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SETD9 c.812+130G>A
Variant ID: 5-56210923-G-A
NM_153706.3(
SETD9
):c.812+130G>A
This variant was identified in 5 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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: rs331499
PubMed Link:
36467812
Variant Present in the following documents:
JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page
Germline Variants Impact Somatic Events during Tumorigenesis.
Trends In Genetics : Tig
Ramroop, Johnny R JR; Gerber, Madelyn M MM; Toland, Amanda Ewart AE
Publication Date: 2019-07
Variant appearance in text: rs331499
PubMed Link:
31128889
Variant Present in the following documents:
Main text
View BVdb publication page
Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.
Human Genome Variation
Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H
Publication Date: 2017
Variant appearance in text: rs331499
PubMed Link:
28690861
Variant Present in the following documents:
hgv201727-s1.xls, sheet 1
View BVdb publication page
SNP variants at the MAP3K1/SETD9 locus 5q11.2 associate with somatic PIK3CA variants in breast cancers.
European Journal Of Human Genetics : Ejhg
Puzone, Roberto R; Pfeffer, Ulrich U
Publication Date: 2017-02
Variant appearance in text: rs331499
PubMed Link:
28029147
Variant Present in the following documents:
Main text
View BVdb publication page
Comprehensive functional annotation of seventy-one breast cancer risk Loci.
Plos One
Rhie, Suhn Kyong SK; Coetzee, Simon G SG; Noushmehr, Houtan H; Yan, Chunli C; Kim, Jae Mun JM; Haiman, Christopher A CA; Coetzee, Gerhard A GA
Publication Date: 2013
Variant appearance in text: rs331499
PubMed Link:
23717510
Variant Present in the following documents:
Main text
pone.0063925.pdf
View BVdb publication page