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.




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
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