KMT2D c.13090C>T ;(p.Q4364*)

Variant ID: 12-49425398-G-A

NM_003482.3(KMT2D):c.13090C>T;(p.Q4364*)

This variant was identified in 2 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: Q4364*
PubMed Link: 35363872
Variant Present in the following documents:
  • BLOODA_ADV-2021-005284-mmc1.xlsx, sheet 2
View BVdb publication page



Novel Variant Findings and Challenges Associated With the Clinical Integration of Genomic Testing: An Interim Report of the Genomic Medicine for Ill Neonates and Infants (GEMINI) Study.

Jama Pediatrics
Maron, Jill L JL; Kingsmore, Stephen F SF; Wigby, Kristen K; Chowdhury, Shimul S; Dimmock, David D; Poindexter, Brenda B; Suhrie, Kristen K; Vockley, Jerry J; Diacovo, Thomas T; Gelb, Bruce D BD; Stroustrup, Annemarie A; Powell, Cynthia M CM; Trembath, Andrea A; Gallen, Matthew M; Mullen, Thomas E TE; Tanpaiboon, Pranoot P; Reed, Dallas D; Kurfiss, Anne A; Davis, Jonathan M JM
Publication Date: 2021-05-01

Variant appearance in text: KMT2D: 13090C>T; Gln4364Ter
PubMed Link: 33587123
Variant Present in the following documents:
  • Main text
View BVdb publication page