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.




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