KMT2C c.10801A>T ;(p.K3601*)

Variant ID: 7-151859861-T-A

NM_170606.2(KMT2C):c.10801A>T;(p.K3601*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Systematic analysis of exonic germline and postzygotic de novo mutations in bipolar disorder.

Nature Communications
Nishioka, Masaki M; Kazuno, An-A AA; Nakamura, Takumi T; Sakai, Naomi N; Hayama, Takashi T; Fujii, Kumiko K; Matsuo, Koji K; Komori, Atsuko A; Ishiwata, Mizuho M; Watanabe, Yoshinori Y; Oka, Takashi T; Matoba, Nana N; Kataoka, Muneko M; Alkanaq, Ahmed N AN; Hamanaka, Kohei K; Tsuboi, Takashi T; Sengoku, Toru T; Ogata, Kazuhiro K; Iwata, Nakao N; Ikeda, Masashi M; Matsumoto, Naomichi N; Kato, Tadafumi T; Takata, Atsushi A
Publication Date: 2021-06-18

Variant appearance in text: KMT2C: Lys3601*
PubMed Link: 34145229
Variant Present in the following documents:
  • Main text
  • 41467_2021_23453_MOESM4_ESM.xlsx, sheet 1
  • 41467_2021_Article_23453.pdf
  • 41467_2021_23453_MOESM9_ESM.xlsx, sheet 1
View BVdb publication page



Exome sequencing for bipolar disorder points to roles of de novo loss-of-function and protein-altering mutations.

Molecular Psychiatry
Kataoka, M M; Matoba, N N; Sawada, T T; Kazuno, A-A AA; Ishiwata, M M; Fujii, K K; Matsuo, K K; Takata, A A; Kato, T T
Publication Date: 2016-07

Variant appearance in text: KMT2C: K3601X
PubMed Link: 27217147
Variant Present in the following documents:
  • Main text
  • mp201669a.pdf
  • mp201669x3.xlsx, sheet 1
View BVdb publication page