WormBase Tree Display for Variation: WBVar00296796
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| WBVar00296796 | Evidence | Paper_evidence | WBPaper00037625 | ||||
|---|---|---|---|---|---|---|---|
| Name | Public_name | eg1167 | |||||
| Other_name | Y23H5A.5d.3:c.430C>T | ||||||
| Y23H5A.5a.1:c.472C>T | |||||||
| CE46567:p.Arg144Ter | |||||||
| CE53904:p.Arg158Ter | |||||||
| CE46777:p.Arg144Ter | |||||||
| Y23H5A.5d.1:c.430C>T | |||||||
| Y23H5A.5c.1:c.430C>T | |||||||
| Y23H5A.5d.2:c.430C>T | |||||||
| HGVSg | CHROMOSOME_I:g.2608935C>T | ||||||
| Sequence_details | SMap | S_parent | Sequence | Y23H5A | |||
| Flanking_sequences | aactcggtggtggataaagctgtgctcgtc | gagccagcaggcagctcttgagcagtgtca | |||||
| Mapping_target | Y23H5A | ||||||
| Type_of_mutation | Substitution | c | t | Paper_evidence | WBPaper00037625 | ||
| SeqStatus | Sequenced | ||||||
| Variation_type | Allele | ||||||
| Origin | Species | Caenorhabditis elegans | |||||
| Laboratory | BZ | ||||||
| Status | Live | ||||||
| Affects | Gene | WBGene00000832 | |||||
| Transcript | Y23H5A.5d.3 | VEP_consequence | stop_gained | ||||
| VEP_impact | HIGH | ||||||
| HGVSc | Y23H5A.5d.3:c.430C>T | ||||||
| HGVSp | CE46567:p.Arg144Ter | ||||||
| cDNA_position | 459 | ||||||
| CDS_position | 430 | ||||||
| Protein_position | 144 | ||||||
| Exon_number | 5/16 | ||||||
| Codon_change | Cga/Tga | ||||||
| Amino_acid_change | R/* | ||||||
| Y23H5A.5d.2 | VEP_consequence | stop_gained | |||||
| VEP_impact | HIGH | ||||||
| HGVSc | Y23H5A.5d.2:c.430C>T | ||||||
| HGVSp | CE46567:p.Arg144Ter | ||||||
| cDNA_position | 460 | ||||||
| CDS_position | 430 | ||||||
| Protein_position | 144 | ||||||
| Exon_number | 5/15 | ||||||
| Codon_change | Cga/Tga | ||||||
| Amino_acid_change | R/* | ||||||
| Y23H5A.5c.1 | VEP_consequence | stop_gained | |||||
| VEP_impact | HIGH | ||||||
| HGVSc | Y23H5A.5c.1:c.430C>T | ||||||
| HGVSp | CE46777:p.Arg144Ter | ||||||
| cDNA_position | 459 | ||||||
| CDS_position | 430 | ||||||
| Protein_position | 144 | ||||||
| Exon_number | 5/11 | ||||||
| Codon_change | Cga/Tga | ||||||
| Amino_acid_change | R/* | ||||||
| Y23H5A.5a.1 | VEP_consequence | stop_gained | |||||
| VEP_impact | HIGH | ||||||
| HGVSc | Y23H5A.5a.1:c.472C>T | ||||||
| HGVSp | CE53904:p.Arg158Ter | ||||||
| cDNA_position | 472 | ||||||
| CDS_position | 472 | ||||||
| Protein_position | 158 | ||||||
| Exon_number | 4/16 | ||||||
| Codon_change | Cga/Tga | ||||||
| Amino_acid_change | R/* | ||||||
| Y23H5A.5d.1 | VEP_consequence | stop_gained | |||||
| VEP_impact | HIGH | ||||||
| HGVSc | Y23H5A.5d.1:c.430C>T | ||||||
| HGVSp | CE46567:p.Arg144Ter | ||||||
| cDNA_position | 461 | ||||||
| CDS_position | 430 | ||||||
| Protein_position | 144 | ||||||
| Exon_number | 5/16 | ||||||
| Codon_change | Cga/Tga | ||||||
| Amino_acid_change | R/* | ||||||
| Interactor | WBInteraction000504535 | ||||||
| Genetics | Interpolated_map_position | I | -8.19714 | ||||
| Description | Phenotype | WBPhenotype:0004017 | Paper_evidence | WBPaper00037625 | |||
| Curator_confirmed | WBPerson2876 | ||||||
| Disease_info | Models_disease | DOID:11723 | |||||
| Models_disease_in_annotation | WBDOannot00000293 | ||||||
| Reference | WBPaper00037625 | ||||||
| Method | Substitution_allele |
