LDLR c.910dup ;(p.D304Gfs*5)

Variant ID: 19-11218157-C-CG

NM_000527.4(LDLR):c.910dup;(p.D304Gfs*5)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Molecular Characterization of Familial Hypercholesterolemia in a North American Cohort.

Journal Of The Endocrine Society
Garg, Abhimanyu A; Fazio, Sergio S; Duell, P Barton PB; Baass, Alexis A; Udata, Chandrasekhar C; Joh, Tenshang T; Riel, Tom T; Sirota, Marina M; Dettling, Danielle D; Liang, Hong H; Garzone, Pamela D PD; Gumbiner, Barry B; Wan, Hong H
Publication Date: 2020-01-01

Variant appearance in text: LDLR: 910insG; D304Gfs*5
PubMed Link: 31993549
Variant Present in the following documents:
  • Main text
View BVdb publication page