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WormBase Tree Display for Variation: WBVar00094783

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Name Class

WBVar00094783EvidencePaper_evidenceWBPaper00005236
Person_evidenceWBPerson1705
NamePublic_nameot19
Other_nameY34B4A.8f.1:c.10+603G>A
Y34B4A.8a.1:c.-6+603G>A
CE32011:p.His85Tyr
Y34B4A.8c.1:c.139+603G>A
Y34B4A.8b.2:c.-631G>A
Y34B4A.8e.1:c.139+603G>A
Y34B4A.8g.1:c.10+603G>A
Y34B4A.3.1:c.253C>T
Y34B4A.8b.3:c.-6+603G>A
HGVSgCHROMOSOME_X:g.5275913C>T
Sequence_detailsSMapS_parentSequenceY34B4A
Flanking_sequencesaaaacctccaacgatgtcatcgtctttgtgacatacaaaaaacggcgggcacaacattcg
Mapping_targetY34B4A
Type_of_mutationSubstitutionct
SeqStatusSequenced
Variation_typeAllele
OriginSpeciesCaenorhabditis elegans
StrainWBStrain00029330
LaboratoryOH
StatusLive
AffectsGeneWBGene00002031
WBGene00021324
TranscriptY34B4A.8g.1VEP_consequenceintron_variant
VEP_impactMODIFIER
HGVScY34B4A.8g.1:c.10+603G>A
Intron_number1/13
Y34B4A.8c.1VEP_consequenceintron_variant
VEP_impactMODIFIER
HGVScY34B4A.8c.1:c.139+603G>A
Intron_number3/16
Y34B4A.8e.1VEP_consequenceintron_variant
VEP_impactMODIFIER
HGVScY34B4A.8e.1:c.139+603G>A
Intron_number3/15
Y34B4A.3.1 (12)
Y34B4A.8b.2VEP_consequence5_prime_UTR_variant
VEP_impactMODIFIER
HGVScY34B4A.8b.2:c.-631G>A
cDNA_position1018
Exon_number2/16
Y34B4A.8a.1VEP_consequenceintron_variant
VEP_impactMODIFIER
HGVScY34B4A.8a.1:c.-6+603G>A
Intron_number2/16
Y34B4A.8f.1VEP_consequenceintron_variant
VEP_impactMODIFIER
HGVScY34B4A.8f.1:c.10+603G>A
Intron_number1/13
Y34B4A.8b.3VEP_consequenceintron_variant
VEP_impactMODIFIER
HGVScY34B4A.8b.3:c.-6+603G>A
Intron_number1/15
InteractorWBInteraction000052329
IsolationMutagenEMS
GeneticsInterpolated_map_positionX-5.87472
DescriptionPhenotypeWBPhenotype:0000180Paper_evidenceWBPaper00005236
Person_evidenceWBPerson1705
Curator_confirmedWBPerson48
PenetranceIncompletePaper_evidenceWBPaper00005236
Person_evidenceWBPerson1705
Curator_confirmedWBPerson48
RecessivePaper_evidenceWBPaper00005236
Person_evidenceWBPerson1705
Curator_confirmedWBPerson48
Variation_effectLoss_of_function_undetermined_extentPaper_evidenceWBPaper00005236
Person_evidenceWBPerson1705
Curator_confirmedWBPerson48
WBPhenotype:0000384Paper_evidenceWBPaper00006471
Curator_confirmedWBPerson2021
RemarkAxonal patterning defectsPaper_evidenceWBPaper00006471
Curator_confirmedWBPerson2021
Variation_effectProbable_null_via_phenotypePaper_evidenceWBPaper00006471
Curator_confirmedWBPerson2021
Phenotype_not_observedWBPhenotype:0000062Paper_evidenceWBPaper00005236
WBPaper00006471
Person_evidenceWBPerson1705
Curator_confirmedWBPerson48
WBPerson2021
RemarkNon-lethalPaper_evidenceWBPaper00006471
Curator_confirmedWBPerson2021
Variation_effectProbable_null_via_phenotypePaper_evidenceWBPaper00006471
Curator_confirmedWBPerson2021
WBPhenotype:0000688Paper_evidenceWBPaper00005236
WBPaper00006471
Person_evidenceWBPerson1705
Curator_confirmedWBPerson48
WBPerson2021
RemarkNon-sterilePaper_evidenceWBPaper00006471
Curator_confirmedWBPerson2021
Variation_effectProbable_null_via_phenotypePaper_evidenceWBPaper00006471
Curator_confirmedWBPerson2021
ReferenceWBPaper00005236
WBPaper00006471
RemarkChanges an absolutely conserved H to Y in the cofactor binding sitePerson_evidenceWBPerson1705
MethodSubstitution_allele