KMT2D c.5921C>T ;(p.T1974M)

Variant ID: 12-49436060-G-A

NM_003482.3(KMT2D):c.5921C>T;(p.T1974M)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome.

Human Genetics
Tollefson, Mallory R MR; Gogal, Rose A RA; Weaver, A Monique AM; Schaefer, Amanda M AM; Marini, Robert J RJ; Azaiez, Hela H; Kolbe, Diana L DL; Wang, Donghong D; Weaver, Amy E AE; Casavant, Thomas L TL; Braun, Terry A TA; Smith, Richard J H RJH; Schnieders, Michael J MJ
Publication Date: 2023-04-22

Variant appearance in text: KMT2D: 5921C>T; Thr1974Met
PubMed Link: 37086329
Variant Present in the following documents:
  • 439_2023_2559_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Genetic Diagnostic Yield and Novel Causal Genes of Congenital Heart Disease.

Frontiers In Genetics
Tan, Meihua M; Wang, Xinrui X; Liu, Hongjie H; Peng, Xiaoyan X; Yang, You Y; Yu, Haifei H; Xu, Liangpu L; Li, Jia J; Cao, Hua H
Publication Date: 2022

Variant appearance in text: KMT2D: 5921C>T; T1974M; rs777415982
PubMed Link: 35910219
Variant Present in the following documents:
  • DataSheet1.xlsx, sheet 7
View BVdb publication page



Multifocal Organoid Capturing of Colon Cancer Reveals Pervasive Intratumoral Heterogenous Drug Responses.

Advanced Science (Weinheim, Baden-Wurttemberg, Germany)
Kim, Soon-Chan SC; Park, Ji Won JW; Seo, Ha-Young HY; Kim, Minjung M; Park, Jae-Hyeon JH; Kim, Ga-Hye GH; Lee, Ja Oh JO; Shin, Young-Kyoung YK; Bae, Jeong Mo JM; Koo, Bon-Kyoung BK; Jeong, Seung-Yong SY; Ku, Ja-Lok JL
Publication Date: 2022-02

Variant appearance in text: KMT2D: 5921C>T; T1974M
PubMed Link: 34918496
Variant Present in the following documents:
  • ADVS-9-2103360-s007.xlsx, sheet 2
  • ADVS-9-2103360-s002.xlsx, sheet 2
View BVdb publication page



Mutations in Epigenetic Regulation Genes in Gastric Cancer.

Cancers
Nemtsova, Marina V MV; Kalinkin, Alexey I AI; Kuznetsova, Ekaterina B EB; Bure, Irina V IV; Alekseeva, Ekaterina A EA; Bykov, Igor I II; Khorobrykh, Tatiana V TV; Mikhaylenko, Dmitry S DS; Tanas, Alexander S AS; Strelnikov, Vladimir V VV
Publication Date: 2021-09-13

Variant appearance in text: KMT2D: T1974M; rs777415982
PubMed Link: 34572812
Variant Present in the following documents:
  • Main text
  • cancers-13-04586.pdf
View BVdb publication page



Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Sadikovic, Bekim B; Levy, Michael A MA; Kerkhof, Jennifer J; Aref-Eshghi, Erfan E; Schenkel, Laila L; Stuart, Alan A; McConkey, Haley H; Henneman, Peter P; Venema, Andrea A; Schwartz, Charles E CE; Stevenson, Roger E RE; Skinner, Steven A SA; DuPont, Barbara R BR; Fletcher, Robin S RS; Balci, Tugce B TB; Siu, Victoria Mok VM; Granadillo, Jorge L JL; Masters, Jennefer J; Kadour, Mike M; Friez, Michael J MJ; van Haelst, Mieke M MM; Mannens, Marcel M A M MMAM; Louie, Raymond J RJ; Lee, Jennifer A JA; Tedder, Matthew L ML; Alders, Marielle M
Publication Date: 2021-06

Variant appearance in text: KMT2D: 5921C>T; Thr1974Met
PubMed Link: 33547396
Variant Present in the following documents:
  • 41436_2020_1096_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page