Protein level identifier (NP_115785):
p.Gln126Pro
cDNA level identifier (NM_032409):
c.377A>C
Gene level identifier:
g.471A>C
Reference, alternative allele:
A, C
Genomic location hg(19)
1:20960418 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Probably pathogenic
CADD score:
12
Number of all included cases:
3 homozygous (3 in total).