KMT2D c.3073_3074delinsGG ;(p.S1025G)

Variant ID: 12-49444297-GA-CC

NM_003482.3(KMT2D):c.3073_3074delinsGG;(p.S1025G)

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:

UTX-guided neural crest function underlies craniofacial features of Kabuki syndrome.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Shpargel, Karl B KB; Starmer, Joshua J; Wang, Chaochen C; Ge, Kai K; Magnuson, Terry T
Publication Date: 2017-10-24

Variant appearance in text: KMT2D: S1025G
PubMed Link: 29073101
Variant Present in the following documents:
  • Main text
View BVdb publication page