Protein level identifier (NP_060575):
p.Ser21Thr
cDNA level identifier (NM_018105):
c.61T>A
Gene level identifier:
g.292T>A
Reference, alternative allele:
A, T
Genomic location hg(19)
8:42698177 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Probably pathogenic
CADD score:
19
Positive functional evidence:
Number of all included cases:
2 heterozygous (2 in total).