KMT2D c.4140T>A ;(p.C1380*)

Variant ID: 12-49441844-A-T

NM_003482.3(KMT2D):c.4140T>A;(p.C1380*)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Molecular subclusters of follicular lymphoma: a report from the United Kingdom's Haematological Malignancy Research Network.

Blood Advances
Crouch, Simon S; Painter, Daniel D; Barrans, Sharon L SL; Roman, Eve E; Beer, Philip A PA; Cooke, Susanna L SL; Glover, Paul P; Van Hoppe, Suzan J L SJL; Webster, Nichola N; Lacy, Stuart E SE; Ruiz, Camilo C; Campbell, Peter J PJ; Hodson, Daniel J DJ; Patmore, Russell R; Burton, Cathy C; Smith, Alexandra A; Tooze, Reuben M RM
Publication Date: 2022-11-08

Variant appearance in text: KMT2D: C1380*
PubMed Link: 35363872
Variant Present in the following documents:
  • BLOODA_ADV-2021-005284-mmc1.xlsx, sheet 2
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: 4140T>A
PubMed Link: 31727177
Variant Present in the following documents:
  • 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: 4140T>A
PubMed Link: 25896430
Variant Present in the following documents:
  • Main text
  • 12881_2015_Article_171.pdf
View BVdb publication page