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KMT2D c.11093del ;(p.G3698Afs*51)
Variant ID: 12-49427394-GC-G
NM_003482.3(
KMT2D
):c.11093del;(p.G3698Afs*51)
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:
A next-generation sequencing-based strategy combining microsatellite instability and tumor mutation burden for comprehensive molecular diagnosis of advanced colorectal cancer.
Bmc Cancer
Xiao, Jian J; Li, Wenyun W; Huang, Yan Y; Huang, Mengli M; Li, Shanshan S; Zhai, Xiaohui X; Zhao, Jing J; Gao, Chan C; Xie, Wenzhuan W; Qin, Hao H; Cai, Shangli S; Bai, Yuezong Y; Lan, Ping P; Zou, Yifeng Y
Publication Date: 2021-03-16
Variant appearance in text: KMT2D: 11093del; G3698Afs*51
PubMed Link:
33726687
Variant Present in the following documents:
12885_2021_7942_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page
De Novo KMT2D Heterozygous Frameshift Deletion in a Newborn with a Congenital Heart Anomaly.
Balkan Journal Of Medical Genetics : Bjmg
Stangler Herodež, Š Š; Marčun Varda, N N; N, Kokalj Vokač KV; Krgović, D D
Publication Date: 2020-06
Variant appearance in text: KMT2D: 11093delG
PubMed Link:
32953414
Variant Present in the following documents:
Main text
View BVdb publication page