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KMT2D c.10640G>T ;(p.R3547L)
Variant ID: 12-49427950-C-A
NM_003482.3(
KMT2D
):c.10640G>T;(p.R3547L)
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:
Clinical and mutational profiles of adult medulloblastoma groups.
Acta Neuropathologica Communications
Wong, Gabriel Chun-Hei GC; Li, Kay Ka-Wai KK; Wang, Wei-Wei WW; Liu, Anthony Pak-Yin AP; Huang, Queenie Junqi QJ; Chan, Aden Ka-Yin AK; Poon, Manix Fung-Man MF; Chung, Nellie Yuk-Fei NY; Wong, Queenie Hoi-Wing QH; Chen, Hong H; Chan, Danny Tat Ming DTM; Liu, Xian-Zhi XZ; Mao, Ying Y; Zhang, Zhen-Yu ZY; Shi, Zhi-Feng ZF; Ng, Ho-Keung HK
Publication Date: 2020-11-10
Variant appearance in text: KMT2D: R3547L
PubMed Link:
33172502
Variant Present in the following documents:
40478_2020_1066_MOESM2_ESM.xlsx, sheet 4
View BVdb publication page