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ABCA4 c.978C>A ;(p.Y326*)
Variant ID: 1-94546155-G-T
NM_000350.2(
ABCA4
):c.978C>A;(p.Y326*)
This variant was identified in 4 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: Y326X
PubMed Link:
32884132
Variant Present in the following documents:
NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 6
View BVdb publication page
Expanding the Mutation Spectrum in ABCA4: Sixty Novel Disease Causing Variants and Their Associated Phenotype in a Large French Stargardt Cohort.
International Journal Of Molecular Sciences
Nassisi, Marco M; Mohand-Saïd, Saddek S; Dhaenens, Claire-Marie CM; Boyard, Fiona F; Démontant, Vanessa V; Andrieu, Camille C; Antonio, Aline A; Condroyer, Christel C; Foussard, Marine M; Méjécase, Cécile C; Eandi, Chiara Maria CM; Sahel, José-Alain JA; Zeitz, Christina C; Audo, Isabelle I
Publication Date: 2018-07-27
Variant appearance in text: ABCA4: 978C>A
PubMed Link:
30060493
Variant Present in the following documents:
Main text
ijms-19-02196.pdf
View BVdb publication page
XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.
Plos One
Talukder, Asoke K AK; Ravishankar, Shashidhar S; Sasmal, Krittika K; Gandham, Santhosh S; Prabhukumar, Jyothsna J; Achutharao, Prahalad H PH; Barh, Debmalya D; Blasi, Francesco F
Publication Date: 2015
Variant appearance in text: ABCA4: Y326*
PubMed Link:
25905921
Variant Present in the following documents:
pone.0123569.s008.xls, sheet 6
pone.0123569.s008.xls, sheet 11
pone.0123569.s008.xls, sheet 2
View BVdb publication page
Splicing mutation analysis reveals previously unrecognized pathways in lymph node-invasive breast cancer.
Scientific Reports
Dorman, Stephanie N SN; Viner, Coby C; Rogan, Peter K PK
Publication Date: 2014-11-14
Variant appearance in text: ABCA4: Y326X
PubMed Link:
25394353
Variant Present in the following documents:
srep07063-s2.xls, sheet 2
View BVdb publication page