ABCA4 c.1564C>T ;(p.L522=)

Variant ID: 1-94528864-G-A

NM_000350.2(ABCA4):c.1564C>T;(p.L522=)

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 characteristics and epidemiology of inherited retinal degeneration in Taiwan.

Npj Genomic Medicine
Chen, Ta-Ching TC; Huang, Ding-Siang DS; Lin, Chao-Wen CW; Yang, Chang-Hao CH; Yang, Chung-May CM; Wang, Victoria Y VY; Lin, Jou-Wei JW; Luo, Allen Chilun AC; Hu, Fung-Rong FR; Chen, Pei-Lung PL
Publication Date: 2021-02-19

Variant appearance in text: ABCA4: 1564C>T; Leu522Phe
PubMed Link: 33608557
Variant Present in the following documents:
  • 41525_2021_180_MOESM1_ESM.pdf
View BVdb publication page