KMT2D c.400+1G>T

Variant ID: 12-49448310-C-A

NM_003482.3(KMT2D):c.400+1G>T

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:

A Novel Intronic KMT2D Variant as a Cause of Kabuki Syndrome: A Case Report.

The Application Of Clinical Genetics
Aristizábal, Erica E; Diaz-Ordóñez, Lorena L; Candelo, Estephania E; Pachajoa, Harry H
Publication Date: 2021

Variant appearance in text: KMT2D: 400+1G>T
PubMed Link: 34675602
Variant Present in the following documents:
  • Main text
  • tacg-14-409.pdf
View BVdb publication page