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KMT2C c.1423C>T ;(p.H475Y)
Variant ID: 7-151949677-G-A
NM_170606.2(
KMT2C
):c.1423C>T;(p.H475Y)
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:
An integrated DNA and RNA variant detector identifies a highly conserved three base exon in the MAP4K5 kinase locus.
Rna Biology
Kurkowiak, Małgorzata M; Grasso, Giuseppa G; Faktor, Jakub J; Scheiblecker, Lisa L; Winniczuk, Małgorzata M; Mayordomo, Marcos Yebenes MY; O'Neill, J Robert JR; Oster, Bodil B; Vojtesek, Borek B; Al-Saadi, Ali A; Marek-Trzonkowska, Natalia N; Hupp, Ted R TR
Publication Date: 2021-12
Variant appearance in text: KMT2C: His475Tyr
PubMed Link:
34190025
Variant Present in the following documents:
Main text
KRNB_18_1932345.pdf
View BVdb publication page
Whole-exome mutational landscape of neuroendocrine carcinomas of the gallbladder.
Signal Transduction And Targeted Therapy
Liu, Fatao F; Li, Yongsheng Y; Ying, Dongjian D; Qiu, Shimei S; He, Yong Y; Li, Maolan M; Liu, Yun Y; Zhang, Yijian Y; Zhu, Qin Q; Hu, Yunping Y; Liu, Liguo L; Li, Guoqiang G; Pan, Weihua W; Jin, Wei W; Mu, Jiasheng J; Cao, Yang Y; Liu, Yingbin Y
Publication Date: 2021-02-10
Variant appearance in text: KMT2C: His475Tyr
PubMed Link:
33563892
Variant Present in the following documents:
41392_2020_412_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page