Protein level identifier (NP_113606):
p.Lys862Asn
cDNA level identifier (NM_031418):
c.2586G>T
Gene level identifier:
g.466853G>T
Reference, alternative allele:
G, T
Genomic location hg(19)
11:26677681 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Possibly pathogenic
CADD score:
16
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).