Variant ID: 3-38622640-A-G

NM_198056.2(SCN5A):c.3010T>C;(p.Cys1004Arg)

This variant was identified in 4 publications




Publications:


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
MJ Son, MK Kim, KM Yang, BH Choi, BW Lee, SH Yoo
Publication Date: 2018-08-06

Variant appearance in text: SCN5A: C1004R
PubMed Link: 30079003
Variant Present in the following documents:
  • Main text
View BVdb publication page



Estimating the mutational load for cardiovascular diseases in Pakistani population.

Plos One
M Shakeel, M Irfan, IA Khan
Publication Date: 2018

Variant appearance in text: rs199473183
PubMed Link: 29420653
Variant Present in the following documents:
  • Main text
  • pone.0192446.s009.xlsx
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: LQT3: C1004R
PubMed Link: 28150151
Variant Present in the following documents:
  • Main text
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: SCN5A: Cys1004Arg; rs199473183
PubMed Link: 27077130
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000333535.4 c.3010T>C p.Cys1004Arg missense_variant 17/28 -
ENST00000413689.1 c.3010T>C p.Cys1004Arg missense_variant 17/28 -
ENST00000414099.2 c.3010T>C p.Cys1004Arg missense_variant 16/26 -
ENST00000423572.2 c.3010T>C p.Cys1004Arg missense_variant 16/27 -
ENST00000425664.1 c.3010T>C p.Cys1004Arg missense_variant 17/27 -
ENST00000443581.1 c.3010T>C p.Cys1004Arg missense_variant 17/28 -
ENST00000449557.2 c.3010T>C p.Cys1004Arg missense_variant 16/26 -
ENST00000450102.2 c.3010T>C p.Cys1004Arg missense_variant 16/26 -
ENST00000451551.2 c.3010T>C p.Cys1004Arg missense_variant 17/27 -
ENST00000455624.2 c.3010T>C p.Cys1004Arg missense_variant 16/27 -
NM_000335.4 c.3010T>C p.Cys1004Arg missense_variant 17/28 -
NM_001099404.1 c.3010T>C p.Cys1004Arg missense_variant 17/28 -
NM_001099405.1 c.3010T>C p.Cys1004Arg missense_variant 17/27 -
NM_001160160.2 c.3010T>C p.Cys1004Arg missense_variant 17/28 -
NM_001160161.1 c.3010T>C p.Cys1004Arg missense_variant 17/27 -
NM_001354701.2 c.3010T>C p.Cys1004Arg missense_variant 17/27 -
NM_198056.2 c.3010T>C p.Cys1004Arg missense_variant 17/28 -