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SCN5A c.2757C>G ;(p.F919L)
Variant ID: 3-38627212-G-C
NM_000335.4(
SCN5A
):c.2757C>G;(p.F919L)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Molecular characterization of lung squamous cell carcinoma tumors reveals therapeutically relevant alterations.
Oncotarget
Joshi, Asim A; Mishra, Rohit R; Desai, Sanket S; Chandrani, Pratik P; Kore, Hitesh H; Sunder, Roma R; Hait, Supriya S; Iyer, Prajish P; Trivedi, Vaishakhi V; Choughule, Anuradha A; Noronha, Vanita V; Joshi, Amit A; Patil, Vijay V; Menon, Nandini N; Kumar, Rajiv R; Prabhash, Kumar K; Dutt, Amit A
Publication Date: 2021-03-16
Variant appearance in text: SCN5A: F919L
PubMed Link:
33796225
Variant Present in the following documents:
oncotarget-12-578-s005.xlsx, sheet 1
View BVdb publication page
Retrospective Genetic Analysis of 200 Cases of Sudden Infant Death Syndrome and Its Relationship with Long QT Syndrome in Korea.
Journal Of Korean Medical Science
Son, Min-Jeong MJ; Kim, Min-Kyoung MK; Yang, Kyung-Moo KM; Choi, Byung-Ha BH; Lee, Bong Woo BW; Yoo, Seong Ho SH
Publication Date: 2018-08-06
Variant appearance in text: SCN5A: F919L
PubMed Link:
30079003
Variant Present in the following documents:
Main text
jkms-33-e200.pdf
View BVdb publication page