WormBase Tree Display for Variation: WBVar00089298
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WBVar00089298 | Evidence | Paper_evidence | WBPaper00000502 | ||||
---|---|---|---|---|---|---|---|
Name | Public_name | n174 | |||||
Other_name (13) | |||||||
HGVSg | CHROMOSOME_V:g.6965447G>A | ||||||
Sequence_details | SMap | S_parent | Sequence | T07H8 | |||
Flanking_sequences | gggttcttgtaatcagcttcgctatgtttg | ttctacaatttgacccgtggaacctgcgat | |||||
Mapping_target | T07H8 | ||||||
Type_of_mutation | Substitution | g | a | Paper_evidence | WBPaper00024622 | ||
SeqStatus | Sequenced | ||||||
Variation_type | Allele | ||||||
Origin | Species | Caenorhabditis elegans | |||||
Laboratory | MT | ||||||
Status | Live | ||||||
Affects | Gene | WBGene00003165 | |||||
Transcript | T07H8.4e.1 | VEP_consequence | stop_gained | ||||
VEP_impact | HIGH | ||||||
HGVSc | T07H8.4e.1:c.5109G>A | ||||||
HGVSp | CE37672:p.Trp1703Ter | ||||||
cDNA_position | 5109 | ||||||
CDS_position | 5109 | ||||||
Protein_position | 1703 | ||||||
Exon_number | 25/28 | ||||||
Codon_change | tgG/tgA | ||||||
Amino_acid_change | W/* | ||||||
T07H8.4g.1 | VEP_consequence | stop_gained | |||||
VEP_impact | HIGH | ||||||
HGVSc | T07H8.4g.1:c.4059G>A | ||||||
HGVSp | CE37674:p.Trp1353Ter | ||||||
cDNA_position | 4059 | ||||||
CDS_position | 4059 | ||||||
Protein_position | 1353 | ||||||
Exon_number | 19/22 | ||||||
Codon_change | tgG/tgA | ||||||
Amino_acid_change | W/* | ||||||
T07H8.4f.1 | VEP_consequence | stop_gained | |||||
VEP_impact | HIGH | ||||||
HGVSc | T07H8.4f.1:c.4701G>A | ||||||
HGVSp | CE37673:p.Trp1567Ter | ||||||
cDNA_position | 5189 | ||||||
CDS_position | 4701 | ||||||
Protein_position | 1567 | ||||||
Exon_number | 27/30 | ||||||
Codon_change | tgG/tgA | ||||||
Amino_acid_change | W/* | ||||||
T07H8.4d.1 | VEP_consequence | stop_gained | |||||
VEP_impact | HIGH | ||||||
HGVSc | T07H8.4d.1:c.5232G>A | ||||||
HGVSp | CE47967:p.Trp1744Ter | ||||||
cDNA_position | 5285 | ||||||
CDS_position | 5232 | ||||||
Protein_position | 1744 | ||||||
Exon_number | 28/32 | ||||||
Codon_change | tgG/tgA | ||||||
Amino_acid_change | W/* | ||||||
T07H8.4a.1 | VEP_consequence | stop_gained | |||||
VEP_impact | HIGH | ||||||
HGVSc | T07H8.4a.1:c.5268G>A | ||||||
HGVSp | CE48078:p.Trp1756Ter | ||||||
cDNA_position | 5321 | ||||||
CDS_position | 5268 | ||||||
Protein_position | 1756 | ||||||
Exon_number | 28/32 | ||||||
Codon_change | tgG/tgA | ||||||
Amino_acid_change | W/* | ||||||
T07H8.4h.1 | VEP_consequence | stop_gained | |||||
VEP_impact | HIGH | ||||||
HGVSc | T07H8.4h.1:c.5265G>A | ||||||
HGVSp | CE48065:p.Trp1755Ter | ||||||
cDNA_position | 5265 | ||||||
CDS_position | 5265 | ||||||
Protein_position | 1755 | ||||||
Exon_number | 27/30 | ||||||
Codon_change | tgG/tgA | ||||||
Amino_acid_change | W/* | ||||||
T07H8.4d.2 | VEP_consequence | stop_gained | |||||
VEP_impact | HIGH | ||||||
HGVSc | T07H8.4d.2:c.5232G>A | ||||||
HGVSp | CE47967:p.Trp1744Ter | ||||||
cDNA_position | 5233 | ||||||
CDS_position | 5232 | ||||||
Protein_position | 1744 | ||||||
Exon_number | 28/31 | ||||||
Codon_change | tgG/tgA | ||||||
Amino_acid_change | W/* | ||||||
Genetics | Interpolated_map_position | V | 0.48312 | ||||
Description | Phenotype | WBPhenotype:0000456 | Paper_evidence | WBPaper00000502 | |||
Curator_confirmed | WBPerson712 | ||||||
Recessive | Paper_evidence | WBPaper00000502 | |||||
Curator_confirmed | WBPerson712 | ||||||
WBPhenotype:0001310 | Paper_evidence | WBPaper00000502 | |||||
Curator_confirmed | WBPerson712 | ||||||
Remark | Cell bodies of anterior touch neurons as well as some amphidial neuronal processes are displaced dorsally. | Paper_evidence | WBPaper00000502 | ||||
Curator_confirmed | WBPerson712 | ||||||
Recessive | Paper_evidence | WBPaper00000502 | |||||
Curator_confirmed | WBPerson712 | ||||||
WBPhenotype:0001534 | Paper_evidence | WBPaper00000502 | |||||
Curator_confirmed | WBPerson712 | ||||||
Remark | ECM is missing in VC. | Paper_evidence | WBPaper00000502 | ||||
Curator_confirmed | WBPerson712 | ||||||
Recessive | Paper_evidence | WBPaper00000502 | |||||
Curator_confirmed | WBPerson712 | ||||||
Reference | WBPaper00000502 | ||||||
Method | Substitution_allele |