Search Results: 2 unique variants retrieved
Terms with a '*' next to them are explained on the Help Page .
c.122C>T
p.Pro41Leu (Legacy AA No. 23)
Variant Type: 
Point
Domain: 
Apple 1
Codon Change: 
C>T
Variant Effect: 
Missense
No. of Patients Reported: 
1
Phenotype: 
I
Allele Count *: 
-
Allele Number *: 
-
Allele Frequency *: 
-
Variant Comments & Reference:
Quelin et al 2005 c.122C>A
p.Pro41Gln (Legacy AA No. 23)
Variant Type: 
Point
Domain: 
Apple 1
Codon Change: 
C>A
Variant Effect: 
Missense
No. of Patients Reported: 
1
Phenotype: 
U
Allele Count *: 
-
Allele Number *: 
-
Allele Frequency *: 
-