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KMT2D c.6689C>A ;(p.P2230Q)
Variant ID: 12-49434864-G-T
NM_003482.3(
KMT2D
):c.6689C>A;(p.P2230Q)
This variant was identified in 1 publication
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: P2230Q
PubMed Link:
34977845
Variant Present in the following documents:
Main text
mmc1.xlsx, sheet 1
main.pdf
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: P2230Q
PubMed Link:
34977845
Variant Present in the following documents:
Main text
mmc1.xlsx, sheet 1
main.pdf
View BVdb publication page