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USH2A c.9770dup ;(p.N3257Kfs*9)
Variant ID: 1-215972436-A-AT
NM_206933.2(
USH2A
):c.9770dup;(p.N3257Kfs*9)
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: USH2A: 9770dupA; N3257fs
PubMed Link:
32884132
Variant Present in the following documents:
NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 8
View BVdb publication page
Usher syndrome in Denmark: mutation spectrum and some clinical observations.
Molecular Genetics & Genomic Medicine
Dad, Shzeena S; Rendtorff, Nanna Dahl ND; Tranebjærg, Lisbeth L; Grønskov, Karen K; Karstensen, Helena Gásdal HG; Brox, Vigdis V; Nilssen, Øivind Ø; Roux, Anne-Françoise AF; Rosenberg, Thomas T; Jensen, Hanne H; Møller, Lisbeth Birk LB
Publication Date: 2016-09
Variant appearance in text: USH2: 9770dup
PubMed Link:
27957503
Variant Present in the following documents:
Main text
MGG3-4-527.pdf
View BVdb publication page