LDLR c.680_682delinsCGGTATGGACTGCA ;(p.D227Afs*42)

Variant ID: 19-11216261-GACG-GCGGTATGGACTGCA

NM_000527.4(LDLR):c.680_682delinsCGGTATGGACTGCA;(p.D227Afs*42)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


A 72-Year-Old Patient with Longstanding, Untreated Familial Hypercholesterolemia but no Coronary Artery Calcification: A Case Report.

Cureus
Johnson, Kipp W KW; Dudley, Joel T JT; Bobe, Jason R JR
Publication Date: 2018-04-09

Variant appearance in text: rs879254637
PubMed Link: 29888156
Variant Present in the following documents:
  • Main text
  • cureus-0010-00000002452.pdf
View BVdb publication page



Genetic causes of familial hypercholesterolaemia in patients in the UK: relation to plasma lipid levels and coronary heart disease risk.

Journal Of Medical Genetics
Humphries, S E SE; Whittall, R A RA; Hubbart, C S CS; Maplebeck, S S; Cooper, J A JA; Soutar, A K AK; Naoumova, R R; Thompson, G R GR; Seed, M M; Durrington, P N PN; Miller, J P JP; Betteridge, D J B DJ; Neil, H A W HA; ,
Publication Date: 2006-12

Variant appearance in text: N/A
PubMed Link: 17142622
Variant Present in the following documents:
View BVdb publication page