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KMT2D c.7397T>C ;(p.L2466S)
Variant ID: 12-49434156-A-G
NM_003482.3(
KMT2D
):c.7397T>C;(p.L2466S)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Olaparib is effective for recurrent urothelial carcinoma with BRCA2 pathogenic germline mutation: first report on olaparib response in recurrent UC.
Therapeutic Advances In Medical Oncology
Yang, Hong H; Liu, Zhimin Z; Wang, Yufang Y; Li, Jun J; Li, Ruiqian R; Wang, Qilin Q; Hu, Chen C; Jiang, Haiyang H; Wu, Hongyi H; Song, Lele L; Bai, Yu Y
Publication Date: 2020
Variant appearance in text: KMT2D: 7397T>C
PubMed Link:
33240400
Variant Present in the following documents:
Main text
10.1177_1758835920970845.pdf
View BVdb publication page
Familial multifocal micronodular pneumocyte hyperplasia with a novel splicing mutation in TSC1: Three cases in one family.
Plos One
Shoji, Tetsuaki T; Konno, Satoshi S; Niida, Yo Y; Ogi, Takahiro T; Suzuki, Masaru M; Shimizu, Kaoruko K; Hida, Yasuhiro Y; Kaga, Kichizo K; Seyama, Kuniaki K; Naka, Tomoaki T; Matsuno, Yoshihiro Y; Nishimura, Masaharu M
Publication Date: 2019
Variant appearance in text: KMT2D: 7397T>C
PubMed Link:
30794603
Variant Present in the following documents:
pone.0212370.s008.xlsx, sheet 1
View BVdb publication page