ABCA4 c.3481del ;(p.R1161Afs*3)

Variant ID: 1-94506806-CG-C

NM_000350.2(ABCA4):c.3481del;(p.R1161Afs*3)

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:

Mthfr as a modifier of the retinal phenotype of Crb1(rd8/rd8) mice.

Experimental Eye Research
Markand, Shanu S; Saul, Alan A; Tawfik, Amany A; Cui, Xuezhi X; Rozen, Rima R; Smith, Sylvia B SB
Publication Date: 2016-04

Variant appearance in text: ABCA4: 3481delC
PubMed Link: 26646559
Variant Present in the following documents:
  • Main text
View BVdb publication page