KMT2D c.2837C>G ;(p.A946G)

Variant ID: 12-49444534-G-C

NM_003482.3(KMT2D):c.2837C>G;(p.A946G)

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:

Dissecting KMT2D missense mutations in Kabuki syndrome patients.

Human Molecular Genetics
Cocciadiferro, Dario D; Augello, Bartolomeo B; De Nittis, Pasquelena P; Zhang, Jiyuan J; Mandriani, Barbara B; Malerba, Natascia N; Squeo, Gabriella M GM; Romano, Alessandro A; Piccinni, Barbara B; Verri, Tiziano T; Micale, Lucia L; Pasqualucci, Laura L; Merla, Giuseppe G
Publication Date: 2018-11-01

Variant appearance in text: KMT2D: 2837C>G; Ala946Gly
PubMed Link: 30107592
Variant Present in the following documents:
  • Main text
View BVdb publication page