Protein level identifier (NP_115785):
p.Ala244Gly
cDNA level identifier (NM_032409):
c.731C>G
Gene level identifier:
g.6493C>G
Reference, alternative allele:
C, G
Genomic location hg(19)
1:20966440 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Probably pathogenic
CADD score:
33
Positive functional evidence:
Number of all included cases:
1 compound heterozygous (1 in total).