Variant ID: 3-38645439-C-G

NM_198056.2(SCN5A):c.1654G>C;(p.Gly552Arg)

This variant was identified in 4 publications




Publications:


Frequency and spectrum of actionable pathogenic secondary findings in Taiwanese exomes.

Molecular Genetics & Genomic Medicine
CW Kuo, WL Hwu, YH Chien, C Hsu, MZ Hung, IL Lin, F Lai, NC Lee
Publication Date: 2020-10

Variant appearance in text: SCN5A: 1654G>C; G552R; rs3918389
PubMed Link: 32794656
Variant Present in the following documents:
  • Main text
View BVdb publication page



Structure-based assessment of disease-related mutations in human voltage-gated sodium channels.

Protein & Cell
W Huang, M Liu, SF Yan, N Yan
Publication Date: 2017-06

Variant appearance in text: N/A
PubMed Link: 28150151
Variant Present in the following documents:
View BVdb publication page



Incidentalome from Genomic Sequencing: A Barrier to Personalized Medicine?

Ebiomedicine
SS Jamuar, JL Kuan, M Brett, Z Tiang, WL Tan, JY Lim, WK Liew, A Javed, WK Liew, HY Law, ES Tan, A Lai, I Ng, YY Teo, B Venkatesh, B Reversade, EC Tan, R Foo
Publication Date: 2016-03

Variant appearance in text: N/A
PubMed Link: 27077130
Variant Present in the following documents:
View BVdb publication page



Brugada syndrome disease phenotype explained in apparently benign sodium channel mutations.

Circulation. Cardiovascular Genetics
M Hoshi, XX Du, K Shinlapawittayatorn, H Liu, S Chai, X Wan, E Ficker, I DeschĂȘnes
Publication Date: 2014-04

Variant appearance in text: N/A
PubMed Link: 24573164
Variant Present in the following documents:
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000333535.4 c.1654G>C p.Gly552Arg missense_variant 12/28 -
ENST00000413689.1 c.1654G>C p.Gly552Arg missense_variant 12/28 -
ENST00000414099.2 c.1654G>C p.Gly552Arg missense_variant 11/26 -
ENST00000423572.2 c.1654G>C p.Gly552Arg missense_variant 11/27 -
ENST00000425664.1 c.1654G>C p.Gly552Arg missense_variant 12/27 -
ENST00000443581.1 c.1654G>C p.Gly552Arg missense_variant 12/28 -
ENST00000449557.2 c.1654G>C p.Gly552Arg missense_variant 11/26 -
ENST00000450102.2 c.1654G>C p.Gly552Arg missense_variant 11/26 -
ENST00000451551.2 c.1654G>C p.Gly552Arg missense_variant 12/27 -
ENST00000455624.2 c.1654G>C p.Gly552Arg missense_variant 11/27 -
NM_000335.4 c.1654G>C p.Gly552Arg missense_variant 12/28 -
NM_001099404.1 c.1654G>C p.Gly552Arg missense_variant 12/28 -
NM_001099405.1 c.1654G>C p.Gly552Arg missense_variant 12/27 -
NM_001160160.2 c.1654G>C p.Gly552Arg missense_variant 12/28 -
NM_001160161.1 c.1654G>C p.Gly552Arg missense_variant 12/27 -
NM_001354701.2 c.1654G>C p.Gly552Arg missense_variant 12/27 -
NM_198056.2 c.1654G>C p.Gly552Arg missense_variant 12/28 -