KMT2D c.3197A>T ;(p.D1066V)

Variant ID: 12-49444174-T-A

NM_003482.3(KMT2D):c.3197A>T;(p.D1066V)

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:

Molecular mechanics and dynamic simulations of well-known Kabuki syndrome-associated KDM6A variants reveal putative mechanisms of dysfunction.

Orphanet Journal Of Rare Diseases
Chi, Young-In YI; Stodola, Timothy J TJ; De Assuncao, Thiago M TM; Leverence, Elise N EN; Tripathi, Swarnendu S; Dsouza, Nikita R NR; Mathison, Angela J AJ; Basel, Donald G DG; Volkman, Brian F BF; Smith, Brian C BC; Lomberk, Gwen G; Zimmermann, Michael T MT; Urrutia, Raul R
Publication Date: 2021-02-05

Variant appearance in text: KMT2D: 3197A>T
PubMed Link: 33546721
Variant Present in the following documents:
  • 13023_2021_Article_1692.pdf
View BVdb publication page