ABCA4 c.1823T>A ;(p.F608Y)

Variant ID: 1-94528247-A-T

NM_000350.2(ABCA4):c.1823T>A;(p.F608Y)

This variant was identified in 2 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: F608Y
PubMed Link: 32884132
Variant Present in the following documents:
  • NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 6
View BVdb publication page



Optical Gap Biomarker in Cone-Dominant Retinal Dystrophy.

American Journal Of Ophthalmology
Oh, Jin Kyun JK; Ryu, Joseph J; Lima de Carvalho, Jose Ronaldo JR; Levi, Sarah R SR; Lee, Winston W; Tsamis, Emmanouil E; Greenstein, Vivienne C VC; Mahajan, Vinit B VB; Allikmets, Rando R; Tsang, Stephen H SH
Publication Date: 2020-10

Variant appearance in text: ABCA4: 1823T>A
PubMed Link: 32445700
Variant Present in the following documents:
  • Main text
View BVdb publication page