KMT2D c.14134G>T ;(p.E4712*)

Variant ID: 12-49422961-C-A

NM_003482.3(KMT2D):c.14134G>T;(p.E4712*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Integrated Genomic Analysis Identifies UBTF Tandem Duplications as a Recurrent Lesion in Pediatric Acute Myeloid Leukemia.

Blood Cancer Discovery
Umeda, Masayuki M; Ma, Jing J; Huang, Benjamin J BJ; Hagiwara, Kohei K; Westover, Tamara T; Abdelhamed, Sherif S; Barajas, Juan M JM; Thomas, Melvin E ME; Walsh, Michael P MP; Song, Guangchun G; Tian, Liqing L; Liu, Yanling Y; Chen, Xiaolong X; Kolekar, Pandurang P; Tran, Quang Q; Foy, Scott G SG; Maciaszek, Jamie L JL; Kleist, Andrew B AB; Leonti, Amanda R AR; Ju, Bengsheng B; Easton, John J; Wu, Huiyun H; Valentine, Virginia V; Valentine, Marcus B MB; Liu, Yen-Chun YC; Ries, Rhonda E RE; Smith, Jenny L JL; Parganas, Evan E; Iacobucci, Ilaria I; Hiltenbrand, Ryan R; Miller, Jonathan J; Myers, Jason R JR; Rampersaud, Evadnie E; Rahbarinia, Delaram D; Rusch, Michael M; Wu, Gang G; Inaba, Hiroto H; Wang, Yi-Cheng YC; Alonzo, Todd A TA; Downing, James R JR; Mullighan, Charles G CG; Pounds, Stanley S; Babu, M Madan MM; Zhang, Jinghui J; Rubnitz, Jeffrey E JE; Meshinchi, Soheil S; Ma, Xiaotu X; Klco, Jeffery M JM
Publication Date: 2022-05-05

Variant appearance in text: KMT2D: E4712*
PubMed Link: 35176137
Variant Present in the following documents:
  • bcd-21-0160_supplemental_tables_supp1-32.xlsx, sheet 18
View BVdb publication page



Adult-type granulosa cell tumor of the ovary: a FOXL2-centric disease.

The Journal Of Pathology. Clinical Research
Pilsworth, Jessica A JA; Cochrane, Dawn R DR; Neilson, Samantha J SJ; Moussavi, Bahar H BH; Lai, Daniel D; Munzur, Aslı D AD; Senz, Janine J; Wang, Yi Kan YK; Zareian, Sina S; Bashashati, Ali A; Wong, Adele A; Keul, Jacqueline J; Staebler, Annette A; van Meurs, Hannah S HS; Horlings, Hugo M HM; Kommoss, Stefan S; Kommoss, Friedrich F; Oliva, Esther E; Färkkilä, Anniina Em AE; Gilks, Blake B; Huntsman, David G DG
Publication Date: 2021-05

Variant appearance in text: KMT2D: E4712*
PubMed Link: 33428330
Variant Present in the following documents:
  • CJP2-7-243-s002.xlsx, sheet 1
View BVdb publication page



Adult-type granulosa cell tumor of the ovary: a FOXL2-centric disease.

The Journal Of Pathology. Clinical Research
Pilsworth, Jessica A JA; Cochrane, Dawn R DR; Neilson, Samantha J SJ; Moussavi, Bahar H BH; Lai, Daniel D; Munzur, Aslı D AD; Senz, Janine J; Wang, Yi Kan YK; Zareian, Sina S; Bashashati, Ali A; Wong, Adele A; Keul, Jacqueline J; Staebler, Annette A; van Meurs, Hannah S HS; Horlings, Hugo M HM; Kommoss, Stefan S; Kommoss, Friedrich F; Oliva, Esther E; Färkkilä, Anniina Em AE; Gilks, Blake B; Huntsman, David G DG
Publication Date: 2021-05

Variant appearance in text: KMT2D: E4712*
PubMed Link: 33428330
Variant Present in the following documents:
  • CJP2-7-243-s002.xlsx, sheet 1
View BVdb publication page