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WormBase Tree Display for Variation: WBVar02144836

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Name Class

WBVar02144836EvidencePaper_evidenceWBPaper00044649
NamePublic_nameky850
Other_nameCE17128:p.Gln27Ter
F57H12.7a.1:c.79C>T
HGVSgCHROMOSOME_IV:g.7987074G>A
Sequence_detailsSMapS_parentSequenceF57H12
Flanking_sequencescgtttggatcctatgagagttaagcaattgagtaagtttttgatatattcacttagttta
Mapping_targetF57H12
Type_of_mutationSubstitutionctPaper_evidenceWBPaper00044649
SeqStatusSequenced
OriginSpeciesCaenorhabditis elegans
LaboratoryCX
StatusLive
AffectsGeneWBGene00003178
TranscriptF57H12.7a.1VEP_consequencestop_gained,splice_region_variant
VEP_impactHIGH
HGVScF57H12.7a.1:c.79C>T
HGVSpCE17128:p.Gln27Ter
cDNA_position110
CDS_position79
Protein_position27
Exon_number2/7
Codon_changeCag/Tag
Amino_acid_changeQ/*
GeneticsInterpolated_map_positionIV3.5714
DescriptionPhenotypeWBPhenotype:0001224Paper_evidenceWBPaper00044649
Curator_confirmedWBPerson9270
RemarkOutgrowth of ALM posterior neurite; outgrowth of PLM posterior neurite (Figure S1D,E)Paper_evidenceWBPaper00044649
Curator_confirmedWBPerson9270
EQ_annotationsAnatomy_termWBbt:0005406PATO:0000460Paper_evidenceWBPaper00044649
Curator_confirmedWBPerson9270
WBbt:0005490PATO:0000460Paper_evidenceWBPaper00044649
Curator_confirmedWBPerson9270
GO_termGO:0007409PATO:0000460Paper_evidenceWBPaper00044649
Curator_confirmedWBPerson9270
WBPhenotype:0002364Paper_evidenceWBPaper00044649
Curator_confirmedWBPerson9270
RemarkFigure 1B, D, EPaper_evidenceWBPaper00044649
Curator_confirmedWBPerson9270
Disease_infoModels_diseaseDOID:1289
Models_disease_in_annotationWBDOannot00000612
ReferenceWBPaper00044649
MethodSubstitution_allele