KMT2D c.2990C>T ;(p.P997L)

Variant ID: 12-49444381-G-A

NM_003482.3(KMT2D):c.2990C>T;(p.P997L)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Genomic Analysis of Cutaneous CD30-Positive Lymphoproliferative Disorders.

Jid Innovations
Abdulla, Farah R FR; Zhang, Weiwei W; Wu, Xiwei X; Honda, Kord K; Qin, Hanjun H; Cho, Hyejin H; Querfeld, Christiane C; Zain, Jasmine J; Rosen, Steven Terry ST; Chan, Wing C WC; Parekh, Vishwas V; Song, Joo Y JY
Publication Date: 2022-01

Variant appearance in text: KMT2D: P997L
PubMed Link: 34977845
Variant Present in the following documents:
  • mmc1.xlsx, sheet 1
View BVdb publication page



Genomic Analysis of Cutaneous CD30-Positive Lymphoproliferative Disorders.

Jid Innovations : Skin Science From Molecules To Population Health
Abdulla, Farah R FR; Zhang, Weiwei W; Wu, Xiwei X; Honda, Kord K; Qin, Hanjun H; Cho, Hyejin H; Querfeld, Christiane C; Zain, Jasmine J; Rosen, Steven Terry ST; Chan, Wing C WC; Parekh, Vishwas V; Song, Joo Y JY
Publication Date: 2022-01

Variant appearance in text: KMT2D: P997L
PubMed Link: 34977845
Variant Present in the following documents:
  • mmc1.xlsx, sheet 1
View BVdb publication page



Tumor genetic heterogeneity analysis of chronic sun-damaged melanoma.

Pigment Cell & Melanoma Research
Sanna, Adriana A; Harbst, Katja K; Johansson, Iva I; Christensen, Gustav G; Lauss, Martin M; Mitra, Shamik S; Rosengren, Frida F; Häkkinen, Jari J; Vallon-Christersson, Johan J; Olsson, Håkan H; Ingvar, Åsa Å; Isaksson, Karolin K; Ingvar, Christian C; Nielsen, Kari K; Jönsson, Göran G
Publication Date: 2020-05

Variant appearance in text: KMT2D: 2990C>T
PubMed Link: 31811783
Variant Present in the following documents:
  • PCMR-33-480-s003.xls, sheet 1
View BVdb publication page