Protein level identifier (NP_000152):
p.Thr209Ile
cDNA level identifier (NM_000161):
c.626C>T
Gene level identifier:
g.57085C>T
Reference, alternative allele:
G, A
Genomic location hg(0)
14:55312486 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Possibly pathogenic
CADD score:
28
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).