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KMT2D c.4706C>T ;(p.P1569L)
Variant ID: 12-49439738-G-A
NM_003482.3(
KMT2D
):c.4706C>T;(p.P1569L)
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:
Germline variants in UNC13D and AP3B1 are enriched in COVID-19 patients experiencing severe cytokine storms.
European Journal Of Human Genetics : Ejhg
Luo, Hui H; Liu, Dan D; Liu, Wenbing W; Wang, Gaoxiang G; Chen, Liting L; Cao, Yang Y; Wei, Jia J; Xiao, Min M; Liu, Xin X; Huang, Gang G; Wang, Wei W; Zhou, Jianfeng J; Wang, Qian-Fei QF
Publication Date: 2021-08
Variant appearance in text: KMT2D: 4706C>T; Pro1569Leu
PubMed Link:
33867526
Variant Present in the following documents:
41431_2021_886_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page