WormBase Tree Display for Variation: WBVar00087843
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| WBVar00087843 | Evidence | Paper_evidence | WBPaper00031430 | ||
|---|---|---|---|---|---|
| Name | Public_name | hd31 | |||
| Other_name | CE31651:p.Leu1080_Lys1162del | ||||
| Y54G2A.25a.1:c.3238_3486del | |||||
| HGVSg | CHROMOSOME_IV:g.2965250_2965498del | ||||
| Sequence_details | SMap | S_parent | Sequence | Y54G2A | |
| Flanking_sequences | gttcccaaattaaccaaaagcttttcagac | gttagcagggttttcggtgtcaagtactaa | |||
| Mapping_target | Y54G2A | ||||
| Type_of_mutation | Deletion | ||||
| SeqStatus | Sequenced | ||||
| Variation_type | Allele | ||||
| Origin | Species | Caenorhabditis elegans | |||
| Strain | WBStrain00024193 | ||||
| Laboratory | VH | ||||
| Status | Live | ||||
| Affects | Gene | WBGene00002243 | |||
| Transcript | Y54G2A.25a.1 | VEP_consequence | inframe_deletion,splice_region_variant | ||
| VEP_impact | MODERATE | ||||
| HGVSc | Y54G2A.25a.1:c.3238_3486del | ||||
| HGVSp | CE31651:p.Leu1080_Lys1162del | ||||
| cDNA_position | 3324-3572 | ||||
| CDS_position | 3238-3486 | ||||
| Protein_position | 1080-1162 | ||||
| Exon_number | 22/24 | ||||
| Codon_change | CTAAAAGAAGACCAGAAATATTTTATGCAAGGAATTGCAAAAGACGGGCCAAGAAGAAGTGAATCCGTATTCCTCCCGATTAAAACTTTAAATCGAGATTATGCAAATCGATTAAAAGAGGACTCTCTGAGAAGTGCCGCCTGGTTTATTGCAGTTCTTGGCGTTCTTGGCATTGGTCTATTCACAATTTGTCTCACTTTTTGCTGTGGAAACAAGAATCGACAGGAGAAATTTGCAGTCCGGAGGAAG/- | ||||
| Amino_acid_change | LKEDQKYFMQGIAKDGPRRSESVFLPIKTLNRDYANRLKEDSLRSAAWFIAVLGVLGIGLFTICLTFCCGNKNRQEKFAVRRK/- | ||||
| Genetics | Interpolated_map_position | IV | -6.67443 | ||
| Disease_info | Models_disease | DOID:0060246 | |||
| Models_disease_in_annotation | WBDOannot00000054 | ||||
| Reference | WBPaper00031430 | ||||
| Remark | hd31 is a deletion of 702bp. The exact location of the deletion is not specified but will extend further 5' and 3' of those indicated by the flanking sequences. | Paper_evidence | WBPaper00031430 | ||
| Method | Deletion_allele |
