Protein level identifier (NP_004163):
p.Val393Ile
cDNA level identifier (NM_004172):
c.1177G>A
Gene level identifier:
g.74123G>A
Archive identifier/Other designation:
V393I
Reference, alternative allele:
G, A
Genomic location hg(19)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Possibly pathogenic
CADD score:
not available
Positive functional evidence:
not available
Number of all included cases:
2 heterozygous (2 in total).