Protein level identifier (NP_006507):
p.Asn317Thr
cDNA level identifier (NM_006516):
c.950A>C
Gene level identifier:
g.29628A>C
Reference, alternative allele:
T, G
Genomic location hg(19)
1:43394903 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Probably pathogenic
CADD score:
28
Positive functional evidence:
Number of all included cases:
3 heterozygous (3 in total).