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WormBase Tree Display for Variation: WBVar00089298

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Name Class

WBVar00089298EvidencePaper_evidenceWBPaper00000502
NamePublic_namen174
Other_name (13)
HGVSgCHROMOSOME_V:g.6965447G>A
Sequence_detailsSMapS_parentSequenceT07H8
Flanking_sequencesgggttcttgtaatcagcttcgctatgtttgttctacaatttgacccgtggaacctgcgat
Mapping_targetT07H8
Type_of_mutationSubstitutiongaPaper_evidenceWBPaper00024622
SeqStatusSequenced
Variation_typeAllele
OriginSpeciesCaenorhabditis elegans
LaboratoryMT
StatusLive
AffectsGeneWBGene00003165
TranscriptT07H8.4e.1VEP_consequencestop_gained
VEP_impactHIGH
HGVScT07H8.4e.1:c.5109G>A
HGVSpCE37672:p.Trp1703Ter
cDNA_position5109
CDS_position5109
Protein_position1703
Exon_number25/28
Codon_changetgG/tgA
Amino_acid_changeW/*
T07H8.4g.1VEP_consequencestop_gained
VEP_impactHIGH
HGVScT07H8.4g.1:c.4059G>A
HGVSpCE37674:p.Trp1353Ter
cDNA_position4059
CDS_position4059
Protein_position1353
Exon_number19/22
Codon_changetgG/tgA
Amino_acid_changeW/*
T07H8.4f.1VEP_consequencestop_gained
VEP_impactHIGH
HGVScT07H8.4f.1:c.4701G>A
HGVSpCE37673:p.Trp1567Ter
cDNA_position5189
CDS_position4701
Protein_position1567
Exon_number27/30
Codon_changetgG/tgA
Amino_acid_changeW/*
T07H8.4d.1VEP_consequencestop_gained
VEP_impactHIGH
HGVScT07H8.4d.1:c.5232G>A
HGVSpCE47967:p.Trp1744Ter
cDNA_position5285
CDS_position5232
Protein_position1744
Exon_number28/32
Codon_changetgG/tgA
Amino_acid_changeW/*
T07H8.4a.1VEP_consequencestop_gained
VEP_impactHIGH
HGVScT07H8.4a.1:c.5268G>A
HGVSpCE48078:p.Trp1756Ter
cDNA_position5321
CDS_position5268
Protein_position1756
Exon_number28/32
Codon_changetgG/tgA
Amino_acid_changeW/*
T07H8.4h.1VEP_consequencestop_gained
VEP_impactHIGH
HGVScT07H8.4h.1:c.5265G>A
HGVSpCE48065:p.Trp1755Ter
cDNA_position5265
CDS_position5265
Protein_position1755
Exon_number27/30
Codon_changetgG/tgA
Amino_acid_changeW/*
T07H8.4d.2VEP_consequencestop_gained
VEP_impactHIGH
HGVScT07H8.4d.2:c.5232G>A
HGVSpCE47967:p.Trp1744Ter
cDNA_position5233
CDS_position5232
Protein_position1744
Exon_number28/31
Codon_changetgG/tgA
Amino_acid_changeW/*
GeneticsInterpolated_map_positionV0.48312
DescriptionPhenotypeWBPhenotype:0000456Paper_evidenceWBPaper00000502
Curator_confirmedWBPerson712
RecessivePaper_evidenceWBPaper00000502
Curator_confirmedWBPerson712
WBPhenotype:0001310Paper_evidenceWBPaper00000502
Curator_confirmedWBPerson712
RemarkCell bodies of anterior touch neurons as well as some amphidial neuronal processes are displaced dorsally.Paper_evidenceWBPaper00000502
Curator_confirmedWBPerson712
RecessivePaper_evidenceWBPaper00000502
Curator_confirmedWBPerson712
WBPhenotype:0001534Paper_evidenceWBPaper00000502
Curator_confirmedWBPerson712
RemarkECM is missing in VC.Paper_evidenceWBPaper00000502
Curator_confirmedWBPerson712
RecessivePaper_evidenceWBPaper00000502
Curator_confirmedWBPerson712
ReferenceWBPaper00000502
MethodSubstitution_allele