ABCA4 c.599T>A ;(p.L200Q)

Variant ID: 1-94564519-A-T

NM_000350.2(ABCA4):c.599T>A;(p.L200Q)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Genetic and Phenotypic Landscape of PRPH2-Associated Retinal Dystrophy in Japan.

Genes
Oishi, Akio A; Fujinami, Kaoru K; Mawatari, Go G; Naoi, Nobuhisa N; Ikeda, Yasuhiro Y; Ueno, Shinji S; Kuniyoshi, Kazuki K; Hayashi, Takaaki T; Kondo, Hiroyuki H; Mizota, Atsushi A; Shinoda, Kei K; Kusuhara, Sentaro S; Nakamura, Makoto M; Iwata, Takeshi T; Tsujikawa, Akitaka A; Tsunoda, Kazushige K
Publication Date: 2021-11-18

Variant appearance in text: STGD: 599T>A
PubMed Link: 34828423
Variant Present in the following documents:
  • Main text
  • genes-12-01817.pdf
View BVdb publication page