Protein level identifier (NP_001073136):
p.Val105Glyext*332
cDNA level identifier (NM_001079668):
c.313dupG
Gene level identifier:
g.2015dupG
Reference, alternative allele:
A, AC
Genomic location hg(19)
14:36988338 (not available on ExAC)
Gene name:
Consequence:
unknown effect
Pathogenicity scoring:
Definitely pathogenic
CADD score:
33
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).