KMT2D c.6113G>A ;(p.W2038*)

Variant ID: 12-49435770-C-T

NM_003482.3(KMT2D):c.6113G>A;(p.W2038*)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Genomic and microenvironmental landscape of stage I follicular lymphoma, compared with stage III/IV.

Blood Advances
Los-de Vries, G Tjitske GT; Stevens, Wendy B C WBC; van Dijk, Erik E; Langois-Jacques, Carole C; Clear, Andrew J AJ; Stathi, Phylicia P; Roemer, Margaretha G M MGM; Mendeville, Matias M; Hijmering, Nathalie J NJ; Sander, Birgitta B; Rosenwald, Andreas A; Calaminici, Maria M; Hoster, Eva E; Hiddemann, Wolfgang W; Gaulard, Philippe P; Salles, Gilles G; Horn, Heike H; Klapper, Wolfram W; Xerri, Luc L; Burton, Catherine C; Tooze, Reuben M RM; Smith, Alexandra G AG; Buske, Christian C; Scott, David W DW; Natkunam, Yasodha Y; Advani, Ranjana R; Sehn, Laurie H LH; Raemaekers, John J; Gribben, John J; Kimby, Eva E; Kersten, Marie José MJ; Maucort-Boulch, Delphine D; Ylstra, Bauke B; de Jong, Daphne D
Publication Date: 2022-09-27

Variant appearance in text: KMT2D: 6113G>A; W2038*
PubMed Link: 35816682
Variant Present in the following documents:
  • advancesADV2022008355-suppl2.xlsx, sheet 11
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: W2038*
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: W2038*
PubMed Link: 33428330
Variant Present in the following documents:
  • CJP2-7-243-s002.xlsx, sheet 1
View BVdb publication page



DNAJB1-PRKACA fusions occur in oncocytic pancreatic and biliary neoplasms and are not specific for fibrolamellar hepatocellular carcinoma.

Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc
Vyas, Monika M; Hechtman, Jaclyn F JF; Zhang, Yanming Y; Benayed, Ryma R; Yavas, Aslihan A; Askan, Gokce G; Shia, Jinru J; Klimstra, David S DS; Basturk, Olca O
Publication Date: 2020-04

Variant appearance in text: KMT2D: W2038X
PubMed Link: 31676785
Variant Present in the following documents:
  • Main text
  • nihms-1540840.pdf
View BVdb publication page