Protein level identifier (NP_060575):
p.Arg13His
cDNA level identifier (NM_018105):
c.38G>A
Gene level identifier:
g.269G>A
Reference, alternative allele:
C, T
Genomic location hg(19)
8:42698200 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Definitely pathogenic
CADD score:
34
Number of all included cases:
2 heterozygous (2 in total).