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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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