KMT2D c.6200del ;(p.N2067Tfs*27)

Variant ID: 12-49435471-GT-G

NM_003482.3(KMT2D):c.6200del;(p.N2067Tfs*27)

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:

The defining DNA methylation signature of Kabuki syndrome enables functional assessment of genetic variants of unknown clinical significance.

Epigenetics
Aref-Eshghi, Erfan E; Schenkel, Laila C LC; Lin, Hanxin H; Skinner, Cindy C; Ainsworth, Peter P; Paré, Guillaume G; Rodenhiser, David D; Schwartz, Charles C; Sadikovic, Bekim B
Publication Date: 2017

Variant appearance in text: KMT2D: 6200delA
PubMed Link: 28933623
Variant Present in the following documents:
  • Main text
View BVdb publication page