KMT2D c.2797+1G>A

Variant ID: 12-49444668-C-T

NM_003482.3(KMT2D):c.2797+1G>A

This variant was identified in 3 publications

View GRCh38 version.




Publications:


A Novel Intronic KMT2D Variant as a Cause of Kabuki Syndrome: A Case Report.

The Application Of Clinical Genetics
Aristizábal, Erica E; Diaz-Ordóñez, Lorena L; Candelo, Estephania E; Pachajoa, Harry H
Publication Date: 2021

Variant appearance in text: KMT2D: 2797+1G>A
PubMed Link: 34675602
Variant Present in the following documents:
  • Main text
  • tacg-14-409.pdf
View BVdb publication page



Genetic markers and phosphoprotein forms of beta-catenin pβ-Cat552 and pβ-Cat675 are prognostic biomarkers of cervical cancer.

Ebiomedicine
Scholl, Suzy M SM; Beal, Jonas J; de Koning, Leanne L; Girard, Elodie E; Popovic, Marina M; de la Rochefordière, Anne A; Lecuru, Fabrice F; Fourchotte, Virginie V; Ngo, Charlotte C; Floquet, Anne A; Berns, Els Mjj EM; Kenter, Gemma G; Gestraud, Pierre P; von der Leyen, Heiko H; Lecerf, Charlotte C; Puard, Vincent V; Roman, Sergio Roman SR; Latouche, Aurelien A; Kereszt, Attila A; Balint, Balazs B; Rouzier, Roman R; Kamal, Maud M
Publication Date: 2020-11

Variant appearance in text: KMT2D: 2797+1G>A
PubMed Link: 33096476
Variant Present in the following documents:
  • mmc2.xlsx, sheet 1
View BVdb publication page



Pan-urologic cancer genomic subtypes that transcend tissue of origin.

Nature Communications
Chen, Fengju F; Zhang, Yiqun Y; Bossé, Dominick D; Lalani, Aly-Khan A AA; Hakimi, A Ari AA; Hsieh, James J JJ; Choueiri, Toni K TK; Gibbons, Don L DL; Ittmann, Michael M; Creighton, Chad J CJ
Publication Date: 2017-08-04

Variant appearance in text: rs727503988
PubMed Link: 28775315
Variant Present in the following documents:
  • 41467_2017_289_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page