Protein level identifier (NP_001073136):
p.Tyr204*
cDNA level identifier (NM_001079668):
c.612delC
Gene level identifier:
g.3278delC
Reference, alternative allele:
CG, C
Genomic location hg(19)
14:36987076 (not available on ExAC)
Gene name:
Consequence:
nonsense
Pathogenicity scoring:
Probably pathogenic
CADD score:
26
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).