KMT2D c.133_134delinsTT ;(p.S45F)

Variant ID: 12-49448725-CT-AA

NM_003482.3(KMT2D):c.133_134delinsTT;(p.S45F)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Genomic attributes of homology-directed DNA repair deficiency in metastatic prostate cancer.

Jci Insight
De Sarkar, Navonil N; Dasgupta, Sayan S; Chatterjee, Payel P; Coleman, Ilsa I; Ha, Gavin G; Ang, Lisa S LS; Kohlbrenner, Emily A EA; Frank, Sander B SB; Nunez, Talina A TA; Salipante, Stephen J SJ; Corey, Eva E; Morrissey, Colm C; Van Allen, Eliezer E; Schweizer, Michael T MT; Haffner, Michael C MC; Patel, Radhika R; Hanratty, Brian B; Lucas, Jared M JM; Dumpit, Ruth F RF; Pritchard, Colin C CC; Montgomery, Robert B RB; Nelson, Peter S PS
Publication Date: 2021-12-08

Variant appearance in text: KMT2D: S45F
PubMed Link: 34877933
Variant Present in the following documents:
  • jciinsight-6-152789-s069.xlsx, sheet 8
View BVdb publication page



Prognostic Significance of Oxidation Pathway Mutations in Recurrent Laryngeal Squamous Cell Carcinoma.

Cancers
Heft Neal, Molly E ME; Bhangale, Apurva D AD; Birkeland, Andrew C AC; McHugh, Jonathan B JB; Shuman, Andrew G AG; Rosko, Andrew J AJ; Swiecicki, Paul L PL; Spector, Matthew E ME; Brenner, J Chad JC
Publication Date: 2020-10-22

Variant appearance in text: KMT2D: S45F
PubMed Link: 33105726
Variant Present in the following documents:
  • cancers-12-03081.pdf
View BVdb publication page