Protein level identifier (NP_001135811):
p.Val172Ile
cDNA level identifier (NM_001142339):
c.514G>A
Gene level identifier:
g.173462G>A
Reference, alternative allele:
G, A
Genomic location hg(19)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Possibly pathogenic
CADD score:
18
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).