WormBase Tree Display for Variation: WBVar00143753
expand all nodes | collapse all nodes | view schema
| WBVar00143753 | Evidence | Paper_evidence | WBPaper00003844 | ||
|---|---|---|---|---|---|
| Name | Public_name | e1112 | |||
| Other_name | B0432.5b.1:c.631C>T | ||||
| CE37742:p.Gln211Ter | |||||
| B0432.5c.1:c.826C>T | |||||
| B0432.5a.1:c.841C>T | |||||
| Y43H11AL.3a.2:c.-13+3945G>A | |||||
| CE45548:p.Gln276Ter | |||||
| CE29946:p.Gln281Ter | |||||
| HGVSg | CHROMOSOME_II:g.259619C>T | ||||
| Sequence_details | SMap | S_parent | Sequence | B0432 | |
| Flanking_sequences | gcggtatatcggcaaaatttgaaaattctc | aagaggagaaggttttgacagcggatagga | |||
| Mapping_target | B0432 | ||||
| Type_of_mutation | Substitution | c | t | ||
| SeqStatus | Sequenced | ||||
| Variation_type | Allele | ||||
| Origin | Species | Caenorhabditis elegans | |||
| Strain | WBStrain00004246 | ||||
| WBStrain00034688 | |||||
| WBStrain00055863 | |||||
| WBStrain00055864 | |||||
| WBStrain00055865 | |||||
| Laboratory | CB | ||||
| IV | |||||
| Status | Live | ||||
| Affects | Gene | WBGene00004166 | |||
| WBGene00000296 | |||||
| Transcript | Y43H11AL.3a.2 | VEP_consequence | intron_variant | ||
| VEP_impact | MODIFIER | ||||
| HGVSc | Y43H11AL.3a.2:c.-13+3945G>A | ||||
| Intron_number | 1/28 | ||||
| B0432.5c.1 | VEP_consequence | stop_gained | |||
| VEP_impact | HIGH | ||||
| HGVSc | B0432.5c.1:c.826C>T | ||||
| HGVSp | CE45548:p.Gln276Ter | ||||
| cDNA_position | 910 | ||||
| CDS_position | 826 | ||||
| Protein_position | 276 | ||||
| Exon_number | 5/9 | ||||
| Codon_change | Caa/Taa | ||||
| Amino_acid_change | Q/* | ||||
| B0432.5a.1 | VEP_consequence | stop_gained | |||
| VEP_impact | HIGH | ||||
| HGVSc | B0432.5a.1:c.841C>T | ||||
| HGVSp | CE29946:p.Gln281Ter | ||||
| cDNA_position | 841 | ||||
| CDS_position | 841 | ||||
| Protein_position | 281 | ||||
| Exon_number | 4/9 | ||||
| Codon_change | Caa/Taa | ||||
| Amino_acid_change | Q/* | ||||
| B0432.5b.1 | VEP_consequence | stop_gained | |||
| VEP_impact | HIGH | ||||
| HGVSc | B0432.5b.1:c.631C>T | ||||
| HGVSp | CE37742:p.Gln211Ter | ||||
| cDNA_position | 1547 | ||||
| CDS_position | 631 | ||||
| Protein_position | 211 | ||||
| Exon_number | 4/9 | ||||
| Codon_change | Caa/Taa | ||||
| Amino_acid_change | Q/* | ||||
| Genetics | Interpolated_map_position | II | -15.661 | ||
| Mapping_data | In_2_point | 34 | |||
| 797 | |||||
| In_multi_point | 45 | ||||
| 273 | |||||
| Description | Phenotype (35) | ||||
| Phenotype_not_observed (17) | |||||
| Disease_info | Models_disease | DOID:670 | |||
| DOID:809 | |||||
| DOID:14330 | |||||
| DOID:0050742 | |||||
| Models_disease_in_annotation | WBDOannot00000689 | ||||
| WBDOannot00000690 | |||||
| WBDOannot00000691 | |||||
| WBDOannot00000969 | |||||
| Reference (35) | |||||
| Method | Substitution_allele |
