KMT2C c.13758C>A ;(p.Y4586*)

Variant ID: 7-151845254-G-T

NM_170606.2(KMT2C):c.13758C>A;(p.Y4586*)

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:

MicroSEC filters sequence errors for formalin-fixed and paraffin-embedded samples.

Communications Biology
Ikegami, Masachika M; Kohsaka, Shinji S; Hirose, Takeshi T; Ueno, Toshihide T; Inoue, Satoshi S; Kanomata, Naoki N; Yamauchi, Hideko H; Mori, Taisuke T; Sekine, Shigeki S; Inamoto, Yoshihiro Y; Yatabe, Yasushi Y; Kobayashi, Hiroshi H; Tanaka, Sakae S; Mano, Hiroyuki H
Publication Date: 2021-12-15

Variant appearance in text: KMT2C: 13758C>A; Tyr4586*
PubMed Link: 34912045
Variant Present in the following documents:
  • 42003_2021_2930_MOESM4_ESM.xlsx, sheet 2
View BVdb publication page


MicroSEC filters sequence errors for formalin-fixed and paraffin-embedded samples.

Communications Biology
Ikegami, Masachika M; Kohsaka, Shinji S; Hirose, Takeshi T; Ueno, Toshihide T; Inoue, Satoshi S; Kanomata, Naoki N; Yamauchi, Hideko H; Mori, Taisuke T; Sekine, Shigeki S; Inamoto, Yoshihiro Y; Yatabe, Yasushi Y; Kobayashi, Hiroshi H; Tanaka, Sakae S; Mano, Hiroyuki H
Publication Date: 2021-12-15

Variant appearance in text: KMT2C: 13758C>A; Tyr4586*
PubMed Link: 34912045
Variant Present in the following documents:
  • 42003_2021_2930_MOESM4_ESM.xlsx, sheet 2
View BVdb publication page


Molecular profiling of basal cell carcinomas in young patients.

Bmc Medical Genomics
Abi Karam, Marc M; Kourie, Hampig Raphael HR; Jalkh, Nadine N; Mehawej, Cybel C; Kesrouani, Carole C; Haddad, Fady Gh FG; Feghaly, Iman I; Chouery, Eliane E; Tomb, Roland R
Publication Date: 2021-07-20

Variant appearance in text: KMT2C: 13758C>A; Tyr4586*
PubMed Link: 34284772
Variant Present in the following documents:
  • 12920_2021_1030_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page