CSMD1 c.303-7105C>A

Variant ID: 8-4284692-G-T

NM_033225.5(CSMD1):c.303-7105C>A

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: rs4875102
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Sequence variant at 8q24.21 associates with sciatica caused by lumbar disc herniation.

Nature Communications
Bjornsdottir, Gyda G; Benonisdottir, Stefania S; Sveinbjornsson, Gardar G; Styrkarsdottir, Unnur U; Thorleifsson, Gudmar G; Walters, G Bragi GB; Bjornsson, Aron A; Olafsson, Ingvar H IH; Ulfarsson, Elfar E; Vikingsson, Arnor A; Hansdottir, Ragnheidur R; Karlsson, Karl O KO; Rafnar, Thorunn T; Jonsdottir, Ingileif I; Frigge, Michael L ML; Kong, Augustine A; Oddsson, Asmundur A; Masson, Gisli G; Magnusson, Olafur T OT; Gudbjartsson, Tomas T; Stefansson, Hreinn H; Sulem, Patrick P; Gudbjartsson, Daniel D; Thorsteinsdottir, Unnur U; Thorgeirsson, Thorgeir E TE; Stefansson, Kari K
Publication Date: 2017-02-22

Variant appearance in text: rs4875102
PubMed Link: 28223688
Variant Present in the following documents:
  • ncomms14265-s1.pdf
View BVdb publication page



Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects.

Annals Of The Rheumatic Diseases
Williams, Frances M K FM; Bansal, Aruna T AT; van Meurs, Joyce B JB; Bell, Jordana T JT; Meulenbelt, Ingrid I; Suri, Pradeep P; Rivadeneira, Fernando F; Sambrook, Philip N PN; Hofman, Albert A; Bierma-Zeinstra, Sita S; Menni, Cristina C; Kloppenburg, Margreet M; Slagboom, P Eline PE; Hunter, David J DJ; MacGregor, Alex J AJ; Uitterlinden, Andre G AG; Spector, Tim D TD
Publication Date: 2013-07

Variant appearance in text: rs4875102
PubMed Link: 22993228
Variant Present in the following documents:
  • Main text
  • annrheumdis-2012-201551.pdf
View BVdb publication page