Protein level identifier (n.a.):
p.Thr240Ala
cDNA level identifier (n.a.):
c.718A>G
Gene level identifier:
g.754454A>G
Reference, alternative allele:
T, C
Genomic location hg(19)
6:162394350 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Possibly pathogenic
CADD score:
not available
Positive functional evidence:
not available
Number of all included cases:
2 heterozygous (2 in total).