WormBase Tree Display for Variation: WBVar00054362
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| WBVar00054362 | Evidence | Paper_evidence | WBPaper00027171 | ||||
|---|---|---|---|---|---|---|---|
| Name | Public_name | cs80 | |||||
| Other_name (16) | |||||||
| HGVSg | CHROMOSOME_IV:g.1875918C>T | ||||||
| Sequence_details | SMap | S_parent | Sequence | F55A8 | |||
| Flanking_sequences | aaagactatggagataaggaacgtttggct | aagttgtccgagagccgccgagccctgtga | |||||
| Mapping_target | F55A8 | ||||||
| Type_of_mutation | Substitution | c | t | Paper_evidence | WBPaper00027171 | ||
| SeqStatus | Sequenced | ||||||
| Variation_type | Allele | ||||||
| Origin | Species | Caenorhabditis elegans | |||||
| Laboratory | UP | ||||||
| Status | Live | ||||||
| Affects | Gene | WBGene00001173 | |||||
| Transcript | F55A8.2g.1 | VEP_consequence | stop_gained | ||||
| VEP_impact | HIGH | ||||||
| HGVSc | F55A8.2g.1:c.436C>T | ||||||
| HGVSp | CE49110:p.Gln146Ter | ||||||
| cDNA_position | 436 | ||||||
| CDS_position | 436 | ||||||
| Protein_position | 146 | ||||||
| Exon_number | 3/5 | ||||||
| Codon_change | Caa/Taa | ||||||
| Amino_acid_change | Q/* | ||||||
| F55A8.2e.1 | VEP_consequence | stop_gained | |||||
| VEP_impact | HIGH | ||||||
| HGVSc | F55A8.2e.1:c.1213C>T | ||||||
| HGVSp | CE37241:p.Gln405Ter | ||||||
| cDNA_position | 1430 | ||||||
| CDS_position | 1213 | ||||||
| Protein_position | 405 | ||||||
| Exon_number | 9/12 | ||||||
| Codon_change | Caa/Taa | ||||||
| Amino_acid_change | Q/* | ||||||
| F55A8.2d.1 | VEP_consequence | intron_variant | |||||
| VEP_impact | MODIFIER | ||||||
| HGVSc | F55A8.2d.1:c.492+2226C>T | ||||||
| Intron_number | 3/3 | ||||||
| F55A8.2f.1 | VEP_consequence | stop_gained | |||||
| VEP_impact | HIGH | ||||||
| HGVSc | F55A8.2f.1:c.394C>T | ||||||
| HGVSp | CE37242:p.Gln132Ter | ||||||
| cDNA_position | 522 | ||||||
| CDS_position | 394 | ||||||
| Protein_position | 132 | ||||||
| Exon_number | 4/6 | ||||||
| Codon_change | Caa/Taa | ||||||
| Amino_acid_change | Q/* | ||||||
| F55A8.2b.1 | VEP_consequence | stop_gained | |||||
| VEP_impact | HIGH | ||||||
| HGVSc | F55A8.2b.1:c.1195C>T | ||||||
| HGVSp | CE19898:p.Gln399Ter | ||||||
| cDNA_position | 1195 | ||||||
| CDS_position | 1195 | ||||||
| Protein_position | 399 | ||||||
| Exon_number | 8/10 | ||||||
| Codon_change | Caa/Taa | ||||||
| Amino_acid_change | Q/* | ||||||
| F55A8.2c.1 | VEP_consequence | stop_gained | |||||
| VEP_impact | HIGH | ||||||
| HGVSc | F55A8.2c.1:c.1231C>T | ||||||
| HGVSp | CE31541:p.Gln411Ter | ||||||
| cDNA_position | 1231 | ||||||
| CDS_position | 1231 | ||||||
| Protein_position | 411 | ||||||
| Exon_number | 8/11 | ||||||
| Codon_change | Caa/Taa | ||||||
| Amino_acid_change | Q/* | ||||||
| F55A8.2h.1 | VEP_consequence | stop_gained | |||||
| VEP_impact | HIGH | ||||||
| HGVSc | F55A8.2h.1:c.1333C>T | ||||||
| HGVSp | CE48610:p.Gln445Ter | ||||||
| cDNA_position | 1333 | ||||||
| CDS_position | 1333 | ||||||
| Protein_position | 445 | ||||||
| Exon_number | 8/11 | ||||||
| Codon_change | Caa/Taa | ||||||
| Amino_acid_change | Q/* | ||||||
| F55A8.2a.2 | VEP_consequence | stop_gained | |||||
| VEP_impact | HIGH | ||||||
| HGVSc | F55A8.2a.2:c.1324C>T | ||||||
| HGVSp | CE19897:p.Gln442Ter | ||||||
| cDNA_position | 1324 | ||||||
| CDS_position | 1324 | ||||||
| Protein_position | 442 | ||||||
| Exon_number | 8/12 | ||||||
| Codon_change | Caa/Taa | ||||||
| Amino_acid_change | Q/* | ||||||
| F55A8.2a.1 | VEP_consequence | stop_gained | |||||
| VEP_impact | HIGH | ||||||
| HGVSc | F55A8.2a.1:c.1324C>T | ||||||
| HGVSp | CE19897:p.Gln442Ter | ||||||
| cDNA_position | 1324 | ||||||
| CDS_position | 1324 | ||||||
| Protein_position | 442 | ||||||
| Exon_number | 8/11 | ||||||
| Codon_change | Caa/Taa | ||||||
| Amino_acid_change | Q/* | ||||||
| Genetics | Interpolated_map_position | IV | -14.2704 | ||||
| Reference | WBPaper00027171 | ||||||
| Method | Substitution_allele |
