KMT2D c.12143C>T ;(p.P4048L)

Variant ID: 12-49426345-G-A

NM_003482.3(KMT2D):c.12143C>T;(p.P4048L)

This variant was identified in 6 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: 12143C>T; Pro4048Leu
PubMed Link: 37086329
Variant Present in the following documents:
  • 439_2023_2559_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics
Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,
Publication Date: 2022-12-01

Variant appearance in text: KMT2D: P4048L; rs527255553
PubMed Link: 36413997
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Investigation of PALB2 Mutation and Correlation With Immunotherapy Biomarker in Chinese Non-Small Cell Lung Cancer Patients.

Frontiers In Oncology
Zhang, Jiexia J; Tang, Shuangfeng S; Zhang, Chunning C; Li, Mingyao M; Zheng, Yating Y; Hu, Xue X; Huang, Mengli M; Cheng, Xiangyang X
Publication Date: 2021

Variant appearance in text: KMT2D: 12143C>T; P4048L
PubMed Link: 35087742
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
  • Table_1.xlsx, sheet 1
View BVdb publication page



Genomic Comparison of Endometrioid Endometrial Carcinoma and Its Precancerous Lesions in Chinese Patients by High-Depth Next Generation Sequencing.

Frontiers In Oncology
Wang, Yao Y; Yu, Mei M; Yang, Jia-Xin JX; Cao, Dong-Yan DY; Zhang, Ying Y; Zhou, Hui-Mei HM; Yuan, Zhen Z; Shen, Keng K
Publication Date: 2019

Variant appearance in text: KMT2D: 12143C>T; P4048L
PubMed Link: 30886832
Variant Present in the following documents:
  • Table_2.xls, sheet 1
  • Table_2.xls, sheet 2
View BVdb publication page



Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.

Plos One
Pritchard, Antonia L AL; Johansson, Peter A PA; Nathan, Vaishnavi V; Howlie, Madeleine M; Symmons, Judith J; Palmer, Jane M JM; Hayward, Nicholas K NK
Publication Date: 2018

Variant appearance in text: KMT2D: 12143C>T; Pro4048Leu; rs527255553
PubMed Link: 29641532
Variant Present in the following documents:
  • pone.0194098.s003.xlsx, sheet 10
View BVdb publication page



Whole-exome sequencing defines the mutational landscape of pheochromocytoma and identifies KMT2D as a recurrently mutated gene.

Genes, Chromosomes & Cancer
Juhlin, C Christofer CC; Stenman, Adam A; Haglund, Felix F; Clark, Victoria E VE; Brown, Taylor C TC; Baranoski, Jacob J; Bilguvar, Kaya K; Goh, Gerald G; Welander, Jenny J; Svahn, Fredrika F; Rubinstein, Jill C JC; Caramuta, Stefano S; Yasuno, Katsuhito K; Günel, Murat M; Bäckdahl, Martin M; Gimm, Oliver O; Söderkvist, Peter P; Prasad, Manju L ML; Korah, Reju R; Lifton, Richard P RP; Carling, Tobias T
Publication Date: 2015-09

Variant appearance in text: KMT2D: P4048L
PubMed Link: 26032282
Variant Present in the following documents:
  • Main text
View BVdb publication page