Protein level identifier (n.a.):
p.Gly262Val
cDNA level identifier (n.a.):
c.785G>T
Gene level identifier:
g.43733G>T
Reference, alternative allele:
C, A
Genomic location
3:33094990 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Probably pathogenic
CADD score:
27
Positive functional evidence:
not available
Number of all included cases:
1 compound heterozygous (1 in total).