ABCA4 c.3211_3212insAA ;(p.S1071*)

Variant ID: 1-94508433-G-GTT

NM_000350.2(ABCA4):c.3211_3212insAA;(p.S1071*)

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:

Generation of two iPS cell lines (FRIMOi003-A and FRIMOi004-A) derived from Stargardt patients carrying ABCA4 compound heterozygous mutations.

Stem Cell Research
Riera, Marina M; Patel, Achchhe A; Burés-Jelstrup, Anniken A; Corcostegui, Borja B; Chang, Stanley S; Pomares, Esther E; Corneo, Barbara B; Sparrow, Janet R JR
Publication Date: 2019-04

Variant appearance in text: ABCA4: Ser1071fs*14
PubMed Link: 30798147
Variant Present in the following documents:
  • Main text
  • nihms-1040295.pdf
View BVdb publication page