ABCA4 c.6658C>A ;(p.Q2220K)

Variant ID: 1-94463488-G-T

NM_000350.2(ABCA4):c.6658C>A;(p.Q2220K)

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 characterization of Stargardt clinical phenotype in South Indian patients using sanger and targeted sequencing.

Eye And Vision (London, England)
Raj, Rajendran Kadarkarai RK; Dhoble, Pankaja P; Anjanamurthy, Rupa R; Chermakani, Prakash P; Kumaran, Manojkumar M; Devarajan, Bharanidharan B; Sundaresan, Periasamy P
Publication Date: 2020

Variant appearance in text: rs61753046
PubMed Link: 31934596
Variant Present in the following documents:
  • Main text
  • 40662_2019_Article_168.pdf
View BVdb publication page