KMT2D c.12199C>T ;(p.P4067S)

Variant ID: 12-49426289-G-A

NM_003482.3(KMT2D):c.12199C>T;(p.P4067S)

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: 12199C>T; Pro4067Ser
PubMed Link: 37086329
Variant Present in the following documents:
  • 439_2023_2559_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Kabuki syndrome: novel pathogenic variants, new phenotypes and review of literature.

Orphanet Journal Of Rare Diseases
Shangguan, Huakun H; Su, Chang C; Ouyang, Qian Q; Cao, Bingyan B; Wang, Jian J; Gong, Chunxiu C; Chen, Ruimin R
Publication Date: 2019-11-14

Variant appearance in text: KMT2D: 12199C>T; P4067S
PubMed Link: 31727177
Variant Present in the following documents:
  • Main text
  • 13023_2019_Article_1219.pdf
View BVdb publication page



Kabuki syndrome: a Chinese case series and systematic review of the spectrum of mutations.

Bmc Medical Genetics
Liu, Shuang S; Hong, Xiafei X; Shen, Cheng C; Shi, Quan Q; Wang, Jian J; Xiong, Feng F; Qiu, Zhengqing Z
Publication Date: 2015-04-21

Variant appearance in text: KMT2D: 12199C>T; Pro4067Ser
PubMed Link: 25896430
Variant Present in the following documents:
  • Main text
  • 12881_2015_Article_171.pdf
View BVdb publication page