Protein level identifier (NP_000208):
p.Ile262Met
cDNA level identifier (NM_000217):
c.786C>G
Gene level identifier:
g.2260C>G
Reference, alternative allele:
C, G
Genomic location hg(19)
12:5021330 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Probably pathogenic
CADD score:
24
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).