Protein level identifier (NP_115785):
p.Cys125Gly
cDNA level identifier (NM_032409):
c.373T>G
Gene level identifier:
g.467T>G
Reference, alternative allele:
T, G
Genomic location hg(19)
1:20960414 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Probably pathogenic
CADD score:
26
Positive functional evidence:
Number of all included cases:
1 compound heterozygous (1 in total).