SLC24A3 c.612+5393G>C

Variant ID: 20-19571581-G-C

NM_020689.3(SLC24A3):c.612+5393G>C

This variant was identified in 2 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: rs3790268
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Genome-wide association scan identifies variants near Matrix Metalloproteinase (MMP) genes on chromosome 11q21-22 strongly associated with serum MMP-1 levels.

Circulation. Cardiovascular Genetics
Cheng, Yu-Ching YC; Kao, Wen-Hong L WH; Mitchell, Braxton D BD; O'Connell, Jeffrey R JR; Shen, Haiqing H; McArdle, Patrick F PF; Gibson, Quince Q; Ryan, Kathleen A KA; Shuldiner, Alan R AR; Pollin, Toni I TI
Publication Date: 2009-08

Variant appearance in text: rs3790268
PubMed Link: 20031604
Variant Present in the following documents:
  • Main text
View BVdb publication page