Protein level identifier (n.a.):
p.Cys441Arg
cDNA level identifier (n.a.):
c.1321T>C
Gene level identifier:
g.1377596T>C
Archive identifier/Other designation:
T1422C
Reference, alternative allele:
A, G
Genomic location hg(19)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Definitely pathogenic
CADD score:
not available
Positive functional evidence:
not available
Number of all included cases:
11 compound heterozygous (11 in total).