KMT2D c.14581G>A ;(p.D4861N)

Variant ID: 12-49421648-C-T

NM_003482.3(KMT2D):c.14581G>A;(p.D4861N)

This variant was identified in 3 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: 14581G>A; Asp4861Asn
PubMed Link: 37086329
Variant Present in the following documents:
  • 439_2023_2559_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Comprehensive germline and somatic genomic profiles of Chinese patients with biliary tract cancer.

Frontiers In Oncology
Yu, Haipeng H; Xu, Yan Y; Gao, Wei W; Li, Mei M; He, Ji'an J; Deng, Xiaoqian X; Xing, Wenge W
Publication Date: 2022

Variant appearance in text: KMT2D: D4861N
PubMed Link: 36072793
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Genetic profile of adult T-cell leukemia/lymphoma in Okinawa: Association with prognosis, ethnicity, and HTLV-1 strains.

Cancer Science
Sakihama, Shugo S; Morichika, Kazuho K; Saito, Rumiko R; Miyara, Megumi M; Miyagi, Takashi T; Hayashi, Masaki M; Uchihara, Junnosuke J; Tomoyose, Takeaki T; Ohshiro, Kazuiku K; Nakayama, Shingo S; Nakachi, Sawako S; Morishima, Satoko S; Sakai, Kazuko K; Nishio, Kazuto K; Masuzaki, Hiroaki H; Fukushima, Takuya T; Karube, Kennosuke K
Publication Date: 2021-03

Variant appearance in text: KMT2D: D4861N
PubMed Link: 33426772
Variant Present in the following documents:
  • CAS-112-1300-s002.xlsx, sheet 4
View BVdb publication page