Protein level identifier (NP_001073136):
p.Tyr215Asp
cDNA level identifier (NM_001079668):
c.643T>G
Gene level identifier:
g.3309T>G
Archive identifier/Other designation:
c.553T>G
Reference, alternative allele:
A, C
Genomic location hg(19)
14:36987046 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Possibly pathogenic
CADD score:
29
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).