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KMT2D c.12464C>T ;(p.P4155L)
Variant ID: 12-49426024-G-A
NM_003482.3(
KMT2D
):c.12464C>T;(p.P4155L)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Author Correction: Integrative molecular and clinical profiling of acral melanoma links focal amplification of 22q11.21 to metastasis.
Nature Communications
Farshidfar, Farshad F; Rhrissorrakrai, Kahn K; Levovitz, Chaya C; Peng, Cong C; Knight, James J; Bacchiocchi, Antonella A; Su, Juan J; Yin, Mingzhu M; Sznol, Mario M; Ariyan, Stephan S; Clune, James J; Olino, Kelly K; Parida, Laxmi L; Nikolaus, Joerg J; Zhang, Meiling M; Zhao, Shuang S; Wang, Yan Y; Huang, Gang G; Wan, Miaojian M; Li, Xianan X; Cao, Jian J; Yan, Qin Q; Chen, Xiang X; Newman, Aaron M AM; Halaban, Ruth R
Publication Date: 2022-05-10
Variant appearance in text: KMT2D: P4155L
PubMed Link:
35538087
Variant Present in the following documents:
41467_2022_30446_MOESM1_ESM.xlsx, sheet 3
View BVdb publication page
Integrative molecular and clinical profiling of acral melanoma links focal amplification of 22q11.21 to metastasis.
Nature Communications
Farshidfar, Farshad F; Rhrissorrakrai, Kahn K; Levovitz, Chaya C; Peng, Cong C; Knight, James J; Bacchiocchi, Antonella A; Su, Juan J; Yin, Mingzhu M; Sznol, Mario M; Ariyan, Stephan S; Clune, James J; Olino, Kelly K; Parida, Laxmi L; Nikolaus, Joerg J; Zhang, Meiling M; Zhao, Shuang S; Wang, Yan Y; Huang, Gang G; Wan, Miaojian M; Li, Xianan X; Cao, Jian J; Yan, Qin Q; Chen, Xiang X; Newman, Aaron M AM; Halaban, Ruth R
Publication Date: 2022-02-23
Variant appearance in text: KMT2D: P4155L
PubMed Link:
35197475
Variant Present in the following documents:
41467_2022_28566_MOESM5_ESM.xlsx, sheet 3
View BVdb publication page
Case Report: Molecular Characterization of Aggressive Malignant Retroperitoneal Solitary Fibrous Tumor: A Case Study.
Frontiers In Oncology
Nonaka, Haruna H; Kandori, Shuya S; Nitta, Satoshi S; Shiga, Masanobu M; Nagumo, Yoshiyuki Y; Kimura, Tomokazu T; Kawahara, Takashi T; Negoro, Hiromitsu H; Hoshi, Akio A; Kojima, Takahiro T; Kawai, Koji K; Mathis, Bryan J BJ; Tamura, Takuro T; Sato, Taka-Aki TA; Yamato, Mariko M; Noguchi, Masayuki M; Nishiyama, Hiroyuki H
Publication Date: 2021
Variant appearance in text: KMT2D: Pro4155Leu
PubMed Link:
35004271
Variant Present in the following documents:
Table_2.xlsx, sheet 1
Table_5.xlsx, sheet 1
View BVdb publication page