KMT2D c.15673C>T ;(p.R5225C)

Variant ID: 12-49420076-G-A

NM_003482.3(KMT2D):c.15673C>T;(p.R5225C)

This variant was identified in 7 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: 15673C>T; Arg5225Cys
PubMed Link: 37086329
Variant Present in the following documents:
  • 439_2023_2559_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Analysis of exome data in a UK cohort of 603 patients with syndromic orofacial clefting identifies causal molecular pathways.

Human Molecular Genetics
Wilson, Kate K; Newbury, Dianne F DF; Kini, Usha U
Publication Date: 2023-04-03

Variant appearance in text: KMT2D: 15673C>T; Arg5225Cys
PubMed Link: 37010288
Variant Present in the following documents:
  • supptables_hmg-2022-ce-00520-r1_wilson_without_id_ddad023.xlsx, sheet 5
View BVdb publication page



Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay.

Molecular Medicine (Cambridge, Mass.)
Seo, Go Hun GH; Lee, Hane H; Lee, Jungsul J; Han, Heonjong H; Cho, You Kyung YK; Kim, Minji M; Choi, Yunha Y; Choi, Jeongmin J; Choi, In Hee IH; Rhie, Seonkyeong S; Chae, Kyu Young KY; Kim, Yoo-Mi YM; Cheon, Chong Kun CK; Kim, Su Jin SJ; Lee, Jieun J; Kang, Eungu E; Byeon, Jung Hye JH; Yu, Hee Joon HJ; Shin, Young-Lim YL; Oh, Arum A; Kim, Woo Jin WJ; Yum, Mi-Sun MS; Lee, Beom Hee BH; Eun, Baik-Lin BL
Publication Date: 2022-03-26

Variant appearance in text: KMT2D: 15673C>T; Arg5225Cys
PubMed Link: 35346031
Variant Present in the following documents:
  • 10020_2022_464_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Somatic alterations and mutational burden are potential predictive factors for metachronous development of early gastric cancer.

Scientific Reports
Sakuta, Kazuhiro K; Sasaki, Yu Y; Abe, Yasuhiko Y; Sato, Hidenori H; Shoji, Masakuni M; Yaoita, Takao T; Yagi, Makoto M; Mizumoto, Naoko N; Onozato, Yusuke Y; Kon, Takashi T; Koseki, Ayumi A; Sato, Sonoko S; Murakami, Ryoko R; Miyano, Yuki Y; Ueno, Yoshiyuki Y
Publication Date: 2020-12-16

Variant appearance in text: KMT2D: R5225C
PubMed Link: 33328548
Variant Present in the following documents:
  • 41598_2020_79195_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Novel bioinformatic classification system for genetic signatures identification in diffuse large B-cell lymphoma.

Bmc Cancer
Zhang, Wei W; Yang, Li L; Guan, Yu' Qi YQ; Shen, Ke' Feng KF; Zhang, Mei' Lan ML; Cai, Hao' Dong HD; Wang, Jia' Chen JC; Wang, Ying Y; Huang, Liang L; Cao, Yang Y; Wang, Na N; Tan, Xiao' Hong XH; Young, Ken He KH; Xiao, Min M; Zhou, Jian' Feng JF
Publication Date: 2020-07-31

Variant appearance in text: KMT2D: 15673C>T; Arg5225Cys
PubMed Link: 32736575
Variant Present in the following documents:
  • 12885_2020_7198_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



The Cardiac Genome Clinic: implementing genome sequencing in pediatric heart disease.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Reuter, Miriam S MS; Chaturvedi, Rajiv R RR; Liston, Eriskay E; Manshaei, Roozbeh R; Aul, Ritu B RB; Bowdin, Sarah S; Cohn, Iris I; Curtis, Meredith M; Dhir, Priya P; Hayeems, Robin Z RZ; Hosseini, S Mohsen SM; Khan, Reem R; Ly, Linh G LG; Marshall, Christian R CR; Mertens, Luc L; Okello, John B A JBA; Pereira, Sergio L SL; Raajkumar, Akshaya A; Seed, Mike M; Thiruvahindrapuram, Bhooma B; Scherer, Stephen W SW; Kim, Raymond H RH; Jobling, Rebekah K RK
Publication Date: 2020-06

Variant appearance in text: KMT2D: 15673C>T; Arg5225Cys
PubMed Link: 32037394
Variant Present in the following documents:
  • Main text
  • 41436_2020_Article_757.pdf
View BVdb publication page



Distinct genetic changes reveal evolutionary history and heterogeneous molecular grade of DLBCL with MYC/BCL2 double-hit.

Leukemia
Cucco, Francesco F; Barrans, Sharon S; Sha, Chulin C; Clipson, Alexandra A; Crouch, Simon S; Dobson, Rachel R; Chen, Zi Z; Thompson, Joe Sneath JS; Care, Matthew A MA; Cummin, Thomas T; Caddy, Josh J; Liu, Hongxiang H; Robinson, Anne A; Schuh, Anna A; Fitzgibbon, Jude J; Painter, Daniel D; Smith, Alexandra A; Roman, Eve E; Tooze, Reuben R; Burton, Catherine C; Davies, Andrew J AJ; Westhead, David R DR; Johnson, Peter W M PWM; Du, Ming-Qing MQ
Publication Date: 2020-05

Variant appearance in text: KMT2D: R5225C
PubMed Link: 31844144
Variant Present in the following documents:
  • 41375_2019_691_MOESM7_ESM.xlsx, sheet 2
View BVdb publication page