ABCA4 c.584T>C ;(p.V195A)

Variant ID: 1-94564534-A-G

NM_000350.2(ABCA4):c.584T>C;(p.V195A)

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:

Identification of a CCDC114 variant in a Han-Chinese patient with situs inversus.

Experimental And Therapeutic Medicine
Chen, Xiangyu X; Deng, Sheng S; Xia, Hong H; Yuan, Lamei L; Xu, Hongbo H; Tang, Shiyu S; Deng, Hao H
Publication Date: 2020-10

Variant appearance in text: ABCA4: 584T>C
PubMed Link: 32855706
Variant Present in the following documents:
  • Main text
View BVdb publication page