KMT2D c.4143G>A ;(p.V1381=)

Variant ID: 12-49441841-C-T

NM_003482.3(KMT2D):c.4143G>A;(p.V1381=)

This variant was identified in 1 publication

View GRCh38 version.




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: 4143G>A; V1381V
PubMed Link: 28933623
Variant Present in the following documents:
  • Main text
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