Protein level identifier (NP_899200):
p.Ala726Thr
cDNA level identifier (NM_183357):
c.2176G>A
Gene level identifier:
g.130005G>A
Archive identifier/Other designation:
p.A726T
Reference, alternative allele:
C, T
Genomic location hg(19)
3:123038601 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Definitely pathogenic
CADD score:
not available
Positive functional evidence:
not available
Number of all included cases:
15 heterozygous (15 in total).