Protein level identifier (NP_060575):
p.Ala39Thr
cDNA level identifier (NM_018105):
c.115G>A
Gene level identifier:
g.3988G>A
Reference, alternative allele:
C, T
Genomic location hg(19)
8:42694481 (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:
2 heterozygous (2 in total).