Bibliome.ai browser hg19
Search
About
Stats
FAQ
ABCA4 c.1556G>T ;(p.C519F)
Variant ID: 1-94528872-C-A
NM_000350.2(
ABCA4
):c.1556G>T;(p.C519F)
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: STGD1: C519F
PubMed Link:
31934596
Variant Present in the following documents:
Main text
40662_2019_Article_168.pdf
View BVdb publication page