ABCA1 c.98T>C ;(p.L33P)

Variant ID: 9-107651445-A-G

NM_005502.3(ABCA1):c.98T>C;(p.L33P)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Association between Genetic Variants and Peripheral Neuropathy in Patients with NSCLC Treated with First-Line Platinum-Based Therapy.

Genes
de Jong, Corine C; Herder, Gerarda J M GJM; van Haarlem, Simone W A SWA; van der Meer, Femke S FS; van Lindert, Anne S R ASR; Ten Heuvel, Alexandra A; Brouwer, Jan J; Egberts, Toine C G TCG; Deneer, Vera H M VHM
Publication Date: 2023-01-07

Variant appearance in text: ABCA1: L33P
PubMed Link: 36672910
Variant Present in the following documents:
  • genes-14-00170.pdf
View BVdb publication page



Multiancestry exome sequencing reveals INHBE mutations associated with favorable fat distribution and protection from diabetes.

Nature Communications
Akbari, Parsa P; Sosina, Olukayode A OA; Bovijn, Jonas J; Landheer, Karl K; Nielsen, Jonas B JB; Kim, Minhee M; Aykul, Senem S; De, Tanima T; Haas, Mary E ME; Hindy, George G; Lin, Nan N; Dinsmore, Ian R IR; Luo, Jonathan Z JZ; Hectors, Stefanie S; Geraghty, Benjamin B; Germino, Mary M; Panagis, Lampros L; Parasoglou, Prodromos P; Walls, Johnathon R JR; Halasz, Gabor G; Atwal, Gurinder S GS; , ; , ; Jones, Marcus M; LeBlanc, Michelle G MG; Still, Christopher D CD; Carey, David J DJ; Giontella, Alice A; Orho-Melander, Marju M; Berumen, Jaime J; Kuri-Morales, Pablo P; Alegre-Díaz, Jesus J; Torres, Jason M JM; Emberson, Jonathan R JR; Collins, Rory R; Rader, Daniel J DJ; Zambrowicz, Brian B; Murphy, Andrew J AJ; Balasubramanian, Suganthi S; Overton, John D JD; Reid, Jeffrey G JG; Shuldiner, Alan R AR; Cantor, Michael M; Abecasis, Goncalo R GR; Ferreira, Manuel A R MAR; Sleeman, Mark W MW; Gusarova, Viktoria V; Altarejos, Judith J; Harris, Charles C; Economides, Aris N AN; Idone, Vincent V; Karalis, Katia K; Della Gatta, Giusy G; Mirshahi, Tooraj T; Yancopoulos, George D GD; Melander, Olle O; Marchini, Jonathan J; Tapia-Conyer, Roberto R; Locke, Adam E AE; Baras, Aris A; Verweij, Niek N; Lotta, Luca A LA
Publication Date: 2022-08-23

Variant appearance in text: ABCA1: 98T>C
PubMed Link: 35999217
Variant Present in the following documents:
  • 41467_2022_32398_MOESM4_ESM.xlsx, sheet 4
View BVdb publication page



Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018

Variant appearance in text: ABCA1: 98T>C
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_7.xlsx, sheet 1
View BVdb publication page



Novel risk factors for premature peripheral arterial occlusive disease in non-diabetic patients: a case-control study.

Plos One
Bérard, Annie M AM; Bedel, Aurélie A; Le Trequesser, Rémi R; Freyburger, Geneviève G; Nurden, Alan A; Colomer, Sylvie S; Guérin, Viviane V; Vergnes, Marie-Christine MC; Becker, François F; Camelot, Gabriel G; Bressolette, Luc L; Lacroix, Philippe P; Cambou, Jean-Pierre JP; Bura-Rivière, Alessandra A; Emmerich, Joseph J; Darmon, Michel M; Deletraz, Anne-Marie AM; Mesli, Samir S; Colombies, Brigitte B; Vanbrugghe, Virginie V; Conri, Claude C; Constans, Joël J
Publication Date: 2013

Variant appearance in text: ABCA1: L33P
PubMed Link: 23533563
Variant Present in the following documents:
  • Main text
View BVdb publication page



Investigation of 89 candidate gene variants for effects on all-cause mortality following acute coronary syndrome.

Bmc Medical Genetics
Morgan, Thomas M TM; Xiao, Lan L; Lyons, Patrick P; Kassebaum, Bethany B; Krumholz, Harlan M HM; Spertus, John A JA
Publication Date: 2008-07-12

Variant appearance in text: ABCA1: Leu33Pro
PubMed Link: 18620593
Variant Present in the following documents:
  • Main text
View BVdb publication page