ABCA4 c.66G>T ;(p.K22N)

Variant ID: 1-94586536-C-A

NM_000350.2(ABCA4):c.66G>T;(p.K22N)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Integrated molecular characterization reveals potential therapeutic strategies for pulmonary sarcomatoid carcinoma.

Nature Communications
Yang, Zhenlin Z; Xu, Jiachen J; Li, Lin L; Li, Renda R; Wang, Yalong Y; Tian, Yanhua Y; Guo, Wei W; Wang, Zhijie Z; Tan, Fengwei F; Ying, Jianming J; Jiao, Yuchen Y; Gao, Shugeng S; Wang, Jie J; Gao, Yibo Y; He, Jie J
Publication Date: 2020-09-28

Variant appearance in text: ABCA4: 66G>T; Lys22Asn
PubMed Link: 32985499
Variant Present in the following documents:
  • 41467_2020_18702_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Variants in the ABCA4 gene in a Brazilian population with Stargardt disease.

Molecular Vision
Salles, Mariana Vallim MV; Motta, Fabiana Louise FL; Martin, Renan R; Filippelli-Silva, Rafael R; Dias da Silva, Elton E; Varela, Patricia P; Costa, Kárita Antunes KA; Chiang, John PeiWen JP; Pesquero, João Bosco JB; Sallum, Juliana-Maria Ferraz JF
Publication Date: 2018

Variant appearance in text: ABCA4: 66G>T
PubMed Link: 30093795
Variant Present in the following documents:
  • Main text
  • mv-v24-546.pdf
View BVdb publication page