SCN5A c.146A>G ;(p.E49G)

Variant ID: 3-38674653-T-C

NM_000335.4(SCN5A):c.146A>G;(p.E49G)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Whole-exome sequencing reveals a rare missense variant in DTNA in an Iranian pedigree with early-onset atrial fibrillation.

Bmc Cardiovascular Disorders
Malakootian, Mahshid M; Jalilian, Masoumeh M; Kalayinia, Samira S; Hosseini Moghadam, Maryam M; Heidarali, Mona M; Haghjoo, Majid M
Publication Date: 2022-02-11

Variant appearance in text: SCN5A: 146A>G
PubMed Link: 35148685
Variant Present in the following documents:
  • 12872_2022_Article_2485.pdf
View BVdb publication page


Whole-exome sequencing reveals a rare missense variant in DTNA in an Iranian pedigree with early-onset atrial fibrillation.

Bmc Cardiovascular Disorders
Malakootian, Mahshid M; Jalilian, Masoumeh M; Kalayinia, Samira S; Hosseini Moghadam, Maryam M; Heidarali, Mona M; Haghjoo, Majid M
Publication Date: 2022-02-11

Variant appearance in text: SCN5A: 146A>G
PubMed Link: 35148685
Variant Present in the following documents:
  • 12872_2022_Article_2485.pdf
View BVdb publication page