ABCA4 c.3407G>T ;(p.G1136V)

Variant ID: 1-94506880-C-A

NM_000350.2(ABCA4):c.3407G>T;(p.G1136V)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Retinal Pigment Epithelium Atrophy in Recessive Stargardt Disease as Measured by Short-Wavelength and Near-Infrared Autofluorescence.

Translational Vision Science & Technology
Jauregui, Ruben R; Nuzbrokh, Yan Y; Su, Pei-Yin PY; Zernant, Jana J; Allikmets, Rando R; Tsang, Stephen H SH; Sparrow, Janet R JR
Publication Date: 2021-01

Variant appearance in text: ABCA4: 3407G>T; G1136V
PubMed Link: 33505770
Variant Present in the following documents:
  • tvst-10-1-3_s002.pdf
View BVdb publication page



Genotypic spectrum and phenotype correlations of ABCA4-associated disease in patients of south Asian descent.

European Journal Of Human Genetics : Ejhg
Lee, Winston W; Schuerch, Kaspar K; Zernant, Jana J; Collison, Frederick T FT; Bearelly, Srilaxmi S; Fishman, Gerald A GA; Tsang, Stephen H SH; Sparrow, Janet R JR; Allikmets, Rando R
Publication Date: 2017-06

Variant appearance in text: ABCA4: 3407G>T; G1136V
PubMed Link: 28327576
Variant Present in the following documents:
  • Main text
View BVdb publication page