THSD7A c.4945T>G ;(p.L1649V)

Variant ID: 7-11415450-A-C

NM_015204.2(THSD7A):c.4945T>G;(p.L1649V)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Integrative genomic and transcriptomic analysis in plasmablastic lymphoma identifies disruption of key regulatory pathways.

Blood Advances
Witte, Hanno M HM; Künstner, Axel A; Hertel, Nadine N; Bernd, Heinz-Wolfram HW; Bernard, Veronica V; Stölting, Stephanie S; Merz, Hartmut H; von Bubnoff, Nikolas N; Busch, Hauke H; Feller, Alfred C AC; Gebauer, Niklas N
Publication Date: 2022-01-25

Variant appearance in text: THSD7A: L1649V
PubMed Link: 34714908
Variant Present in the following documents:
  • advancesADV2021005486-suppl6.xlsx, sheet 1
View BVdb publication page



Enrichment of mutations in chromatin regulators in people with Rett syndrome lacking mutations in MECP2.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Sajan, Samin A SA; Jhangiani, Shalini N SN; Muzny, Donna M DM; Gibbs, Richard A RA; Lupski, James R JR; Glaze, Daniel G DG; Kaufmann, Walter E WE; Skinner, Steven A SA; Annese, Fran F; Friez, Michael J MJ; Lane, Jane J; Percy, Alan K AK; Neul, Jeffrey L JL
Publication Date: 2017-01

Variant appearance in text: THSD7A: L1649V
PubMed Link: 27171548
Variant Present in the following documents:
  • NIHMS769804-supplement-Supplementary___Appendix__online_only_material__etc___2.xls, sheet 2
View BVdb publication page