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TG c.355del ;(p.Q119Sfs*48)
Variant ID: 8-133883673-TC-T
NM_003235.4(
TG
):c.355del;(p.Q119Sfs*48)
This variant was identified in 4 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
The genetic landscape of major drug metabolizing cytochrome P450 genes-an updated analysis of population-scale sequencing data.
The Pharmacogenomics Journal
Zhou, Yitian Y; Lauschke, Volker M VM
Publication Date: 2022-12
Variant appearance in text: TG: 355delC
PubMed Link:
36068297
Variant Present in the following documents:
41397_2022_288_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page
The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.
Npj Genomic Medicine
Xiao, Qingyang Q; Lauschke, Volker M VM
Publication Date: 2021-06-02
Variant appearance in text: TG: 355delC
PubMed Link:
34078906
Variant Present in the following documents:
41525_2021_203_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Plos Genetics
Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM
Publication Date: 2019-10
Variant appearance in text: TG: 355delC
PubMed Link:
31589614
Variant Present in the following documents:
pgen.1008409.s001.xlsx, sheet 1
View BVdb publication page
Smith-Lemli-Opitz syndrome carrier frequency and estimates of in utero mortality rates.
Prenatal Diagnosis
Lazarin, Gabriel A GA; Haque, Imran S IS; Evans, Eric A EA; Goldberg, James D JD
Publication Date: 2017-04
Variant appearance in text: TG: 355delC
PubMed Link:
28166604
Variant Present in the following documents:
Main text
PD-37-350.pdf
View BVdb publication page