ABCA4 c.4639A>T ;(p.K1547*)

Variant ID: 1-94488970-T-A

NM_000350.2(ABCA4):c.4639A>T;(p.K1547*)

This variant was identified in 4 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: K1547X
PubMed Link: 32884132
Variant Present in the following documents:
  • NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 6
View BVdb publication page



Quantitative fundus autofluorescence distinguishes ABCA4-associated and non-ABCA4-associated bull's-eye maculopathy.

Ophthalmology
Duncker, Tobias T; Tsang, Stephen H SH; Lee, Winston W; Zernant, Jana J; Allikmets, Rando R; Delori, François C FC; Sparrow, Janet R JR
Publication Date: 2015-02

Variant appearance in text: ABCA4: K1547*
PubMed Link: 25283059
Variant Present in the following documents:
  • Main text
View BVdb publication page



The external limiting membrane in early-onset Stargardt disease.

Investigative Ophthalmology & Visual Science
Lee, Winston W; Nõupuu, Kalev K; Oll, Maris M; Duncker, Tobias T; Burke, Tomas T; Zernant, Jana J; Bearelly, Srilaxmi S; Tsang, Stephen H SH; Sparrow, Janet R JR; Allikmets, Rando R
Publication Date: 2014-08-19

Variant appearance in text: ABCA4: K1547*
PubMed Link: 25139735
Variant Present in the following documents:
  • Main text
View BVdb publication page



Analysis of the ABCA4 gene by next-generation sequencing.

Investigative Ophthalmology & Visual Science
Zernant, Jana J; Schubert, Carl C; Im, Kate M KM; Burke, Tomas T; Brown, Carolyn M CM; Fishman, Gerald A GA; Tsang, Stephen H SH; Gouras, Peter P; Dean, Michael M; Allikmets, Rando R
Publication Date: 2011-10-31

Variant appearance in text: ABCA4: 4639A>T
PubMed Link: 21911583
Variant Present in the following documents:
  • Main text
View BVdb publication page