Protein level identifier (NP_060575):
p.Val2Gly
cDNA level identifier (NM_018105):
c.5T>G
Gene level identifier:
g.236T>G
Reference, alternative allele:
A, C
Genomic location hg(19)
8:42698233 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Possibly pathogenic
CADD score:
25
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).