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WormBase Tree Display for Variation: WBVar00296804

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Name Class

WBVar00296804EvidencePaper_evidenceWBPaper00037647
NamePublic_nameju436
Other_nameK09C8.5.1:c.2215C>T
CE18882:p.His739Tyr
HGVSgCHROMOSOME_X:g.10976248G>A
Sequence_detailsSMapS_parentSequenceK09C8
Flanking_sequencesgtgctaattggaacagatgaaactacgccgatagtcatttgagtgcaatgactatgcaat
Mapping_targetK09C8
Type_of_mutationSubstitutionct
SeqStatusSequenced
Variation_typeAllele
OriginSpeciesCaenorhabditis elegans
LaboratoryCZ
StatusLive
AffectsGeneWBGene00004257
TranscriptK09C8.5.1 (12)
IsolationMutagenEMSPaper_evidenceWBPaper00037647
GeneticsInterpolated_map_positionX2.78602
DescriptionPhenotypeWBPhenotype:0000409Paper_evidenceWBPaper00037647
Curator_confirmedWBPerson10095
RemarkBent head or body is most common morphology defect, visible most prominently in early larval wormsPaper_evidenceWBPaper00037647
Curator_confirmedWBPerson10095
PenetranceIncomplete20%Paper_evidenceWBPaper00037647
Curator_confirmedWBPerson10095
RecessivePaper_evidenceWBPaper00037647
Curator_confirmedWBPerson10095
Variation_effectLoss_of_function_undetermined_extentPaper_evidenceWBPaper00037647
Curator_confirmedWBPerson10095
EQ_annotationsLife_stageWBls:0000024PATO:0000460Paper_evidenceWBPaper00037647
Curator_confirmedWBPerson10095
WBls:0000027PATO:0000460Paper_evidenceWBPaper00037647
Curator_confirmedWBPerson10095
WBPhenotype:0001294Paper_evidenceWBPaper00037647
Curator_confirmedWBPerson10095
RemarkBent head or body is most common morphology defect, visible most prominently in early larval wormsPaper_evidenceWBPaper00037647
Curator_confirmedWBPerson10095
PenetranceIncomplete20%Paper_evidenceWBPaper00037647
Curator_confirmedWBPerson10095
RecessivePaper_evidenceWBPaper00037647
Curator_confirmedWBPerson10095
Variation_effectLoss_of_function_undetermined_extentPaper_evidenceWBPaper00037647
Curator_confirmedWBPerson10095
EQ_annotationsLife_stageWBls:0000024PATO:0000460Paper_evidenceWBPaper00037647
Curator_confirmedWBPerson10095
WBls:0000027PATO:0000460Paper_evidenceWBPaper00037647
Curator_confirmedWBPerson10095
WBPhenotype:0002342Paper_evidenceWBPaper00037647
Curator_confirmedWBPerson10095
RemarkBent head or body is most common morphology defect, visible most prominently in early larval wormsPaper_evidenceWBPaper00037647
Curator_confirmedWBPerson10095
PenetranceIncomplete20%Paper_evidenceWBPaper00037647
Curator_confirmedWBPerson10095
RecessivePaper_evidenceWBPaper00037647
Curator_confirmedWBPerson10095
Variation_effectLoss_of_function_undetermined_extentPaper_evidenceWBPaper00037647
Curator_confirmedWBPerson10095
EQ_annotationsLife_stageWBls:0000024PATO:0000460Paper_evidenceWBPaper00037647
Curator_confirmedWBPerson10095
WBls:0000027PATO:0000460Paper_evidenceWBPaper00037647
Curator_confirmedWBPerson10095
WBPhenotype:0002588Paper_evidenceWBPaper00037647
Curator_confirmedWBPerson10095
PenetranceIncomplete20%Paper_evidenceWBPaper00037647
Curator_confirmedWBPerson10095
RecessivePaper_evidenceWBPaper00037647
Curator_confirmedWBPerson10095
Variation_effectLoss_of_function_undetermined_extentPaper_evidenceWBPaper00037647
Curator_confirmedWBPerson10095
EQ_annotationsAnatomy_termWBbt:0005733PATO:0000460Paper_evidenceWBPaper00037647
Curator_confirmedWBPerson10095
WBbt:0005813PATO:0000460Paper_evidenceWBPaper00037647
Curator_confirmedWBPerson10095
Life_stageWBls:0000003PATO:0000460Paper_evidenceWBPaper00037647
Curator_confirmedWBPerson10095
WBls:0000023PATO:0000460Paper_evidenceWBPaper00037647
Curator_confirmedWBPerson10095
GO_termGO:0009790PATO:0000460Paper_evidenceWBPaper00037647
Curator_confirmedWBPerson10095
GO:0005604PATO:0000460Paper_evidenceWBPaper00037647
Curator_confirmedWBPerson10095
ReferenceWBPaper00037647
MethodSubstitution_allele