KCNQ1 c.1514+42441C>A

Variant ID: 11-2725752-C-A

NM_000218.2(KCNQ1):c.1514+42441C>A

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:

Profound alterations of the chromatin architecture at chromosome 11p15.5 in cells from Beckwith-Wiedemann and Silver-Russell syndromes patients.

Scientific Reports
Rovina, Davide D; La Vecchia, Marta M; Cortesi, Alice A; Fontana, Laura L; Pesant, Matthieu M; Maitz, Silvia S; Tabano, Silvia S; Bodega, Beatrice B; Miozzo, Monica M; Sirchia, Silvia M SM
Publication Date: 2020-05-19

Variant appearance in text: rs2283196
PubMed Link: 32427849
Variant Present in the following documents:
  • Main text
  • 41598_2020_Article_65082.pdf
View BVdb publication page