Protein level identifier (NP_001073136):
p.Gln317Profs*122
cDNA level identifier (NM_001079668):
c.949dupC
Gene level identifier:
g.3615dupC
Archive identifier/Other designation:
859_860insC
Reference, alternative allele:
T, TG
Genomic location hg(19)
14:36986738 (not available on ExAC)
Gene name:
Consequence:
unknown effect
Pathogenicity scoring:
Definitely pathogenic
CADD score:
34
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).