Protein level identifier (n.a.):
p.Val1396Met
cDNA level identifier (n.a.):
c.4186G>A
Gene level identifier:
g.362474G>A
Reference, alternative allele:
C, T
Genomic location hg(0)
not available
Gene name:
Consequence:
missense
Pathogenicity scoring:
Probably pathogenic
CADD score:
27
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).