WormBase Tree Display for Variation: WBVar00089149
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| WBVar00089149 | Evidence | Paper_evidence | WBPaper00031483 | ||||
|---|---|---|---|---|---|---|---|
| Name | Public_name | mn399 | |||||
| Other_name | B0024.8c.1:c.121+248_231del | ||||||
| B0024.8a.1:c.2164+248_2274del | |||||||
| B0024.8b.1:c.388+248_498del | |||||||
| HGVSg | CHROMOSOME_V:g.10301623_10302471del | ||||||
| Sequence_details | SMap | S_parent | Sequence | B0024 | |||
| Flanking_sequences | agaggacttgaaaaaaagaaaaataaaaga | aaaagaatcaacaataatggtacttttcta | |||||
| Mapping_target | B0024 | ||||||
| Type_of_mutation | Deletion | ||||||
| SeqStatus | Sequenced | ||||||
| Variation_type | Allele | ||||||
| Origin | Species | Caenorhabditis elegans | |||||
| Strain | WBStrain00034365 | ||||||
| Laboratory | SP | ||||||
| Status | Live | ||||||
| Affects | Gene | WBGene00000491 | |||||
| Transcript | B0024.8d.1 | VEP_consequence | splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,5_prime_UTR_variant,intron_variant | ||||
| VEP_impact | HIGH | ||||||
| cDNA_position | ?-271 | ||||||
| CDS_position | ?-225 | ||||||
| Protein_position | ?-75 | ||||||
| Intron_number | 2-3/13 | ||||||
| Exon_number | 1-4/14 | ||||||
| B0024.8b.1 | VEP_consequence | splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant | |||||
| VEP_impact | HIGH | ||||||
| HGVSc | B0024.8b.1:c.388+248_498del | ||||||
| cDNA_position | ?-688 | ||||||
| CDS_position | ?-498 | ||||||
| Protein_position | ?-166 | ||||||
| Intron_number | 4-5/15 | ||||||
| Exon_number | 5-6/16 | ||||||
| B0024.8c.1 | VEP_consequence | splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant | |||||
| VEP_impact | HIGH | ||||||
| HGVSc | B0024.8c.1:c.121+248_231del | ||||||
| cDNA_position | ?-231 | ||||||
| CDS_position | ?-231 | ||||||
| Protein_position | ?-77 | ||||||
| Intron_number | 2-3/12 | ||||||
| Exon_number | 3-4/13 | ||||||
| B0024.8a.1 | VEP_consequence | splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant | |||||
| VEP_impact | HIGH | ||||||
| HGVSc | B0024.8a.1:c.2164+248_2274del | ||||||
| cDNA_position | ?-2303 | ||||||
| CDS_position | ?-2274 | ||||||
| Protein_position | ?-758 | ||||||
| Intron_number | 13-14/24 | ||||||
| Exon_number | 14-15/25 | ||||||
| Genetics | Interpolated_map_position | V | 2.45546 | ||||
| Description | Phenotype | WBPhenotype:0002535 | Paper_evidence | WBPaper00002087 | |||
| Curator_confirmed | WBPerson48 | ||||||
| Remark | Defects in dye filling. | Paper_evidence | WBPaper00002087 | ||||
| Curator_confirmed | WBPerson48 | ||||||
| Recessive | Paper_evidence | WBPaper00002087 | |||||
| Curator_confirmed | WBPerson48 | ||||||
| Reference | WBPaper00002087 | ||||||
| Method | Deletion_allele |
