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ABCA4 c.4710del ;(p.I1571Sfs*10)
Variant ID: 1-94487464-TG-T
NM_000350.2(
ABCA4
):c.4710del;(p.I1571Sfs*10)
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:
Genetic characteristics of 234 Italian patients with macular and cone/cone-rod dystrophy.
Scientific Reports
Falsini, Benedetto B; Placidi, Giorgio G; De Siena, Elisa E; Chiurazzi, Pietro P; Minnella, Angelo Maria AM; Savastano, Maria Cristina MC; Ziccardi, Lucia L; Parisi, Vincenzo V; Iarossi, Giancarlo G; Percio, Marcella M; Piteková, Barbora B; Marceddu, Giuseppe G; Maltese, Paolo Enrico PE; Bertelli, Matteo M
Publication Date: 2022-03-08
Variant appearance in text: ABCA4: 4710del; Ile1571Serfs*10
PubMed Link:
35260635
Variant Present in the following documents:
41598_2022_7618_MOESM1_ESM.pdf
View BVdb publication page
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: 4710delC
PubMed Link:
32884132
Variant Present in the following documents:
NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 6
View BVdb publication page