Protein level identifier (NP_055542):
p.Gln747Arg
cDNA level identifier (NM_014727):
c.2240A>G
Gene level identifier:
g.3569A>G
Reference, alternative allele:
A, G
Genomic location hg(0)
19:36212489 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Possibly pathogenic
CADD score:
18
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).