Protein level identifier (NP_060575):
p.Pro30His
cDNA level identifier (NM_018105):
c.89C>A
Gene level identifier:
g.3962C>A
Reference, alternative allele:
G, T
Genomic location hg(19)
8:42694507 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Possibly pathogenic
CADD score:
28
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).