MUSK c.1586+180G>A

Variant ID: 9-113547476-G-A

NM_005592.3(MUSK):c.1586+180G>A

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Whole‑exome sequencing identifies a novel mutation of SLC20A2 (c.C1849T) as a possible cause of hereditary multiple exostoses in a Chinese family.

Molecular Medicine Reports
Li, Yiqiang Y; Lin, Xuemei X; Zhu, Mingwei M; Li, Jingchun J; Yuan, Zhe Z; Xu, Hongwen H
Publication Date: 2020-09

Variant appearance in text: rs1170327
PubMed Link: 32705272
Variant Present in the following documents:
  • Supplementary_Data1.xlsx, sheet 1
View BVdb publication page



Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study.

Nature Genetics
Silverberg, Mark S MS; Cho, Judy H JH; Rioux, John D JD; McGovern, Dermot P B DP; Wu, Jing J; Annese, Vito V; Achkar, Jean-Paul JP; Goyette, Philippe P; Scott, Regan R; Xu, Wei W; Barmada, M Michael MM; Klei, Lambertus L; Daly, Mark J MJ; Abraham, Clara C; Bayless, Theodore M TM; Bossa, Fabrizio F; Griffiths, Anne M AM; Ippoliti, Andrew F AF; Lahaie, Raymond G RG; Latiano, Anna A; Paré, Pierre P; Proctor, Deborah D DD; Regueiro, Miguel D MD; Steinhart, A Hillary AH; Targan, Stephan R SR; Schumm, L Philip LP; Kistner, Emily O EO; Lee, Annette T AT; Gregersen, Peter K PK; Rotter, Jerome I JI; Brant, Steven R SR; Taylor, Kent D KD; Roeder, Kathryn K; Duerr, Richard H RH
Publication Date: 2009-02

Variant appearance in text: rs1170327
PubMed Link: 19122664
Variant Present in the following documents:
  • NIHMS74184-supplement-1.pdf
View BVdb publication page