Protein level identifier (NP_000152):
p.Gln103His
cDNA level identifier (NM_000161):
c.309G>C
Gene level identifier:
g.498G>C
Reference, alternative allele:
C, G
Genomic location hg(0)
14:55369073 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Probably pathogenic
CADD score:
21
Positive functional evidence:
not available
Number of all included cases:
1 homozygous (1 in total).