Protein level identifier (NP_002599):
p.Leu9Arg
cDNA level identifier (NM_002608):
c.26T>G
Gene level identifier:
g.814T>G
Reference, alternative allele:
A, C
Genomic location hg(19)
22:39639943 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Probably pathogenic
CADD score:
not available
Positive functional evidence:
Number of all included cases:
4 heterozygous (4 in total).