LDLR c.296C>A ;(p.S99*)

Variant ID: 19-11213445-C-A

NM_000527.4(LDLR):c.296C>A;(p.S99*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics
Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN
Publication Date: 2019-02-07

Variant appearance in text: LDLR: S99X
PubMed Link: 30665703
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Genetic diagnosis of familial hypercholesterolaemia by targeted next-generation sequencing.

Journal Of Internal Medicine
Maglio, C C; Mancina, R M RM; Motta, B M BM; Stef, M M; Pirazzi, C C; Palacios, L L; Askaryar, N N; Borén, J J; Wiklund, O O; Romeo, S S
Publication Date: 2014-10

Variant appearance in text: LDLR: Ser99x
PubMed Link: 24785115
Variant Present in the following documents:
  • Main text
  • joim0276-0396.pdf
View BVdb publication page