Protein level identifier (NP_000336):
p.Gly51Asp
cDNA level identifier (NM_000345):
c.152G>A
Gene level identifier:
g.10162G>A
Reference, alternative allele:
C, T
Genomic location hg(19)
4:90749305 (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:
5 heterozygous, 2 n.a. (7 in total).