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ABCA1 c.1918A>T ;(p.M640L)
Variant ID: 9-107591394-T-A
NM_005502.3(
ABCA1
):c.1918A>T;(p.M640L)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Segregation of LIPG, CETP, and GALNT2 mutations in Caucasian families with extremely high HDL cholesterol.
Plos One
Tietjen, Ian I; Hovingh, G Kees GK; Singaraja, Roshni R RR; Radomski, Chris C; Barhdadi, Amina A; McEwen, Jason J; Chan, Elden E; Mattice, Maryanne M; Legendre, Annick A; Franchini, Patrick L PL; Dubé, Marie-Pierre MP; Kastelein, John J P JJ; Hayden, Michael R MR
Publication Date: 2012
Variant appearance in text: ABCA1: M640L
PubMed Link:
22952570
Variant Present in the following documents:
Main text
pone.0037437.pdf
View BVdb publication page