LDLR c.2074C>T ;(p.P692S)

Variant ID: 19-11231132-C-T

NM_000527.4(LDLR):c.2074C>T;(p.P692S)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


A trimeric Rab7 GEF controls NPC1-dependent lysosomal cholesterol export.

Nature Communications
van den Boomen, Dick J H DJH; Sienkiewicz, Agata A; Berlin, Ilana I; Jongsma, Marlieke L M MLM; van Elsland, Daphne M DM; Luzio, J Paul JP; Neefjes, Jacques J C JJC; Lehner, Paul J PJ
Publication Date: 2020-11-03

Variant appearance in text: LDLR: P692S
PubMed Link: 33144569
Variant Present in the following documents:
  • Main text
  • 41467_2020_Article_19032.pdf
  • 41467_2020_19032_MOESM1_ESM.pdf
View BVdb publication page



Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10

Variant appearance in text: LDLR: 2074C>T
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page