WormBase Tree Display for Variation: WBVar00241488
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| WBVar00241488 | Evidence | Paper_evidence | WBPaper00006005 | ||||
|---|---|---|---|---|---|---|---|
| Name | Public_name | ra605 | |||||
| Other_name | CE51857:p.Gln1245Ter | ||||||
| T02C5.5i.1:c.3928C>T | |||||||
| T02C5.5h.1:c.3928C>T | |||||||
| T02C5.5c.1:c.3460C>T | |||||||
| T02C5.5n.1:c.4162C>T | |||||||
| CE52764:p.Gln1380Ter | |||||||
| T02C5.5f.1:c.3928C>T | |||||||
| CE34980:p.Gln1288Ter | |||||||
| CE51886:p.Gln1310Ter | |||||||
| T02C5.5o.1:c.4138C>T | |||||||
| CE51839:p.Gln1245Ter | |||||||
| CE51840:p.Gln1310Ter | |||||||
| CE51899:p.Gln1154Ter | |||||||
| T02C5.5l.1:c.3733C>T | |||||||
| CE52692:p.Gln1432Ter | |||||||
| CE51879:p.Gln1310Ter | |||||||
| CE52755:p.Gln1388Ter | |||||||
| CE51867:p.Gln1245Ter | |||||||
| CE52709:p.Gln1246Ter | |||||||
| T02C5.5b.1:c.3862C>T | |||||||
| T02C5.5j.1:c.3733C>T | |||||||
| CE51856:p.Gln1245Ter | |||||||
| T02C5.5q.1:c.3736C>T | |||||||
| T02C5.5k.1:c.3733C>T | |||||||
| CE51907:p.Gln1310Ter | |||||||
| T02C5.5p.1:c.4294C>T | |||||||
| T02C5.5g.1:c.3928C>T | |||||||
| CE51900:p.Gln1154Ter | |||||||
| T02C5.5m.1:c.3733C>T | |||||||
| T02C5.5a.1:c.3460C>T | |||||||
| HGVSg | CHROMOSOME_X:g.2717967G>A | ||||||
| Sequence_details | SMap | S_parent | Sequence | T02C5 | |||
| Flanking_sequences | cgagcagctcgtctcattcgtctcctgcag | aaggatataccatccgaatcctactctgga | |||||
| Mapping_target | T02C5 | ||||||
| Type_of_mutation | Substitution | c | t | Paper_evidence | WBPaper00006005 | ||
| SeqStatus | Sequenced | ||||||
| Variation_type | Allele | ||||||
| Origin | Species | Caenorhabditis elegans | |||||
| Laboratory | DM | ||||||
| Status | Live | ||||||
| Affects | Gene | WBGene00006742 | |||||
| Transcript | T02C5.5g.1 | VEP_consequence | stop_gained | ||||
| VEP_impact | HIGH | ||||||
| HGVSc | T02C5.5g.1:c.3928C>T | ||||||
| HGVSp | CE51886:p.Gln1310Ter | ||||||
| cDNA_position | 3928 | ||||||
| CDS_position | 3928 | ||||||
| Protein_position | 1310 | ||||||
| Exon_number | 18/29 | ||||||
| Codon_change | Caa/Taa | ||||||
| Amino_acid_change | Q/* | ||||||
| T02C5.5q.1 | VEP_consequence | stop_gained | |||||
| VEP_impact | HIGH | ||||||
| HGVSc | T02C5.5q.1:c.3736C>T | ||||||
| HGVSp | CE52709:p.Gln1246Ter | ||||||
| cDNA_position | 3736 | ||||||
| CDS_position | 3736 | ||||||
| Protein_position | 1246 | ||||||
| Exon_number | 18/28 | ||||||
| Codon_change | Caa/Taa | ||||||
| Amino_acid_change | Q/* | ||||||
| T02C5.5j.1 | VEP_consequence | stop_gained | |||||
| VEP_impact | HIGH | ||||||
| HGVSc | T02C5.5j.1:c.3733C>T | ||||||
| HGVSp | CE51856:p.Gln1245Ter | ||||||
| cDNA_position | 3733 | ||||||
| CDS_position | 3733 | ||||||
| Protein_position | 1245 | ||||||
| Exon_number | 18/29 | ||||||
| Codon_change | Caa/Taa | ||||||
| Amino_acid_change | Q/* | ||||||
| T02C5.5o.1 | VEP_consequence | stop_gained | |||||
| VEP_impact | HIGH | ||||||
| HGVSc | T02C5.5o.1:c.4138C>T | ||||||
| HGVSp | CE52764:p.Gln1380Ter | ||||||
| cDNA_position | 4138 | ||||||
| CDS_position | 4138 | ||||||
| Protein_position | 1380 | ||||||
| Exon_number | 22/32 | ||||||
| Codon_change | Caa/Taa | ||||||
| Amino_acid_change | Q/* | ||||||
| T02C5.5f.1 | VEP_consequence | stop_gained | |||||
| VEP_impact | HIGH | ||||||
| HGVSc | T02C5.5f.1:c.3928C>T | ||||||
| HGVSp | CE51879:p.Gln1310Ter | ||||||
| cDNA_position | 3928 | ||||||
| CDS_position | 3928 | ||||||
| Protein_position | 1310 | ||||||
| Exon_number | 18/30 | ||||||
| Codon_change | Caa/Taa | ||||||
| Amino_acid_change | Q/* | ||||||
| T02C5.5h.1 | VEP_consequence | stop_gained | |||||
| VEP_impact | HIGH | ||||||
