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ABCA4 c.2385_2400del ;(p.S795Rfs*43)
Variant ID: 1-94520853-CCACCGGAGACAGTAAG-C
NM_000350.2(
ABCA4
):c.2385_2400del;(p.S795Rfs*43)
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:
A novel statistical method for interpreting the pathogenicity of rare variants.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Wang, Jun J; Liu, Hehe H; Bertrand, Renae Elaine RE; Sarrion-Perdigones, Alejandro A; Gonzalez, Yezabel Y; Venken, Koen J T KJT; Chen, Rui R
Publication Date: 2021-01
Variant appearance in text: ABCA4: 2385_2400del; S795fs
PubMed Link:
32884132
Variant Present in the following documents:
NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 6
View BVdb publication page
Mutation Spectrum of the ABCA4 Gene in a Greek Cohort with Stargardt Disease: Identification of Novel Mutations and Evidence of Three Prevalent Mutated Alleles.
Journal Of Ophthalmology
Smaragda, Kamakari K; Vassiliki, Kokkinou K; George, Koutsodontis K; Polixeni, Stamatiou S; Christoforos, Giatzakis G; Anastasios, Anastasakis A; Minas, Aslanides Ioannis AI; Stavrenia, Koukoula K; Theoni, Panagiotoglou P; Ioannis, Datseris D; Miltiadis, Tsilimbaris K TK
Publication Date: 2018
Variant appearance in text: STGD1: 2385_2400delCTTACTGTCTCCGGTG
PubMed Link:
29854428
Variant Present in the following documents:
Main text
JOPH2018-5706142.pdf
View BVdb publication page