LDLR c.1867dup ;(p.I623Nfs*22)

Variant ID: 19-11230788-T-TA

NM_000527.4(LDLR):c.1867dup;(p.I623Nfs*22)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: LDLR: 1867dup; Ile623fs
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Familial Hypercholesterolemia Genetic Variations and Long-Term Cardiovascular Outcomes in Patients with Hypercholesterolemia Who Underwent Coronary Angiography.

Genes
Lee, Wen-Jane WJ; Chuang, Han-Ni HN; Chen, Yi-Ming YM; Liang, Kae-Woei KW; Tung, Hsin H; Chen, Jun-Peng JP; Lee, I-Te IT; Wang, Jun-Sing JS; Lin, Ching-Heng CH; Lin, Hsueh-Ju HJ; Sheu, Wayne Huey-Herng WH; Lee, Wen-Lieng WL; Hsiao, Tzu-Hung TH
Publication Date: 2021-09-14

Variant appearance in text: LDLR: Ile623AsnfsTer22; rs1555807206
PubMed Link: 34573395
Variant Present in the following documents:
  • Main text
  • genes-12-01413.pdf
View BVdb publication page