LDLR c.1035G>A ;(p.Q345=)

Variant ID: 19-11221422-G-A

NM_000527.4(LDLR):c.1035G>A;(p.Q345=)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


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:
PubMed Link: 17142622
Variant Present in the following documents:
  • Main text
View BVdb publication page