WormBase Tree Display for Variation: WBVar00054327
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| WBVar00054327 | Evidence | Paper_evidence | WBPaper00005344 | ||||
|---|---|---|---|---|---|---|---|
| Name | Public_name | cs47 | |||||
| Other_name | CE50467:p.Trp226Ter | ||||||
| CE31446:p.Trp810Ter | |||||||
| C44H4.7b.1:c.2430G>A | |||||||
| CE31445:p.Trp825Ter | |||||||
| CE50508:p.Trp812Ter | |||||||
| C44H4.7c.1:c.2436G>A | |||||||
| C44H4.7a.1:c.2475G>A | |||||||
| C44H4.7d.1:c.678G>A | |||||||
| HGVSg | CHROMOSOME_X:g.14607955G>A | ||||||
| Sequence_details | SMap | S_parent | Sequence | F54E4 | |||
| Flanking_sequences | catacctgtcgagccgaaacacaatcgatg | attgcgaaatacactagattggccatatca | |||||
| Mapping_target | F54E4 | ||||||
| Type_of_mutation | Substitution | g | a | Paper_evidence | WBPaper00005344 | ||
| Person_evidence | WBPerson637 | ||||||
| SeqStatus | Sequenced | ||||||
| Variation_type | Allele | ||||||
| Origin | Species | Caenorhabditis elegans | |||||
| Laboratory | UP | ||||||
| Status | Live | ||||||
| Affects | Gene | WBGene00001325 | |||||
| Transcript | C44H4.7c.1 | VEP_consequence | stop_gained | ||||
| VEP_impact | HIGH | ||||||
| HGVSc | C44H4.7c.1:c.2436G>A | ||||||
| HGVSp | CE50508:p.Trp812Ter | ||||||
| cDNA_position | 2475 | ||||||
| CDS_position | 2436 | ||||||
| Protein_position | 812 | ||||||
| Exon_number | 15/18 | ||||||
| Codon_change | tgG/tgA | ||||||
| Amino_acid_change | W/* | ||||||
| C44H4.7b.1 | VEP_consequence | stop_gained | |||||
| VEP_impact | HIGH | ||||||
| HGVSc | C44H4.7b.1:c.2430G>A | ||||||
| HGVSp | CE31446:p.Trp810Ter | ||||||
| cDNA_position | 2505 | ||||||
| CDS_position | 2430 | ||||||
| Protein_position | 810 | ||||||
| Exon_number | 15/18 | ||||||
| Codon_change | tgG/tgA | ||||||
| Amino_acid_change | W/* | ||||||
| C44H4.7a.1 | VEP_consequence | stop_gained | |||||
| VEP_impact | HIGH | ||||||
| HGVSc | C44H4.7a.1:c.2475G>A | ||||||
| HGVSp | CE31445:p.Trp825Ter | ||||||
| cDNA_position | 2502 | ||||||
| CDS_position | 2475 | ||||||
| Protein_position | 825 | ||||||
| Exon_number | 16/19 | ||||||
| Codon_change | tgG/tgA | ||||||
| Amino_acid_change | W/* | ||||||
| C44H4.7d.1 | VEP_consequence | stop_gained | |||||
| VEP_impact | HIGH | ||||||
| HGVSc | C44H4.7d.1:c.678G>A | ||||||
| HGVSp | CE50467:p.Trp226Ter | ||||||
| cDNA_position | 678 | ||||||
| CDS_position | 678 | ||||||
| Protein_position | 226 | ||||||
| Exon_number | 5/7 | ||||||
| Codon_change | tgG/tgA | ||||||
| Amino_acid_change | W/* | ||||||
| Genetics | Interpolated_map_position | X | 18.6952 | ||||
| Reference | WBPaper00005344 | ||||||
| Method | Substitution_allele |