| HGVSc | T02C5.5h.1:c.3928C>T | ||||||
| HGVSp | CE51907:p.Gln1310Ter | ||||||
| cDNA_position | 3928 | ||||||
| CDS_position | 3928 | ||||||
| Protein_position | 1310 | ||||||
| Exon_number | 18/29 | ||||||
| Codon_change | Caa/Taa | ||||||
| Amino_acid_change | Q/* | ||||||
| T02C5.5c.1 | VEP_consequence | stop_gained | |||||
| VEP_impact | HIGH | ||||||
| HGVSc | T02C5.5c.1:c.3460C>T | ||||||
| HGVSp | CE51899:p.Gln1154Ter | ||||||
| cDNA_position | 3460 | ||||||
| CDS_position | 3460 | ||||||
| Protein_position | 1154 | ||||||
| Exon_number | 16/28 | ||||||
| Codon_change | Caa/Taa | ||||||
| Amino_acid_change | Q/* | ||||||
| T02C5.5p.1 | VEP_consequence | stop_gained | |||||
| VEP_impact | HIGH | ||||||
| HGVSc | T02C5.5p.1:c.4294C>T | ||||||
| HGVSp | CE52692:p.Gln1432Ter | ||||||
| cDNA_position | 4294 | ||||||
| CDS_position | 4294 | ||||||
| Protein_position | 1432 | ||||||
| Exon_number | 24/34 | ||||||
| Codon_change | Caa/Taa | ||||||
| Amino_acid_change | Q/* | ||||||
| T02C5.5k.1 | VEP_consequence | stop_gained | |||||
| VEP_impact | HIGH | ||||||
| HGVSc | T02C5.5k.1:c.3733C>T | ||||||
| HGVSp | CE51839:p.Gln1245Ter | ||||||
| cDNA_position | 3733 | ||||||
| CDS_position | 3733 | ||||||
| Protein_position | 1245 | ||||||
| Exon_number | 18/28 | ||||||
| Codon_change | Caa/Taa | ||||||
| Amino_acid_change | Q/* | ||||||
| T02C5.5m.1 | VEP_consequence | stop_gained | |||||
| VEP_impact | HIGH | ||||||
| HGVSc | T02C5.5m.1:c.3733C>T | ||||||
| HGVSp | CE51867:p.Gln1245Ter | ||||||
| cDNA_position | 3733 | ||||||
| CDS_position | 3733 | ||||||
| Protein_position | 1245 | ||||||
| Exon_number | 18/28 | ||||||
| Codon_change | Caa/Taa | ||||||
| Amino_acid_change | Q/* | ||||||
| T02C5.5l.1 | VEP_consequence | stop_gained | |||||
| VEP_impact | HIGH | ||||||
| HGVSc | T02C5.5l.1:c.3733C>T | ||||||
| HGVSp | CE51857:p.Gln1245Ter | ||||||
| cDNA_position | 3733 | ||||||
| CDS_position | 3733 | ||||||
| Protein_position | 1245 | ||||||
| Exon_number | 18/29 | ||||||
| Codon_change | Caa/Taa | ||||||
| Amino_acid_change | Q/* | ||||||
| T02C5.5a.1 | VEP_consequence | stop_gained | |||||
| VEP_impact | HIGH | ||||||
| HGVSc | T02C5.5a.1:c.3460C>T | ||||||
| HGVSp | CE51900:p.Gln1154Ter | ||||||
| cDNA_position | 3460 | ||||||
| CDS_position | 3460 | ||||||
| Protein_position | 1154 | ||||||
| Exon_number | 16/21 | ||||||
| Codon_change | Caa/Taa | ||||||
| Amino_acid_change | Q/* | ||||||
| T02C5.5n.1 | VEP_consequence | stop_gained | |||||
| VEP_impact | HIGH | ||||||
| HGVSc | T02C5.5n.1:c.4162C>T | ||||||
| HGVSp | CE52755:p.Gln1388Ter | ||||||
| cDNA_position | 4162 | ||||||
| CDS_position | 4162 | ||||||
| Protein_position | 1388 | ||||||
| Exon_number | 22/32 | ||||||
| Codon_change | Caa/Taa | ||||||
| Amino_acid_change | Q/* | ||||||
| T02C5.5i.1 | VEP_consequence | stop_gained | |||||
| VEP_impact | HIGH | ||||||
| HGVSc | T02C5.5i.1:c.3928C>T | ||||||
| HGVSp | CE51840:p.Gln1310Ter | ||||||
| cDNA_position | 3928 | ||||||
| CDS_position | 3928 | ||||||
| Protein_position | 1310 | ||||||
| Exon_number | 18/28 | ||||||
| Codon_change | Caa/Taa | ||||||
| Amino_acid_change | Q/* | ||||||
| T02C5.5b.1 | VEP_consequence | stop_gained | |||||
| VEP_impact | HIGH | ||||||
| HGVSc | T02C5.5b.1:c.3862C>T | ||||||
| HGVSp | CE34980:p.Gln1288Ter | ||||||
| cDNA_position | 3918 | ||||||
| CDS_position | 3862 | ||||||
| Protein_position | 1288 | ||||||
| Exon_number | 19/30 | ||||||
| Codon_change | Caa/Taa | ||||||
| Amino_acid_change | Q/* | ||||||
| Genetics | Interpolated_map_position | X | -13.8054 | ||||
| Reference | WBPaper00006005 | ||||||
| Method | Substitution_allele |
