Protein level identifier (NP_006507):
p.Ser294Pro
cDNA level identifier (NM_006516):
c.880T>C
Gene level identifier:
g.29558T>C
Reference, alternative allele:
A, G
Genomic location hg(19)
1:43394973 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Possibly pathogenic
CADD score:
33
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).