Variant ID: 3-38592986-C-A

NM_198056.2(SCN5A):c.4877G>T;(p.Arg1626Leu)

This variant was identified in 2 publications



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
N Shah, YC Hou, HC Yu, R Sainger, CT Caskey, JC Venter, A Telenti
Publication Date: 2018-04-05

Variant appearance in text: rs199473283
PubMed Link: 29625023
Variant Present in the following documents:
  • Main text
  • mmc3.pdf
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: rs199473283
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.4877G>T p.Arg1626Leu missense_variant 28/28 -
ENST00000413689.1 c.4877G>T p.Arg1626Leu missense_variant 28/28 -
ENST00000414099.2 c.4823G>T p.Arg1608Leu missense_variant 26/26 -
ENST00000423572.2 c.4874G>T p.Arg1625Leu missense_variant 27/27 -
ENST00000425664.1 c.4823G>T p.Arg1608Leu missense_variant 27/27 -
ENST00000443581.1 c.4874G>T p.Arg1625Leu missense_variant 28/28 -
ENST00000449557.2 c.4715G>T p.Arg1572Leu missense_variant 26/26 -
ENST00000450102.2 c.4715G>T p.Arg1572Leu missense_variant 26/26 -
ENST00000451551.2 c.4715G>T p.Arg1572Leu missense_variant 27/27 -
ENST00000455624.2 c.4778G>T p.Arg1593Leu missense_variant 27/27 -
NM_000335.4 c.4874G>T p.Arg1625Leu missense_variant 28/28 -
NM_001099404.1 c.4877G>T p.Arg1626Leu missense_variant 28/28 -
NM_001099405.1 c.4823G>T p.Arg1608Leu missense_variant 27/27 -
NM_001160160.2 c.4778G>T p.Arg1593Leu missense_variant 28/28 -
NM_001160161.1 c.4715G>T p.Arg1572Leu missense_variant 27/27 -
NM_001354701.2 c.4820G>T p.Arg1607Leu missense_variant 27/27 -
NM_198056.2 c.4877G>T p.Arg1626Leu missense_variant 28/28 -