Protein level identifier (NP_060575):
p.His150Pro
cDNA level identifier (NM_018105):
c.449A>C
Gene level identifier:
g.5171A>C
Reference, alternative allele:
T, G
Genomic location hg(19)
8:42693298 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Possibly pathogenic
CADD score:
15
Positive functional evidence:
not available
Number of all included cases:
2 heterozygous (2 in total).