SCN5A c.2999A>T ;(p.Q1000L)

Variant ID: 3-38622651-T-A

NM_000335.4(SCN5A):c.2999A>T;(p.Q1000L)

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:

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: Q1000L
PubMed Link: 30079003
Variant Present in the following documents:
  • Main text
  • jkms-33-e200.pdf
View BVdb publication page