Protein level identifier (NP_055542):
p.Gly1652Asp
cDNA level identifier (NM_014727):
c.4955G>A
Gene level identifier:
g.11985G>A
Reference, alternative allele:
G, A
Genomic location hg(0)
19:36220905 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Probably pathogenic
CADD score:
28
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).