KMT2D c.12800del ;(p.P4267Lfs*11)

Variant ID: 12-49425687-AG-A

NM_003482.3(KMT2D):c.12800del;(p.P4267Lfs*11)

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:

Neurobehavioral features in individuals with Kabuki syndrome.

Molecular Genetics & Genomic Medicine
Caciolo, Cristina C; Alfieri, Paolo P; Piccini, Giorgia G; Digilio, Maria Cristina MC; Lepri, Francesca Romana FR; Tartaglia, Marco M; Menghini, Deny D; Vicari, Stefano S
Publication Date: 2018-05

Variant appearance in text: KMT2D: 12800delC
PubMed Link: 29536651
Variant Present in the following documents:
  • Main text
  • MGG3-6-322.pdf
View BVdb publication page