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KCNQ1 c.478-11559T>C
Variant ID: 11-2580299-T-C
NM_000218.2(
KCNQ1
):c.478-11559T>C
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:
Transcription alterations of KCNQ1 associated with imprinted methylation defects in the Beckwith-Wiedemann locus.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Valente, Federica Maria FM; Sparago, Angela A; Freschi, Andrea A; Hill-Harfe, Katherine K; Maas, Saskia M SM; Frints, Suzanna Gerarda Maria SGM; Alders, Marielle M; Pignata, Laura L; Franzese, Monica M; Angelini, Claudia C; Carli, Diana D; Mussa, Alessandro A; Gazzin, Andrea A; Gabbarini, Fulvio F; Acurzio, Basilia B; Ferrero, Giovanni Battista GB; Bliek, Jet J; Williams, Charles A CA; Riccio, Andrea A; Cerrato, Flavia F
Publication Date: 2019-08
Variant appearance in text: rs2283169
PubMed Link:
30635621
Variant Present in the following documents:
Main text
41436_2018_Article_416.pdf
View BVdb publication page