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Details on Person KMT2D L434Qfs*496 [nucleoplasm]

Class:IdEntityWithAccessionedSequence:9952567
_displayNameKMT2D L434Qfs*496 [nucleoplasm]
_timestamp2025-05-28 04:35:39
compartment[Compartment:7660] nucleoplasm
created[InstanceEdit:9952587] Orlic-Milacic, Marija, 2025-05-28
crossReference[DatabaseIdentifier:9951918] ClinVar:VCV000547402
disease[Disease:9944973] Kabuki syndrome
endCoordinate928
hasModifiedResidue[FragmentReplacedModification:9952516] Replacement of residues 434 to 928 by QTRRCHCCPHLRSHPCPHHLRNHPRPHHLRHHACHHHLRNCPHPHFLRHCTCPGRWRNRPSLRRLRSLLCLPHLNHHLFLHWRSRPCLHRKSHPHLLHLRRLYPHHLKHRPCPHHLKNLLCPRHLRNCPLPRHLKHLACLHHLRSHPCPLHLKSHPCLHHRRHLVCSHHLKSLLCPLHLRSLPFPHHLRHHACPHHLRTRLCPHHLKNHLCPPHLRYRAYPPCLWCHACLHRLRNLPCPHRLRSLPRPLHLRLHASPHHLRTPPHPHHLRTHLLPHHRRTRSCPCRWRSHPCCHYLRSRNSAPGPRGRTCHPGLRSRTCPPGLRSHTYLRRLRSHTCPPSLRSHAYALCLRSHTCPPRLRDHICPLSLRNCTCPPRLRSRTCLLCLRSHACPPNLRNHTCPPSLRSHACPPGLRNRICPLSLRSHPCPLGLKSPLRSQANALHLRSCPCSLPLGNHPYLPCLESQPCLSLGNHLCPLCPRSCRCPHLGSHPCRLS
nameKMT2D L434Qfs*496
referenceEntity[ReferenceGeneProduct:95334] UniProt:O14686 KMT2D [Homo sapiens]
species[Species:48887] Homo sapiens
stableIdentifier[StableIdentifier:9952833] R-HSA-9952567.1
startCoordinate1
(hasCandidate)[CandidateSet:9945024] KMT2D LOF variants (WRAD binding) [nucleoplasm] [Homo sapiens]
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No pathways have been reviewed or authored by KMT2D L434Qfs*496 [nucleoplasm] (9952567)
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