KMT2D c.1896C>G ;(p.D632E)

Variant ID: 12-49445570-G-C

NM_003482.3(KMT2D):c.1896C>G;(p.D632E)

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: 1896C>G; Asp632Glu
PubMed Link: 37086329
Variant Present in the following documents:
  • 439_2023_2559_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Detection of disease-causing mutations in prostate cancer by NGS sequencing.

Cell Biology International
Mangolini, Alessandra A; Rocca, Christian C; Bassi, Cristian C; Ippolito, Carmelo C; Negrini, Massimo M; Dell'Atti, Lucio L; Lanza, Giovanni G; GafĂ , Roberta R; Bianchi, Nicoletta N; Pinton, Paolo P; Aguiari, Gianluca G
Publication Date: 2022-07

Variant appearance in text: rs559716109
PubMed Link: 35347810
Variant Present in the following documents:
  • CBIN-46-1047-s001.xlsx, sheet 1
View BVdb publication page



Discrimination Between Primary Lung Cancer and Lung Metastases by Genomic Profiling.

Jto Clinical And Research Reports
Higuchi, Rumi R; Goto, Taichiro T; Nakagomi, Takahiro T; Hirotsu, Yosuke Y; Oyama, Toshio T; Amemiya, Kenji K; Mochizuki, Hitoshi H; Omata, Masao M
Publication Date: 2021-12

Variant appearance in text: KMT2D: Asp632Glu
PubMed Link: 34877557
Variant Present in the following documents:
  • mmc2.pdf
View BVdb publication page



Clinical Implications of Noncoding Indels in the Surfactant-Encoding Genes in Lung Cancer.

Cancers
Nakagomi, Takahiro T; Hirotsu, Yosuke Y; Goto, Taichiro T; Shikata, Daichi D; Yokoyama, Yujiro Y; Higuchi, Rumi R; Otake, Sotaro S; Amemiya, Kenji K; Oyama, Toshio T; Mochizuki, Hitoshi H; Omata, Masao M
Publication Date: 2019-04-17

Variant appearance in text: KMT2D: Asp632Glu
PubMed Link: 30999697
Variant Present in the following documents:
  • cancers-11-00552.pdf
View BVdb publication page



Mutational analysis of multiple lung cancers: Discrimination between primary and metastatic lung cancers by genomic profile.

Oncotarget
Goto, Taichiro T; Hirotsu, Yosuke Y; Mochizuki, Hitoshi H; Nakagomi, Takahiro T; Shikata, Daichi D; Yokoyama, Yujiro Y; Oyama, Toshio T; Amemiya, Kenji K; Okimoto, Kenichiro K; Omata, Masao M
Publication Date: 2017-05-09

Variant appearance in text: KMT2D: Asp632Glu
PubMed Link: 28415711
Variant Present in the following documents:
  • Main text
  • oncotarget-08-31133.pdf
View BVdb publication page