WormBase Tree Display for Variation: WBVar00089140
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| WBVar00089140 | Evidence | Paper_evidence | WBPaper00031483 | ||||
|---|---|---|---|---|---|---|---|
| Name | Public_name | mn389 | |||||
| Other_name | B0024.8c.1:c.170_217-24del | ||||||
| B0024.8a.1:c.2213_2260-24del | |||||||
| B0024.8d.1:c.164_211-24del | |||||||
| B0024.8b.1:c.437_484-24del | |||||||
| HGVSg | CHROMOSOME_V:g.10301661_10301748del | ||||||
| Sequence_details | SMap | S_parent | Sequence | B0024 | |||
| Flanking_sequences | ttccatccagcatgggaaagaaaagtatca | tttcgaaagttaataattttcagatttcac | |||||
| Mapping_target | B0024 | ||||||
| Type_of_mutation | Deletion | ||||||
| SeqStatus | Sequenced | ||||||
| Variation_type | Allele | ||||||
| Origin | Species | Caenorhabditis elegans | |||||
| Strain | WBStrain00034375 | ||||||
| Laboratory | SP | ||||||
| Status | Live | ||||||
| Affects | Gene | WBGene00000491 | |||||
| Transcript | B0024.8d.1 | VEP_consequence | splice_donor_variant,coding_sequence_variant,intron_variant | ||||
| VEP_impact | HIGH | ||||||
| HGVSc | B0024.8d.1:c.164_211-24del | ||||||
| cDNA_position | 210-? | ||||||
| CDS_position | 164-? | ||||||
| Protein_position | 55-? | ||||||
| Intron_number | 3/13 | ||||||
| Exon_number | 3/14 | ||||||
| B0024.8b.1 | VEP_consequence | splice_donor_variant,coding_sequence_variant,intron_variant | |||||
| VEP_impact | HIGH | ||||||
| HGVSc | B0024.8b.1:c.437_484-24del | ||||||
| cDNA_position | 627-? | ||||||
| CDS_position | 437-? | ||||||
| Protein_position | 146-? | ||||||
| Intron_number | 5/15 | ||||||
| Exon_number | 5/16 | ||||||
| B0024.8c.1 | VEP_consequence | splice_donor_variant,coding_sequence_variant,intron_variant | |||||
| VEP_impact | HIGH | ||||||
| HGVSc | B0024.8c.1:c.170_217-24del | ||||||
| cDNA_position | 170-? | ||||||
| CDS_position | 170-? | ||||||
| Protein_position | 57-? | ||||||
| Intron_number | 3/12 | ||||||
| Exon_number | 3/13 | ||||||
| B0024.8a.1 | VEP_consequence | splice_donor_variant,coding_sequence_variant,intron_variant | |||||
| VEP_impact | HIGH | ||||||
| HGVSc | B0024.8a.1:c.2213_2260-24del | ||||||
| cDNA_position | 2242-? | ||||||
| CDS_position | 2213-? | ||||||
| Protein_position | 738-? | ||||||
| Intron_number | 14/24 | ||||||
| Exon_number | 14/25 | ||||||
| Genetics | Interpolated_map_position | V | 2.45542 | ||||
| Mapping_data | In_pos_neg_data | 8319 | |||||
| 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 |
