Protein level identifier (NP_006507):
p.Thr137Ala
cDNA level identifier (NM_006516):
c.409A>G
Gene level identifier:
g.28127A>G
Reference, alternative allele:
T, C
Genomic location hg(19)
1:43396404 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Probably pathogenic
CADD score:
24
Positive functional evidence:
not available
Number of all included cases:
2 heterozygous (2 in total).