Protein level identifier (n.a.):
p.Arg42Pro
cDNA level identifier (n.a.):
c.125G>C
Gene level identifier:
g.284416G>C
Archive identifier/Other designation:
226G>C
Reference, alternative allele:
C, 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 homozygous, 5 compound heterozygous (16 in total).