift) variant. c.1026dupG
-
Variant Type:
Duplication
Domain:
Apple 4
Codon Change:
dupG
Variant Effect:
Frameshift
No. of Patients Reported:
2
Phenotype:
U
Allele Count *:
-
Allele Number *:
-
Allele Frequency *:
-