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ABCA4 c.6411T>A ;(p.C2137*)
Variant ID: 1-94466460-A-T
NM_000350.2(
ABCA4
):c.6411T>A;(p.C2137*)
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 novel statistical method for interpreting the pathogenicity of rare variants.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Wang, Jun J; Liu, Hehe H; Bertrand, Renae Elaine RE; Sarrion-Perdigones, Alejandro A; Gonzalez, Yezabel Y; Venken, Koen J T KJT; Chen, Rui R
Publication Date: 2021-01
Variant appearance in text: ABCA4: C2137X
PubMed Link:
32884132
Variant Present in the following documents:
NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 6
View BVdb publication page
Outcome of ABCA4 microarray screening in routine clinical practice.
Molecular Vision
Ernest, Paul J G PJ; Boon, Camiel J F CJ; Klevering, B Jeroen BJ; Hoefsloot, Lies H LH; Hoyng, Carel B CB
Publication Date: 2009-12-20
Variant appearance in text: ABCA4: 6411T>A
PubMed Link:
20029649
Variant Present in the following documents:
Main text
mv-v15-2841.pdf
View BVdb publication page