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KMT2D c.14113_14123del ;(p.I4705Ffs*4)
Variant ID: 12-49422971-AGCTGGCACAAT-A
NM_003482.3(
KMT2D
):c.14113_14123del;(p.I4705Ffs*4)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Clinical Application of Whole Exome Sequencing for Monogenic Disorders in PICU of China.
Frontiers In Genetics
Liu, Yingchao Y; Hao, Chanjuan C; Li, Kechun K; Hu, Xuyun X; Gao, Hengmiao H; Zeng, Jiansheng J; Guo, Ruolan R; Liu, Jun J; Guo, Jun J; Li, Zheng Z; Qi, Zhan Z; Jia, Xinlei X; Li, Wei W; Qian, Suyun S
Publication Date: 2021
Variant appearance in text: KMT2D: 14113_14123del; Ile4705Phefs*4
PubMed Link:
34539730
Variant Present in the following documents:
Main text
Table_1.xlsx, sheet 1
fgene-12-677699.pdf
View BVdb publication page