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ABCA4 c.1993_1994delinsAC ;(p.Y665T)
Variant ID: 1-94526259-TA-GT
NM_000350.2(
ABCA4
):c.1993_1994delinsAC;(p.Y665T)
This variant was identified in 2 publications
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: Y665T
PubMed Link:
31934596
Variant Present in the following documents:
Main text
40662_2019_Article_168.pdf
View BVdb publication page
Prevalence of mutations in inherited retinal diseases: A comparison between the United States and India.
Molecular Genetics & Genomic Medicine
Yohe, Sophia S; Sivasankar, Malaichamy M; Ghosh, Anuprita A; Ghosh, Arkasubhra A; Holle, Jennifer J; Murugan, Sakthivel S; Gupta, Ravi R; Schimmenti, Lisa A LA; Vedam, Ramprasad R; Thyagarajan, Bharat B
Publication Date: 2020-02
Variant appearance in text: ABCA4: Y665T
PubMed Link:
31816670
Variant Present in the following documents:
MGG3-8-e1081-s001.xlsx, sheet 1
View BVdb publication page