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ABCA4 c.1581C>T ;(p.S527=)
Variant ID: 1-94528847-G-A
NM_000350.2(
ABCA4
):c.1581C>T;(p.S527=)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
A pan-cancer analysis of synonymous mutations.
Nature Communications
Sharma, Yogita Y; Miladi, Milad M; Dukare, Sandeep S; Boulay, Karine K; Caudron-Herger, Maiwen M; Groß, Matthias M; Backofen, Rolf R; Diederichs, Sven S
Publication Date: 2019-06-12
Variant appearance in text: ABCA4: 1581C>T
PubMed Link:
31189880
Variant Present in the following documents:
41467_2019_10489_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page
Identification of genetic variation and haplotype structure of the canine ABCA4 gene for retinal disease association studies.
Molecular Genetics And Genomics : Mgg
Zangerl, B B; Lindauer, S J SJ; Acland, G M GM; Aguirre, G D GD
Publication Date: 2010-10
Variant appearance in text: ABCA4: 1581C>T; Ser527Ser
PubMed Link:
20661590
Variant Present in the following documents:
Main text
View BVdb publication page