KMT2D c.100C>G ;(p.P34A)

Variant ID: 12-49448759-G-C

NM_003482.3(KMT2D):c.100C>G;(p.P34A)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for KMT2A-Related Syndrome.

International Journal Of Molecular Sciences
Foroutan, Aidin A; Haghshenas, Sadegheh S; Bhai, Pratibha P; Levy, Michael A MA; Kerkhof, Jennifer J; McConkey, Haley H; Niceta, Marcello M; Ciolfi, Andrea A; Pedace, Lucia L; Miele, Evelina E; Genevieve, David D; Heide, Solveig S; Alders, Mariëlle M; Zampino, Giuseppe G; Merla, Giuseppe G; Fradin, Mélanie M; Bieth, Eric E; Bonneau, Dominique D; Dieterich, Klaus K; Fergelot, Patricia P; Schaefer, Elise E; Faivre, Laurence L; Vitobello, Antonio A; Maitz, Silvia S; Fischetto, Rita R; Gervasini, Cristina C; Piccione, Maria M; van de Laar, Ingrid I; Tartaglia, Marco M; Sadikovic, Bekim B; Lebre, Anne-Sophie AS
Publication Date: 2022-02-05

Variant appearance in text: KMT2D: 100C>G
PubMed Link: 35163737
Variant Present in the following documents:
  • ijms-23-01815.pdf
View BVdb publication page



Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for KMT2A-Related Syndrome.

International Journal Of Molecular Sciences
Foroutan, Aidin A; Haghshenas, Sadegheh S; Bhai, Pratibha P; Levy, Michael A MA; Kerkhof, Jennifer J; McConkey, Haley H; Niceta, Marcello M; Ciolfi, Andrea A; Pedace, Lucia L; Miele, Evelina E; Genevieve, David D; Heide, Solveig S; Alders, Mariëlle M; Zampino, Giuseppe G; Merla, Giuseppe G; Fradin, Mélanie M; Bieth, Eric E; Bonneau, Dominique D; Dieterich, Klaus K; Fergelot, Patricia P; Schaefer, Elise E; Faivre, Laurence L; Vitobello, Antonio A; Maitz, Silvia S; Fischetto, Rita R; Gervasini, Cristina C; Piccione, Maria M; van de Laar, Ingrid I; Tartaglia, Marco M; Sadikovic, Bekim B; Lebre, Anne-Sophie AS
Publication Date: 2022-02-05

Variant appearance in text: KMT2D: 100C>G
PubMed Link: 35163737
Variant Present in the following documents:
  • ijms-23-01815.pdf
View BVdb publication page