KMT2D c.11897_11911del ;(p.F3966_Q3971delins*)

Variant ID: 12-49426577-TGCTGCTGCTGTTGAA-T

NM_003482.3(KMT2D):c.11897_11911del;(p.F3966_Q3971delins*)

This variant was identified in 2 publications

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: KMT2D: 11897_11911del; Phe3966_Gln3971delinsTer
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page


Divergent clonal evolution of a common precursor to mantle cell lymphoma and classic Hodgkin lymphoma.

Cold Spring Harbor Molecular Case Studies
Tashkandi, Hammad H; Petrova-Drus, Kseniya K; Batlevi, Connie Lee CL; Arcila, Maria E ME; Roshal, Mikhail M; Sen, Filiz F; Yao, Jinjuan J; Baik, Jeeyeon J; Bilger, Ashley A; Singh, Jessica J; de Frank, Stephanie S; Kumar, Anita A; Aryeequaye, Ruth R; Zhang, Yanming Y; Dogan, Ahmet A; Xiao, Wenbin W
Publication Date: 2019-12

Variant appearance in text: KMT2D: 11897_11911delTTCAACAGCAGCAGC; Phe3966_Gln3971delins*
PubMed Link: 31395597
Variant Present in the following documents:
  • Main text
  • MCS004259Tas.pdf
View BVdb publication page