WormBase Tree Display for Variation: WBVar00089526
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| WBVar00089526 | Evidence | Paper_evidence | WBPaper00005620 | ||
|---|---|---|---|---|---|
| Name | Public_name | n479 | |||
| Other_name (16) | |||||
| HGVSg | CHROMOSOME_IV:g.1875966C>T | ||||
| Sequence_details | SMap | S_parent | Sequence | F55A8 | |
| Flanking_sequences | ccgagccctgtgaagattgtcgacgacttc | gagaggagtttgcacaggttacactgaaaa | |||
| Mapping_target | F55A8 | ||||
| Type_of_mutation | Substitution | c | t | ||
| SeqStatus | Sequenced | ||||
| Variation_type | Allele | ||||
| Origin | Species | Caenorhabditis elegans | |||
| Strain | WBStrain00026780 | ||||
| WBStrain00051005 | |||||
| Laboratory | MT | ||||
| Status | Live | ||||
| Affects | Gene | WBGene00001173 | |||
| Transcript | F55A8.2g.1 | VEP_consequence | stop_gained | ||
| VEP_impact | HIGH | ||||
| HGVSc | F55A8.2g.1:c.484C>T | ||||
| HGVSp | CE49110:p.Arg162Ter | ||||
| cDNA_position | 484 | ||||
| CDS_position | 484 | ||||
| Protein_position | 162 | ||||
| Exon_number | 3/5 | ||||
| Codon_change | Cga/Tga | ||||
| Amino_acid_change | R/* | ||||
| F55A8.2e.1 | VEP_consequence | stop_gained | |||
| VEP_impact | HIGH | ||||
| HGVSc | F55A8.2e.1:c.1261C>T | ||||
| HGVSp | CE37241:p.Arg421Ter | ||||
| cDNA_position | 1478 | ||||
| CDS_position | 1261 | ||||
| Protein_position | 421 | ||||
| Exon_number | 9/12 | ||||
| Codon_change | Cga/Tga | ||||
| Amino_acid_change | R/* | ||||
| F55A8.2d.1 | VEP_consequence | intron_variant | |||
| VEP_impact | MODIFIER | ||||
| HGVSc | F55A8.2d.1:c.492+2274C>T | ||||
| Intron_number | 3/3 | ||||
| F55A8.2f.1 | VEP_consequence | stop_gained | |||
| VEP_impact | HIGH | ||||
| HGVSc | F55A8.2f.1:c.442C>T | ||||
| HGVSp | CE37242:p.Arg148Ter | ||||
| cDNA_position | 570 | ||||
| CDS_position | 442 | ||||
| Protein_position | 148 | ||||
| Exon_number | 4/6 | ||||
| Codon_change | Cga/Tga | ||||
| Amino_acid_change | R/* | ||||
| F55A8.2b.1 | VEP_consequence | stop_gained | |||
| VEP_impact | HIGH | ||||
| HGVSc | F55A8.2b.1:c.1243C>T | ||||
| HGVSp | CE19898:p.Arg415Ter | ||||
| cDNA_position | 1243 | ||||
| CDS_position | 1243 | ||||
| Protein_position | 415 | ||||
| Exon_number | 8/10 | ||||
| Codon_change | Cga/Tga | ||||
| Amino_acid_change | R/* | ||||
| F55A8.2c.1 | VEP_consequence | stop_gained | |||
| VEP_impact | HIGH | ||||
| HGVSc | F55A8.2c.1:c.1279C>T | ||||
| HGVSp | CE31541:p.Arg427Ter | ||||
| cDNA_position | 1279 | ||||
| CDS_position | 1279 | ||||
| Protein_position | 427 | ||||
| Exon_number | 8/11 | ||||
| Codon_change | Cga/Tga | ||||
| Amino_acid_change | R/* | ||||
| F55A8.2h.1 | VEP_consequence | stop_gained | |||
| VEP_impact | HIGH | ||||
| HGVSc | F55A8.2h.1:c.1381C>T | ||||
| HGVSp | CE48610:p.Arg461Ter | ||||
| cDNA_position | 1381 | ||||
| CDS_position | 1381 | ||||
| Protein_position | 461 | ||||
| Exon_number | 8/11 | ||||
| Codon_change | Cga/Tga | ||||
| Amino_acid_change | R/* | ||||
| F55A8.2a.2 | VEP_consequence | stop_gained | |||
| VEP_impact | HIGH | ||||
| HGVSc | F55A8.2a.2:c.1372C>T | ||||
| HGVSp | CE19897:p.Arg458Ter | ||||
| cDNA_position | 1372 | ||||
| CDS_position | 1372 | ||||
| Protein_position | 458 | ||||
| Exon_number | 8/12 | ||||
| Codon_change | Cga/Tga | ||||
| Amino_acid_change | R/* | ||||
| F55A8.2a.1 | VEP_consequence | stop_gained | |||
| VEP_impact | HIGH | ||||
| HGVSc | F55A8.2a.1:c.1372C>T | ||||
| HGVSp | CE19897:p.Arg458Ter | ||||
| cDNA_position | 1372 | ||||
| CDS_position | 1372 | ||||
| Protein_position | 458 | ||||
| Exon_number | 8/11 | ||||
| Codon_change | Cga/Tga | ||||
| Amino_acid_change | R/* | ||||
| Interactor | WBInteraction000500652 | ||||
| WBInteraction000569524 | |||||
| WBInteraction000569525 | |||||
| Genetics | Interpolated_map_position | IV | -14.2691 | ||
| Description | Phenotype (27) | ||||
| Phenotype_not_observed (12) | |||||
| Reference (16) | |||||
| Method | Substitution_allele |
