Protein level identifier (NP_115785):
p.Ala168Pro
cDNA level identifier (NM_032409):
c.502G>C
Gene level identifier:
g.4502G>C
Reference, alternative allele:
G, C
Genomic location hg(19)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Definitely pathogenic
CADD score:
30
Number of all included cases:
3 homozygous (3 in total).