Protein level identifier (NP_115785):
p.Ala168Pro
cDNA level identifier (NM_032409):
c.502G>C
Gene level identifier:
g.4502G>C
Archive identifier/Other designation:
p.A168P
Reference, alternative allele:
G, C
Genomic location hg(0)
1:20964449 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Not available
CADD score:
27
Number of all included cases:
4 homozygous (4 in total).