ABCA1 c.1400dup ;(p.L467Ffs*12)

Variant ID: 9-107594963-C-CA

NM_005502.3(ABCA1):c.1400dup;(p.L467Ffs*12)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Genomic stability at the coding regions of the multidrug transporter gene ABCB1: insights into the development of alternative drug resistance mechanisms in human leukemia cells.

Cancer Drug Resistance (Alhambra, Calif.)
Chen, Kevin G KG; Duran, George E GE; Mogul, Mark J MJ; Wang, Yan C YC; Ross, Kevin L KL; Jaffrézou, Jean-Pierre JP; Huff, Lyn M LM; Johnson, Kory R KR; Fojo, Tito T; Lacayo, Norman J NJ; Sikic, Branimir I BI
Publication Date: 2020

Variant appearance in text: rs759099617
PubMed Link: 34541464
Variant Present in the following documents:
  • cdr-3-959-SupplementaryMaterials.xlsx, sheet 1
  • cdr-3-959-SupplementaryMaterials.xlsx, sheet 6
View BVdb publication page



The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.

Npj Genomic Medicine
Xiao, Qingyang Q; Lauschke, Volker M VM
Publication Date: 2021-06-02

Variant appearance in text: ABCA1: Leu467PhefsTer12; rs759099617
PubMed Link: 34078906
Variant Present in the following documents:
  • 41525_2021_203_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia.

Nature Neuroscience
Genovese, Giulio G; Fromer, Menachem M; Stahl, Eli A EA; Ruderfer, Douglas M DM; Chambert, Kimberly K; Landén, Mikael M; Moran, Jennifer L JL; Purcell, Shaun M SM; Sklar, Pamela P; Sullivan, Patrick F PF; Hultman, Christina M CM; McCarroll, Steven A SA
Publication Date: 2016-11

Variant appearance in text: ABCA1: 1400dupT; Leu467fs
PubMed Link: 27694994
Variant Present in the following documents:
  • NIHMS815183-supplement-supp_table3.xlsx, sheet 1
View BVdb publication page