WormBase Tree Display for Variation: WBVar00242057
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| WBVar00242057 | Evidence | Paper_evidence | WBPaper00004214 | ||||
|---|---|---|---|---|---|---|---|
| Name | Public_name | s1451 | |||||
| Other_name (12) | |||||||
| HGVSg | CHROMOSOME_V:g.7976834_7976837delinsTATC | ||||||
| Sequence_details | SMap | S_parent | Sequence | F26D11 | |||
| Flanking_sequences | ttctccgaacaattcctctgtcgattgtgg | gagaaaacttgaagagctcgatcttggaca | |||||
| Mapping_target | F26D11 | ||||||
| Type_of_mutation | Substitution | aatt | gata | Paper_evidence | WBPaper00004214 | ||
| SeqStatus | Sequenced | ||||||
| Variation_type | Allele | ||||||
| Origin | Species | Caenorhabditis elegans | |||||
| Laboratory | BC | ||||||
| Status | Live | ||||||
| Affects | Gene | WBGene00002632 | |||||
| Transcript | F26D11.11b.1 | VEP_consequence | stop_gained | ||||
| VEP_impact | HIGH | ||||||
| HGVSc | F26D11.11b.1:c.515_518delinsGATA | ||||||
| HGVSp | CE37008:p.Glu172_Leu173delinsGlyTer | ||||||
| cDNA_position | 515-518 | ||||||
| CDS_position | 515-518 | ||||||
| Protein_position | 172-173 | ||||||
| Exon_number | 3/10 | ||||||
| Codon_change | gAATTg/gGATAg | ||||||
| Amino_acid_change | EL/G* | ||||||
| F26D11.11f.1 | VEP_consequence | stop_gained | |||||
| VEP_impact | HIGH | ||||||
| HGVSc | F26D11.11f.1:c.515_518delinsGATA | ||||||
| HGVSp | CE53720:p.Glu172_Leu173delinsGlyTer | ||||||
| cDNA_position | 515-518 | ||||||
| CDS_position | 515-518 | ||||||
| Protein_position | 172-173 | ||||||
| Exon_number | 3/9 | ||||||
| Codon_change | gAATTg/gGATAg | ||||||
| Amino_acid_change | EL/G* | ||||||
| F26D11.11e.1 | VEP_consequence | stop_gained | |||||
| VEP_impact | HIGH | ||||||
| HGVSc | F26D11.11e.1:c.515_518delinsGATA | ||||||
| HGVSp | CE53751:p.Glu172_Leu173delinsGlyTer | ||||||
| cDNA_position | 515-518 | ||||||
| CDS_position | 515-518 | ||||||
| Protein_position | 172-173 | ||||||
| Exon_number | 3/9 | ||||||
| Codon_change | gAATTg/gGATAg | ||||||
| Amino_acid_change | EL/G* | ||||||
| F26D11.11c.1 | VEP_consequence | stop_gained | |||||
| VEP_impact | HIGH | ||||||
| HGVSc | F26D11.11c.1:c.515_518delinsGATA | ||||||
| HGVSp | CE53698:p.Glu172_Leu173delinsGlyTer | ||||||
| cDNA_position | 515-518 | ||||||
| CDS_position | 515-518 | ||||||
| Protein_position | 172-173 | ||||||
| Exon_number | 3/10 | ||||||
| Codon_change | gAATTg/gGATAg | ||||||
| Amino_acid_change | EL/G* | ||||||
| F26D11.11d.1 | VEP_consequence | stop_gained | |||||
| VEP_impact | HIGH | ||||||
| HGVSc | F26D11.11d.1:c.515_518delinsGATA | ||||||
| HGVSp | CE53759:p.Glu172_Leu173delinsGlyTer | ||||||
| cDNA_position | 663-666 | ||||||
| CDS_position | 515-518 | ||||||
| Protein_position | 172-173 | ||||||
| Exon_number | 4/11 | ||||||
| Codon_change | gAATTg/gGATAg | ||||||
| Amino_acid_change | EL/G* | ||||||
| F26D11.11a.1 | VEP_consequence | stop_gained | |||||
| VEP_impact | HIGH | ||||||
| HGVSc | F26D11.11a.1:c.515_518delinsGATA | ||||||
| HGVSp | CE53692:p.Glu172_Leu173delinsGlyTer | ||||||
| cDNA_position | 661-664 | ||||||
| CDS_position | 515-518 | ||||||
| Protein_position | 172-173 | ||||||
| Exon_number | 4/10 | ||||||
| Codon_change | gAATTg/gGATAg | ||||||
| Amino_acid_change | EL/G* | ||||||
| Genetics | Interpolated_map_position | V | 0.998962 | ||||
| Description | Phenotype | WBPhenotype:0000050 | Paper_evidence | WBPaper00001474 | |||
| Curator_confirmed | WBPerson712 | ||||||
| Remark | egg lethal | Paper_evidence | WBPaper00001474 | ||||
| Curator_confirmed | WBPerson712 | ||||||
| Reference | WBPaper00001474 | ||||||
| WBPaper00004214 | |||||||
| Remark | Flanking sequences are 30 bp to the left and right of nt 30184/30187, respectively | Curator_confirmed | WBPerson1845 | ||||
| Method | Substitution_allele |
