Protein level identifier (n.a.):
p.Ile712Val
cDNA level identifier (n.a.):
c.2134A>G
Gene level identifier:
g.320404A>G
Reference, alternative allele:
T, C
Genomic location hg(0)
not available
Gene name:
Consequence:
missense
Pathogenicity scoring:
Possibly pathogenic
CADD score:
23
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).