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TG c.1606del ;(p.E536Kfs*9)
Variant ID: 8-133899223-TG-T
NM_003235.4(
TG
):c.1606del;(p.E536Kfs*9)
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:
Population-scale analysis of common and rare genetic variation associated with hearing loss in adults.
Communications Biology
Praveen, Kavita K; Dobbyn, Lee L; Gurski, Lauren L; Ayer, Ariane H AH; Staples, Jeffrey J; Mishra, Shawn S; Bai, Yu Y; Kaufman, Alexandra A; Moscati, Arden A; Benner, Christian C; Chen, Esteban E; Chen, Siying S; Popov, Alexander A; Smith, Janell J; , ; , ; , ; Melander, Olle O; Jones, Marcus B MB; Marchini, Jonathan J; Balasubramanian, Suganthi S; Zambrowicz, Brian B; Drummond, Meghan C MC; Baras, Aris A; Abecasis, Goncalo R GR; Ferreira, Manuel A MA; Stahl, Eli A EA; Coppola, Giovanni G
Publication Date: 2022-06-03
Variant appearance in text: TG: 1606delG; Glu536fs
PubMed Link:
35661827
Variant Present in the following documents:
42003_2022_3408_MOESM4_ESM.xlsx, sheet 9
View BVdb publication page