Protein level identifier (NP_006507):
p.Gly314Ser
cDNA level identifier (NM_006516):
c.940G>A
Gene level identifier:
g.29618G>A
Archive identifier/Other designation:
c.G1119A
Reference, alternative allele:
C, T
Genomic location hg(19)
1:43394913 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Probably pathogenic
CADD score:
35
Positive functional evidence:
Number of all included cases:
5 heterozygous (5 in total).