Protein level identifier (NP_001073136):
p.Leu165Glyfs*3
cDNA level identifier (NM_001079668):
c.675_676insGG
Gene level identifier:
g.3341_3342insGG
Archive identifier/Other designation:
p.Leu195GlyfsX3
Reference, alternative allele:
A, ACC
Genomic location hg(19)
14:36987012 (not available on ExAC)
Gene name:
Consequence:
frameshift
Pathogenicity scoring:
Definitely pathogenic
CADD score:
35
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).