Protein level identifier (NP_115785):
p.Val317Ile
cDNA level identifier (NM_032409):
c.949G>A
Gene level identifier:
g.11208G>A
Reference, alternative allele:
G, A
Genomic location hg(19)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Probably pathogenic
CADD score:
33
Positive functional evidence:
Number of all included cases:
1 compound heterozygous (1 in total).