WormBase Tree Display for Variation: WBVar00143753
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| 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 (2) | |||||
| Reference | WBPaper00038270 | ||||
| WBPaper00038382 | |||||
| WBPaper00040570 | |||||
| WBPaper00041213 | |||||
| WBPaper00043908 | |||||
| WBPaper00031936 | |||||
| WBPaper00006375 | |||||
| WBPaper00035198 | |||||
| WBPaper00029060 | |||||
| WBPaper00035327 | |||||
| WBPaper00011065 | |||||
| WBPaper00032335 | |||||
| WBPaper00013858 | |||||
| WBPaper00028963 | |||||
| WBPaper00036343 | |||||
| WBPaper00000365 | |||||
| WBPaper00011911 | |||||
| WBPaper00001861 | |||||
| WBPaper00015660 | |||||
| WBPaper00036154 | |||||
| WBPaper00024107 | |||||
| WBPaper00015499 | |||||
| WBPaper00018971 | |||||
| WBPaper00042154 | |||||
| WBPaper00044757 | |||||
| WBPaper00045365 | |||||
| WBPaper00045567 | |||||
| WBPaper00049285 | |||||
| WBPaper00041132 | |||||
| WBPaper00059778 | |||||
| WBPaper00064979 | |||||
| WBPaper00065340 | |||||
| WBPaper00065310 | |||||
| WBPaper00065802 | |||||
| WBPaper00065715 | |||||
| Method | Substitution_allele |
