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SCN5A c.*123A>G
Variant ID: 3-38591689-T-C
NM_000335.4(
SCN5A
):c.*123A>G
This variant was identified in 7 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: rs7429945
PubMed Link:
36467812
Variant Present in the following documents:
JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page
Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.
Frontiers In Cellular And Infection Microbiology
Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA
Publication Date: 2021
Variant appearance in text: rs7429945
PubMed Link:
33791233
Variant Present in the following documents:
Table_2.xlsx, sheet 1
View BVdb publication page
PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.
Genome Biology
Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S
Publication Date: 2019-10-22
Variant appearance in text: rs7429945
PubMed Link:
31640808
Variant Present in the following documents:
13059_2019_1838_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page
Role of SCN5A coding and non-coding sequences in Brugada syndrome onset: What's behind the scenes?
Biomedical Journal
Daimi, Houria H; Khelil, Amel Haj AH; Neji, Ali A; Ben Hamda, Khaldoun K; Maaoui, Sabri S; Aranega, Amelia A; Be Chibani, Jemni J; Franco, Diego D
Publication Date: 2019-08
Variant appearance in text: rs7429945
PubMed Link:
31627867
Variant Present in the following documents:
Main text
main.pdf
View BVdb publication page
Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.
The Pharmacogenomics Journal
Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL
Publication Date: 2019-04
Variant appearance in text: rs7429945
PubMed Link:
30214008
Variant Present in the following documents:
NIHMS1503453-supplement-3.xlsx, sheet 1
View BVdb publication page
Proteogenomic analysis reveals exosomes are more oncogenic than ectosomes.
Oncotarget
Keerthikumar, Shivakumar S; Gangoda, Lahiru L; Liem, Michael M; Fonseka, Pamali P; Atukorala, Ishara I; Ozcitti, Cemil C; Mechler, Adam A; Adda, Christopher G CG; Ang, Ching-Seng CS; Mathivanan, Suresh S
Publication Date: 2015-06-20
Variant appearance in text: rs7429945
PubMed Link:
25944692
Variant Present in the following documents:
oncotarget-06-15375-s005.xlsx, sheet 2
View BVdb publication page
Genetic diversity of SCN5A gene and its possible association with the concealed form of Brugada syndrome development in Polish group of patients.
Biomed Research International
Uziębło-Życzkowska, Beata B; Gielerak, Grzegorz G; Siedlecki, Paweł P; Pająk, Beata B
Publication Date: 2014
Variant appearance in text: rs7429945
PubMed Link:
25401102
Variant Present in the following documents:
Main text
BMRI2014-462609.pdf
View BVdb publication page