Protein level identifier (NP_115785):
p.His360Arg
cDNA level identifier (NM_032409):
c.1079A>G
Gene level identifier:
g.12225A>G
Reference, alternative allele:
A, G
Genomic location hg(19)
1:20972172 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Probably pathogenic
CADD score:
25
Positive functional evidence:
not available
Number of all included cases:
1 compound heterozygous (1 in total).