Protein level identifier (n.a.):
p.Arg127Trp
cDNA level identifier (n.a.):
c.379C>T
Gene level identifier:
g.7476C>T
Archive identifier/Other designation:
R127W
Reference, alternative allele:
C, T
Genomic location hg(19)
23:19369486 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Possibly pathogenic
CADD score:
24
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).