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KMT2D c.9832C>A ;(p.Q3278K)
Variant ID: 12-49431307-G-T
NM_003482.3(
KMT2D
):c.9832C>A;(p.Q3278K)
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:
De novo KAT6B Mutation Identified with Whole-Exome Sequencing in a Girl with Say-Barber/Biesecker/Young-Simpson Syndrome.
Molecular Syndromology
Lundsgaard, Malene M; Le, Vang Q VQ; Ernst, Anja A; Laugaard-Jacobsen, Hans C HC; Rasmussen, Kirsten K; Pedersen, Inge S IS; Petersen, Michael B MB
Publication Date: 2017-01
Variant appearance in text: KMT2D: 9832C>A
PubMed Link:
28232779
Variant Present in the following documents:
Main text
View BVdb publication page