Protein level identifier (NP_006507):
p.Arg333Gln
cDNA level identifier (NM_006516):
c.998G>A
Gene level identifier:
g.29852G>A
Reference, alternative allele:
C, T
Genomic location hg(19)
1:43394679 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Probably pathogenic
CADD score:
35
Positive functional evidence:
not available
Number of all included cases:
2 heterozygous (2 in total).