KMT2C c.14416C>G ;(p.R4806G)

Variant ID: 7-151836804-G-C

NM_170606.2(KMT2C):c.14416C>G;(p.R4806G)

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:

Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder.

American Journal Of Human Genetics
Krupp, Deidre R DR; Barnard, Rebecca A RA; Duffourd, Yannis Y; Evans, Sara A SA; Mulqueen, Ryan M RM; Bernier, Raphael R; Rivière, Jean-Baptiste JB; Fombonne, Eric E; O'Roak, Brian J BJ
Publication Date: 2017-09-07

Variant appearance in text: KMT2C: 14416C>G; Arg4806Gly
PubMed Link: 28867142
Variant Present in the following documents:
  • Main text
View BVdb publication page