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WormBase Tree Display for Variation: WBVar00143471

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Name Class

WBVar00143471EvidencePerson_evidenceWBPerson10095
NamePublic_namee769
Other_nameC09G5.2a.1:c.797+349C>T
C09G5.6.1:c.2647+1G>A
HGVSgCHROMOSOME_II:g.10711801G>A
Sequence_detailsSMapS_parentSequenceC09G5
Flanking_sequencesattcgagagagcatggaggacaagttccagtagaattgttatgcggaaattatcattaaa
Mapping_targetC09G5
Type_of_mutationSubstitutionga
SeqStatusSequenced
Variation_typeAllele
OriginSpeciesCaenorhabditis elegans
StrainWBStrain00000064
WBStrain00004206
WBStrain00004522
WBStrain00027610
WBStrain00052605
LaboratoryCB
StatusLive
AffectsGeneWBGene00000251
WBGene00007488
TranscriptC09G5.2a.1VEP_consequenceintron_variant
VEP_impactMODIFIER
HGVScC09G5.2a.1:c.797+349C>T
Intron_number6/10
C09G5.6.1VEP_consequencesplice_donor_variant
VEP_impactHIGH
HGVScC09G5.6.1:c.2647+1G>A
Intron_number5/6
InteractorWBInteraction000537315
GeneticsInterpolated_map_positionII3.12418
Mapping_dataIn_multi_point3519
In_pos_neg_data1219
1222
1248
1289
1344
1405
1421
DescriptionPhenotypeWBPhenotype:0000025Paper_evidenceWBPaper00000031
WBPaper00005747
Person_evidenceWBPerson261
Curator_confirmedWBPerson48
WBPerson712
WBPerson2987
Remarkadult symmetrically blistered, especially head; enhanced 25C. Easy to score (ES3) in older adults.Person_evidenceWBPerson261
Curator_confirmedWBPerson712
temperature sensitive (Table 1)Paper_evidenceWBPaper00005747
Curator_confirmedWBPerson2987
Temperature_sensitiveHeat_sensitive25Person_evidenceWBPerson261
Curator_confirmedWBPerson712
Phenotype_assayGenotypekaIs12 [col-19::gfp]Paper_evidenceWBPaper00005747
Curator_confirmedWBPerson2987
Ease_of_scoringES3_Easy_to_scorePerson_evidenceWBPerson261
Curator_confirmedWBPerson712
WBPhenotype:0000070Paper_evidenceWBPaper00005747
Curator_confirmedWBPerson2987
RemarkTable 1Paper_evidenceWBPaper00005747
Curator_confirmedWBPerson2987
Phenotype_assayGenotypekaIs12 [col-19::gfp]Paper_evidenceWBPaper00005747
Curator_confirmedWBPerson2987
WBPhenotype:0000961Paper_evidenceWBPaper00005747
Curator_confirmedWBPerson2987
RemarkTable 1Paper_evidenceWBPaper00005747
Curator_confirmedWBPerson2987
Phenotype_assayGenotypekaIs12 [col-19::gfp]Paper_evidenceWBPaper00005747
Curator_confirmedWBPerson2987
WBPhenotype:0001517Paper_evidenceWBPaper00005747
Curator_confirmedWBPerson2987
RemarkAuthors report "abnormal branched annuli (lateral hypodermis)" (Table 1)Paper_evidenceWBPaper00005747
Curator_confirmedWBPerson2987
Phenotype_assayGenotypekaIs12 [col-19::gfp]Paper_evidenceWBPaper00005747
Curator_confirmedWBPerson2987
Phenotype_not_observedWBPhenotype:0001412Paper_evidenceWBPaper00005747
Curator_confirmedWBPerson2987
RemarkTable 1Paper_evidenceWBPaper00005747
Curator_confirmedWBPerson2987
Phenotype_assayGenotypekaIs12 [col-19::gfp]Paper_evidenceWBPaper00005747
Curator_confirmedWBPerson2987
ReferenceWBPaper00000031
WBPaper00005747
WBPaper00015964
WBPaper00061945
Remarkalt_det = g to a mut_det = gt -> atPerson_evidenceWBPerson10095
Curator_confirmedWBPerson51134
Variation information submitted by WBPerson10095 on 2022-02-17_11:55:46 via the Allele submission form.Curator_confirmedWBPerson51134
MethodSubstitution_allele