Search Results: 2 unique variants retrieved
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c.452A>C
p.Tyr151Ser (Legacy AA No. 133)
Variant Type:
Point
Domain:
Apple 2
Codon Change:
A>C
Variant Effect:
Missense
No. of Patients Reported:
4
Phenotype:
I
Allele Count *:
-
Allele Number *:
-
Allele Frequency *:
-
Variant Comments & Reference:
Transfection experiments with mutant protein confirmed it is expressed at lower levels comparable to normal FXI. Expression studies confirm type I phenotype (CRM-). Bolton-Maggs et al 2003 (Abstract), Mitchell et al 2006 c.452A>G
p.Tyr151Cys (Legacy AA No. 133)
Variant Type:
Point
Domain:
Apple 2
Codon Change:
A>G
Variant Effect:
Missense
No. of Patients Reported:
2
Phenotype:
U
Allele Count *:
-
Allele Number *:
-
Allele Frequency *:
-