Protein level identifier (NP_060575):
p.Asn136Lys
cDNA level identifier (NM_018105):
c.408C>G
Gene level identifier:
g.5130C>G
Reference, alternative allele:
G, C
Genomic location hg(19)
8:42693339 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Probably pathogenic
CADD score:
22
Positive functional evidence:
Number of all included cases:
2 heterozygous (2 in total).