WormBase Tree Display for Variation: WBVar00088843
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| WBVar00088843 | Evidence | Paper_evidence | WBPaper00006029 | ||||
|---|---|---|---|---|---|---|---|
| Name | Public_name | md1344 | |||||
| Other_name | C17D12.2d.1:c.974-765_988del | ||||||
| C17D12.2c.1:c.1123+27_1138del | |||||||
| C17D12.2b.1:c.1268-765_1282del | |||||||
| C17D12.2a.1:c.1417+27_1432del | |||||||
| HGVSg | CHROMOSOME_I:g.11600431_11601210del | ||||||
| Sequence_details | SMap | S_parent | Sequence | C17D12 | |||
| Flanking_sequences | ttcggttcgtgttttttattgatatttttt | acaacatccattcgtcacaagctgctatca | |||||
| Mapping_target | C17D12 | ||||||
| Type_of_mutation | Deletion | ||||||
| SeqStatus | Sequenced | ||||||
| Variation_type | Allele | ||||||
| Origin | Species | Caenorhabditis elegans | |||||
| Strain | WBStrain00033388 | ||||||
| Laboratory | RM | ||||||
| Status | Live | ||||||
| Affects | Gene | WBGene00006807 | |||||
| Transcript | C17D12.2c.1 | VEP_consequence | splice_acceptor_variant,coding_sequence_variant,intron_variant | ||||
| VEP_impact | HIGH | ||||||
| HGVSc | C17D12.2c.1:c.1123+27_1138del | ||||||
| cDNA_position | ?-1138 | ||||||
| CDS_position | ?-1138 | ||||||
| Protein_position | ?-380 | ||||||
| Intron_number | 5/5 | ||||||
| Exon_number | 6/6 | ||||||
| C17D12.2b.1 | VEP_consequence | splice_acceptor_variant,coding_sequence_variant,intron_variant | |||||
| VEP_impact | HIGH | ||||||
| HGVSc | C17D12.2b.1:c.1268-765_1282del | ||||||
| cDNA_position | ?-1282 | ||||||
| CDS_position | ?-1282 | ||||||
| Protein_position | ?-428 | ||||||
| Intron_number | 7/7 | ||||||
| Exon_number | 8/8 | ||||||
| C17D12.2a.1 | VEP_consequence | splice_acceptor_variant,coding_sequence_variant,intron_variant | |||||
| VEP_impact | HIGH | ||||||
| HGVSc | C17D12.2a.1:c.1417+27_1432del | ||||||
| cDNA_position | ?-1488 | ||||||
| CDS_position | ?-1432 | ||||||
| Protein_position | ?-478 | ||||||
| Intron_number | 9/10 | ||||||
| Exon_number | 10/11 | ||||||
| C17D12.2d.1 | VEP_consequence | splice_acceptor_variant,coding_sequence_variant,intron_variant | |||||
| VEP_impact | HIGH | ||||||
| HGVSc | C17D12.2d.1:c.974-765_988del | ||||||
| cDNA_position | ?-988 | ||||||
| CDS_position | ?-988 | ||||||
| Protein_position | ?-330 | ||||||
| Intron_number | 4/4 | ||||||
| Exon_number | 5/5 | ||||||
| Genetics | Interpolated_map_position | I | 9.29074 | ||||
| Description | Phenotype | WBPhenotype:0000643 | Paper_evidence | WBPaper00006029 | |||
| Curator_confirmed | WBPerson712 | ||||||
| Remark | All 12 available unc-75 alleles appear phenotypically indistinguishable. | Paper_evidence | WBPaper00006029 | ||||
| Curator_confirmed | WBPerson712 | ||||||
| Variation_effect | Null | Paper_evidence | WBPaper00006029 | ||||
| Curator_confirmed | WBPerson712 | ||||||
| Reference | WBPaper00006029 | ||||||
| Method | Deletion_allele |
