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WormBase Tree Display for Variation: WBVar00241556

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Name Class

WBVar00241556EvidencePaper_evidenceWBPaper00032247
NamePublic_namerh148
Other_nameZC504.4b.1:c.503T>A
CE25673:p.Val168Glu
ZC504.4c.1:c.503T>A
ZC504.4d.1:c.503T>A
ZC504.4a.1:c.503T>A
CE32767:p.Val168Glu
CE28273:p.Val168Glu
CE25672:p.Val168Glu
HGVSgCHROMOSOME_X:g.10427352A>T
Sequence_detailsSMapS_parentSequenceZC504
Flanking_sequencesttgtcaagttgtgcagatactccgaaatctccagcttcacctcagcactgtccgtaagaa
Mapping_targetZC504
Type_of_mutationSubstitutionatCurator_confirmedWBPerson4055
SeqStatusSequenced
Variation_typeAllele
OriginSpeciesCaenorhabditis elegans
StrainWBStrain00024147
WBStrain00028845
LaboratoryNJ
StatusLive
AffectsGeneWBGene00003247
TranscriptZC504.4d.1 (12)
ZC504.4a.1 (12)
ZC504.4c.1 (12)
ZC504.4b.1 (12)
GeneticsInterpolated_map_positionX2.19101
Mapping_dataIn_multi_point3293
3294
3295
3296
DescriptionPhenotypeWBPhenotype:0000016Paper_evidenceWBPaper00035198
Curator_confirmedWBPerson712
Variation_effectHypermorph_gain_of_functionPaper_evidenceWBPaper00035198
Curator_confirmedWBPerson712
Affected_byMoleculeWBMol:00003650Paper_evidenceWBPaper00035198
Curator_confirmedWBPerson712
EQ_annotationsAnatomy_termWBbt:0007833PATO:0001549Paper_evidenceWBPaper00035198
Curator_confirmedWBPerson712
WBPhenotype:0000273Paper_evidenceWBPaper00035198
Curator_confirmedWBPerson712
RemarkAnimals exhibit reduced thrashing compared to wild type animals.Paper_evidenceWBPaper00035198
Curator_confirmedWBPerson712
WBPhenotype:0000469Person_evidenceWBPerson261
Curator_confirmedWBPerson712
RemarkQL migration resembles QR. Pleiotropic defects in hypodermisPerson_evidenceWBPerson261
Curator_confirmedWBPerson712
EQ_annotationsAnatomy_termWBbt:0004056PATO:0000460Person_evidenceWBPerson261
Curator_confirmedWBPerson712
WBPhenotype:0000631Paper_evidenceWBPaper00035198
Curator_confirmedWBPerson712
RemarkAnimals exhibit anterior convulsions when treated with pentylenetetrazole(PTZ).Paper_evidenceWBPaper00035198
Curator_confirmedWBPerson712
Affected_byMoleculeWBMol:00004251Paper_evidenceWBPaper00035198
Curator_confirmedWBPerson712
WBPhenotype:0000701Person_evidenceWBPerson261
Curator_confirmedWBPerson712
RemarkPleiotropic defects in hypodermisPerson_evidenceWBPerson261
Curator_confirmedWBPerson712
EQ_annotationsAnatomy_termWBbt:0005733PATO:0000460Person_evidenceWBPerson261
Curator_confirmedWBPerson712
Phenotype_not_observedWBPhenotype:0000571Paper_evidenceWBPaper00035198
Curator_confirmedWBPerson712
RemarkNo gaps in the pattern of fluorescence of juIs1[Punc-25::SNB-1::GFP] labeled synaptic vesicles were observed in GABAergic D-type motor neurons.Paper_evidenceWBPaper00035198
Curator_confirmedWBPerson712
EQ_annotationsAnatomy_termWBbt:0005190PATO:0000460Paper_evidenceWBPaper00035198
Curator_confirmedWBPerson712
WBbt:0005303PATO:0000460Paper_evidenceWBPaper00035198
Curator_confirmedWBPerson712
WBbt:0005270PATO:0000460Paper_evidenceWBPaper00035198
Curator_confirmedWBPerson712
Disease_infoModels_diseaseDOID:1826
Models_disease_in_annotationWBDOannot00000555
ReferenceWBPaper00015437
WBPaper00022857
WBPaper00014322
WBPaper00035198
WBPaper00032247
RemarkVariation flanks and nucleotide change automatically updated to be on the positive strand to fix mapping and gff dumping issues.
[200224 mh6] reverse complemented/swapped the change and flanks to move the variation onto the plus strandCurator_confirmedWBPerson4055
MethodSubstitution_allele