KCNQ1 c.153C>A ;(p.Y51*)

Variant ID: 11-2466481-C-A

NM_000218.2(KCNQ1):c.153C>A;(p.Y51*)

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:

A novel KCNQ1 nonsense variant in the isoform-specific first exon causes both jervell and Lange-Nielsen syndrome 1 and long QT syndrome 1: a case report.

Bmc Medical Genetics
Nishimura, Motoi M; Ueda, Marehiko M; Ebata, Ryota R; Utsuno, Emi E; Ishii, Takuma T; Matsushita, Kazuyuki K; Ohara, Osamu O; Shimojo, Naoki N; Kobayashi, Yoshio Y; Nomura, Fumio F
Publication Date: 2017-06-08

Variant appearance in text: KCNQ1: Tyr51X
PubMed Link: 28595573
Variant Present in the following documents:
  • Main text
  • 12881_2017_Article_430.pdf
View BVdb publication page