KMT2D c.9739C>A ;(p.L3247M)

Variant ID: 12-49431400-G-T

NM_003482.3(KMT2D):c.9739C>A;(p.L3247M)

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 : 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: L3247M
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
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: L3247M
PubMed Link: 34977845
Variant Present in the following documents:
  • mmc1.xlsx, sheet 1
View BVdb publication page