ABCA1 c.*1911C>T

Variant ID: 9-107544685-G-A

NM_005502.3(ABCA1):c.*1911C>T

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Frequent mutation of hypoxia-related genes in persistent pulmonary hypertension of the newborn.

Respiratory Research
Wang, Mingbang M; Zhuang, Deyi D; Mei, Mei M; Ma, Haiyan H; Li, Zixiu Z; He, Fusheng F; Cheng, Guoqiang G; Lin, Guang G; Zhou, Wenhao W
Publication Date: 2020-02-13

Variant appearance in text: rs4149340
PubMed Link: 32054482
Variant Present in the following documents:
  • 12931_2020_1314_MOESM1_ESM.xlsx, sheet 7
View BVdb publication page



Next-generation sequencing identified novel Desmoplakin frame-shift variant in patients with Arrhythmogenic cardiomyopathy.

Bmc Cardiovascular Disorders
Lin, Xiaoping X; Ma, Yuankun Y; Cai, Zhejun Z; Wang, Qiyuan Q; Wang, Lihua L; Huo, Zhaoxia Z; Hu, Dan D; Wang, Jian'an J; Xiang, Meixiang M
Publication Date: 2020-02-11

Variant appearance in text: rs4149340
PubMed Link: 32046637
Variant Present in the following documents:
  • 12872_2020_1369_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



3'UTR Polymorphism in ACSL1 Gene Correlates with Expression Levels and Poor Clinical Outcome in Colon Cancer Patients.

Plos One
Vargas, Teodoro T; Moreno-Rubio, Juan J; Herranz, Jesús J; Cejas, Paloma P; Molina, Susana S; Mendiola, Marta M; Burgos, Emilio E; Custodio, Ana B AB; De Miguel, María M; Martín-Hernández, Roberto R; Reglero, Guillermo G; Feliu, Jaime J; Ramírez de Molina, Ana A
Publication Date: 2016

Variant appearance in text: rs4149340
PubMed Link: 27992526
Variant Present in the following documents:
  • Main text
  • pone.0168423.pdf
View BVdb publication page