Reactome | KMT2D K1885Qfs*18 [nucleoplasm]

Schema > EntityWithAccessionedSequence > Entries

compartment	[Compartment:7660] nucleoplasm
created	[InstanceEdit:9949985] Orlic-Milacic, Marija, 2025-05-27
crossReference	[DatabaseIdentifier:12020966] Mondo:0016512 [DatabaseIdentifier:9949982] ClinVar:VCV002687913
dbId	9949981
disease	[Disease:9944973] Kabuki syndrome
displayName	KMT2D K1885Qfs*18 [nucleoplasm]
endCoordinate	1901
hasModifiedResidue	[FragmentReplacedModification:9949984] Replacement of residues 1885 to 1901 by QDGIQGPAAALQGCSGL
inDisease	true
literatureReference	[LiteratureReference:9949915] Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patients
maxDepth	1
memberOf	[CandidateSet:R-HSA-9945024] KMT2D LOF variants (WRAD binding) [nucleoplasm] - Homo sapiens
name	KMT2D K1885Qfs*18
referenceEntity	[ReferenceGeneProduct:uniprot:O14686] UniProt:O14686 KMT2D
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-9949981
startCoordinate	1

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