ABCA4 c.2819C>G ;(p.P940R)

Variant ID: 1-94512574-G-C

NM_000350.2(ABCA4):c.2819C>G;(p.P940R)

This variant was identified in 6 publications

View GRCh38 version.




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: P940R
PubMed Link: 32884132
Variant Present in the following documents:
  • NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 7
  • NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 6
View BVdb publication page



Detailed genetic characteristics of an international large cohort of patients with Stargardt disease: ProgStar study report 8.

The British Journal Of Ophthalmology
Fujinami, Kaoru K; Strauss, Rupert W RW; Chiang, John Pei-Wen JP; Audo, Isabelle S IS; Bernstein, Paul S PS; Birch, David G DG; Bomotti, Samantha M SM; Cideciyan, Artur V AV; Ervin, Ann-Margret AM; Marino, Meghan J MJ; Sahel, José-Alain JA; Mohand-Said, Saddek S; Sunness, Janet S JS; Traboulsi, Elias I EI; West, Sheila S; Wojciechowski, Robert R; Zrenner, Eberhart E; Michaelides, Michel M; Scholl, Hendrik P N HPN; , ; ,
Publication Date: 2019-03

Variant appearance in text: ABCR: 2819C>G
PubMed Link: 29925512
Variant Present in the following documents:
  • bjophthalmol-2018-312064supp005.pdf
  • bjophthalmol-2018-312064supp004.pdf
View BVdb publication page



Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.

Plos One
Pritchard, Antonia L AL; Johansson, Peter A PA; Nathan, Vaishnavi V; Howlie, Madeleine M; Symmons, Judith J; Palmer, Jane M JM; Hayward, Nicholas K NK
Publication Date: 2018

Variant appearance in text: ABCA4: 2819C>G; Pro940Arg; rs144995371
PubMed Link: 29641532
Variant Present in the following documents:
  • pone.0194098.s003.xlsx, sheet 10
  • pone.0194098.s003.xlsx, sheet 9
View BVdb publication page



iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports
Wang, Meng M; Wei, Liping L
Publication Date: 2016-08-16

Variant appearance in text: ABCA4: P940R
PubMed Link: 27527004
Variant Present in the following documents:
  • srep31321-s5.xls, sheet 1
View BVdb publication page



Retinoid binding properties of nucleotide binding domain 1 of the Stargardt disease-associated ATP binding cassette (ABC) transporter, ABCA4.

The Journal Of Biological Chemistry
Biswas-Fiss, Esther E EE; Affet, Stephanie S; Ha, Malissa M; Biswas, Subhasis B SB
Publication Date: 2012-12-28

Variant appearance in text: ABCA4: P940R
PubMed Link: 23144455
Variant Present in the following documents:
  • Main text
View BVdb publication page



ABCA4 mutations and discordant ABCA4 alleles in patients and siblings with bull's-eye maculopathy.

The British Journal Of Ophthalmology
Michaelides, M M; Chen, L L LL; Brantley, M A MA; Andorf, J L JL; Isaak, E M EM; Jenkins, S A SA; Holder, G E GE; Bird, A C AC; Stone, E M EM; Webster, A R AR
Publication Date: 2007-12

Variant appearance in text: ABCA4: Pro940Arg
PubMed Link: 18024811
Variant Present in the following documents:
  • Main text
View BVdb publication page