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KMT2D c.7130C>T ;(p.P2377L)
Variant ID: 12-49434423-G-A
NM_003482.3(
KMT2D
):c.7130C>T;(p.P2377L)
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:
Integrated genomic analyses identify high-risk factors and actionable targets in T-cell acute lymphoblastic leukemia.
Blood Science (Baltimore, Md.)
Zhu, Haichuan H; Dong, Bingjie B; Zhang, Yingchi Y; Wang, Mei M; Rao, Jianan J; Cui, Bowen B; Liu, Yu Y; Jiang, Qian Q; Wang, Weitao W; Yang, Lu L; Yu, Anqi A; Li, Zongru Z; Liu, Chao C; Zhang, Leping L; Huang, Xiaojun X; Zhu, Xiaofan X; Wu, Hong H
Publication Date: 2022-01
Variant appearance in text: KMT2D: P2377L
PubMed Link:
35399540
Variant Present in the following documents:
bls-4-16-s005.xlsx, sheet 2
View BVdb publication page
Classification of gastric cancer by EBV status combined with molecular profiling predicts patient prognosis.
Clinical And Translational Medicine
He, Cai-Yun CY; Qiu, Miao-Zhen MZ; Yang, Xin-Hua XH; Zhou, Da-Lei DL; Ma, Jiang-Jun JJ; Long, Ya-Kang YK; Ye, Zu-Lu ZL; Xu, Bo-Heng BH; Zhao, Qi Q; Jin, Ying Y; Lu, Shi-Xun SX; Wang, Zhi-Qiang ZQ; Guan, Wen-Long WL; Zhao, Bai-Wei BW; Zhou, Zhi-Wei ZW; Shao, Jian-Yong JY; Xu, Rui-Hua RH
Publication Date: 2020-01
Variant appearance in text: KMT2D: 7130C>T; Pro2377Leu
PubMed Link:
32508039
Variant Present in the following documents:
CTM2-10-353-s003.xlsx, sheet 3
View BVdb publication page
Kabuki syndrome: novel pathogenic variants, new phenotypes and review of literature.
Orphanet Journal Of Rare Diseases
Shangguan, Huakun H; Su, Chang C; Ouyang, Qian Q; Cao, Bingyan B; Wang, Jian J; Gong, Chunxiu C; Chen, Ruimin R
Publication Date: 2019-11-14
Variant appearance in text: KMT2D: 7130C>T; P2377L
PubMed Link:
31727177
Variant Present in the following documents:
Main text
13023_2019_Article_1219.pdf
View BVdb publication page