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SCN5A c.4874G>C ;(p.R1625P)
Variant ID: 3-38592986-C-G
NM_000335.4(
SCN5A
):c.4874G>C;(p.R1625P)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Identification of Misclassified ClinVar Variants via Disease Population Prevalence.
American Journal Of Human Genetics
Shah, Naisha N; Hou, Ying-Chen Claire YC; Yu, Hung-Chun HC; Sainger, Rachana R; Caskey, C Thomas CT; Venter, J Craig JC; Telenti, Amalio A
Publication Date: 2018-04-05
Variant appearance in text: rs199473283
PubMed Link:
29625023
Variant Present in the following documents:
Main text
View BVdb publication page
Genetic variation in human drug-related genes.
Genome Medicine
Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS
Publication Date: 2017-12-22
Variant appearance in text: rs199473283
PubMed Link:
29273096
Variant Present in the following documents:
13073_2017_502_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page
Incidentalome from Genomic Sequencing: A Barrier to Personalized Medicine?
Ebiomedicine
Jamuar, Saumya Shekhar SS; Kuan, Jyn Ling JL; Brett, Maggie M; Tiang, Zenia Z; Tan, Wilson Lek Wen WL; Lim, Jiin Ying JY; Liew, Wendy Kein Meng WK; Javed, Asif A; Liew, Woei Kang WK; Law, Hai Yang HY; Tan, Ee Shien ES; Lai, Angeline A; Ng, Ivy I; Teo, Yik Ying YY; Venkatesh, Byrappa B; Reversade, Bruno B; Tan, Ene Choo EC; Foo, Roger R
Publication Date: 2016-03
Variant appearance in text: SCN5A: Arg1625Pro; rs199473283
PubMed Link:
27077130
Variant Present in the following documents:
Main text
main.pdf
View BVdb publication page