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WormBase Tree Display for Variation: WBVar00088052

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Name Class

WBVar00088052EvidencePaper_evidenceWBPaper00028472
NamePublic_nameit150
Other_nameF57B9.2d.1:c.2692-1G>A
F57B9.2c.1:c.4069-1G>A
F57B9.2b.1:c.4939-1G>A
F57B9.2a.1:c.4990-1G>A
HGVSgCHROMOSOME_III:g.6955045G>A
Sequence_detailsSMapS_parentSequenceF57B9
Flanking_sequencestaaacatcatcgtaagttaacttattttcaatgcgtgcgatgaccgctggaatggctatg
Mapping_targetF57B9
Type_of_mutationSubstitutiongaPaper_evidenceWBPaper00028472
SeqStatusSequenced
Variation_typeAllele
OriginSpeciesCaenorhabditis elegans
StrainWBStrain00033369
LaboratoryKK
StatusLive
AffectsGeneWBGene00002845
TranscriptF57B9.2c.1VEP_consequencesplice_acceptor_variant
VEP_impactHIGH
HGVScF57B9.2c.1:c.4069-1G>A
Intron_number8/11
F57B9.2a.1VEP_consequencesplice_acceptor_variant
VEP_impactHIGH
HGVScF57B9.2a.1:c.4990-1G>A
Intron_number15/19
F57B9.2d.1VEP_consequencesplice_acceptor_variant
VEP_impactHIGH
HGVScF57B9.2d.1:c.2692-1G>A
Intron_number4/8
F57B9.2b.1VEP_consequencesplice_acceptor_variant
VEP_impactHIGH
HGVScF57B9.2b.1:c.4939-1G>A
Intron_number14/17
GeneticsInterpolated_map_positionIII-0.874766
DescriptionPhenotypeWBPhenotype:0000052Paper_evidenceWBPaper00028472
Curator_confirmedWBPerson48
PenetranceHighpenetrance at 15 deg is from 47-72Paper_evidenceWBPaper00028472
Curator_confirmedWBPerson48
Range7290Paper_evidenceWBPaper00028472
Curator_confirmedWBPerson48
RecessivePaper_evidenceWBPaper00028472
Curator_confirmedWBPerson48
Temperature_sensitiveHeat_sensitivePaper_evidenceWBPaper00028472
Curator_confirmedWBPerson48
Maternal
Phenotype_assayTemperature25Paper_evidenceWBPaper00028472
Curator_confirmedWBPerson48
ReferenceWBPaper00028472
WBPaper00018049
MethodSubstitution_allele