Protein level identifier (NP_001135811):
p.Asp210Asn
cDNA level identifier (NM_001142339):
c.628G>A
Gene level identifier:
g.178220G>A
Reference, alternative allele:
G, A
Genomic location hg(19)
18:11867174 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Probably pathogenic
CADD score:
33
Positive functional evidence:
not available
Number of all included cases:
4 heterozygous (4 in total).