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Details on Person SERPING1 W482* [endoplasmic reticulum lumen]

Class:Id	EntityWithAccessionedSequence:9650502
_displayName	SERPING1 W482* [endoplasmic reticulum lumen]
_timestamp	2020-01-10 04:17:53
compartment	[Compartment:17957] endoplasmic reticulum lumen
created	[InstanceEdit:9650469] Shamovsky, Veronica, 2019-06-21
crossReference	[DatabaseIdentifier:9674120] ClinVar:VCV000690351.1
disease	[Disease:9650398] C1 inhibitor deficiency
endCoordinate	481
hasModifiedResidue	[NonsenseMutation:9650550] Nonsense mutation at L-tryptophan 482
literatureReference	[LiteratureReference:9650509] Detection of C1 inhibitor (SERPING1/C1NH) mutations in exon 8 in patients with hereditary angioedema: evidence for 10 novel mutations
modified	[InstanceEdit:9651389] Shamovsky, Veronica, 2019-06-25 [InstanceEdit:9674110] Shamovsky, Veronica, 2020-01-10
name	SERPING1 W482* C1Inh W482* plasma protease C1 inhibitor W482* C1-Inh W482TER
referenceEntity	[ReferenceGeneProduct:57002] UniProt:P05155 SERPING1 [Homo sapiens]
species	[Species:48887] Homo sapiens
stableIdentifier	[StableIdentifier:9650608] R-HSA-9650502.1
startCoordinate	23
(hasCandidate)	[CandidateSet:9650455] Non-secretable SERPING1 variants [endoplasmic reticulum lumen] [Homo sapiens]
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No pathways have been reviewed or authored by SERPING1 W482* [endoplasmic reticulum lumen] (9650502)