Questions, Feedback & Help
Send us an email and we'll get back to you ASAP. Or you can read our Frequently Asked Questions.

WormBase Tree Display for Variation: WBVar00296805

expand all nodes | collapse all nodes | view schema

Name Class

WBVar00296805EvidencePaper_evidenceWBPaper00037647
NamePublic_nameju445
Other_nameK09C8.5.1:c.546-1G>A
HGVSgCHROMOSOME_X:g.10978306C>T
Sequence_detailsSMapS_parentSequenceF59F3
Flanking_sequencesaacaatattgactgaataattttaaattaaaatggttaatgtaaaacaatttgctgattc
Mapping_targetF59F3
Type_of_mutationSubstitutionga
SeqStatusSequenced
Variation_typeAllele
OriginSpeciesCaenorhabditis elegans
LaboratoryCZ
StatusLive
AffectsGeneWBGene00004257
TranscriptK09C8.5.1VEP_consequencesplice_acceptor_variant
VEP_impactHIGH
HGVScK09C8.5.1:c.546-1G>A
Intron_number5/22
IsolationMutagenEMSPaper_evidenceWBPaper00037647
GeneticsInterpolated_map_positionX2.78914
DescriptionPhenotypeWBPhenotype:0000050Paper_evidenceWBPaper00037647
Curator_confirmedWBPerson10095
PenetranceComplete100%Paper_evidenceWBPaper00037647
Curator_confirmedWBPerson10095
RecessivePaper_evidenceWBPaper00037647
Curator_confirmedWBPerson10095
Variation_effectProbable_null_via_phenotypePaper_evidenceWBPaper00037647
Curator_confirmedWBPerson10095
WBPhenotype:0000057Paper_evidenceWBPaper00037647
Curator_confirmedWBPerson10095
PenetranceComplete100%Paper_evidenceWBPaper00037647
Curator_confirmedWBPerson10095
RecessivePaper_evidenceWBPaper00037647
Curator_confirmedWBPerson10095
Variation_effectProbable_null_via_phenotypePaper_evidenceWBPaper00037647
Curator_confirmedWBPerson10095
WBPhenotype:0002588Paper_evidenceWBPaper00037647
Curator_confirmedWBPerson10095
PenetranceComplete100%Paper_evidenceWBPaper00037647
Curator_confirmedWBPerson10095
RecessivePaper_evidenceWBPaper00037647
Curator_confirmedWBPerson10095
Variation_effectProbable_null_via_phenotypePaper_evidenceWBPaper00037647
Curator_confirmedWBPerson10095
EQ_annotationsAnatomy_termWBbt:0005733PATO:0000460Paper_evidenceWBPaper00037647
Curator_confirmedWBPerson10095
WBbt:0005813PATO:0000460Paper_evidenceWBPaper00037647
Curator_confirmedWBPerson10095
Life_stageWBls:0000003PATO:0000460Paper_evidenceWBPaper00037647
Curator_confirmedWBPerson10095
GO_termGO:0009790PATO:0000460Paper_evidenceWBPaper00037647
Curator_confirmedWBPerson10095
GO:0005604PATO:0000460Paper_evidenceWBPaper00037647
Curator_confirmedWBPerson10095
ReferenceWBPaper00037647
MethodSubstitution_allele