KMT2D c.6711G>C ;(p.Q2237H)

Variant ID: 12-49434842-C-G

NM_003482.3(KMT2D):c.6711G>C;(p.Q2237H)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


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: Q2237H
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: Q2237H
PubMed Link: 33428330
Variant Present in the following documents:
  • CJP2-7-243-s002.xlsx, sheet 1
View BVdb publication page