WormBase Tree Display for Variation: WBVar00088001
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| WBVar00088001 | Evidence | Paper_evidence | WBPaper00001109 | |||||
|---|---|---|---|---|---|---|---|---|
| Name | Public_name | it20 | ||||||
| Other_name | EEED8.1.1:c.154C>T | |||||||
| CE26746:p.Gln52Ter | ||||||||
| HGVSg | CHROMOSOME_II:g.5421432C>T | |||||||
| Sequence_details | SMap | S_parent | Sequence | F07F6 | ||||
| Flanking_sequences | TGCCGTGTTGTTGGACAATCCAACGATGGT | aagttcaattggggtaagatagtgagactc | ||||||
| Mapping_target | F07F6 | |||||||
| Type_of_mutation | Substitution | c | t | |||||
| SeqStatus | Sequenced | |||||||
| Variation_type | Allele | |||||||
| Origin | Species | Caenorhabditis elegans | ||||||
| Strain | WBStrain00023566 | |||||||
| Laboratory | KK | |||||||
| Status | Live | |||||||
| Affects | Gene | WBGene00017132 | ||||||
| Transcript | EEED8.1.1 | VEP_consequence | stop_gained | |||||
| VEP_impact | HIGH | |||||||
| HGVSc | EEED8.1.1:c.154C>T | |||||||
| HGVSp | CE26746:p.Gln52Ter | |||||||
| cDNA_position | 185 | |||||||
| CDS_position | 154 | |||||||
| Protein_position | 52 | |||||||
| Exon_number | 2/9 | |||||||
| Codon_change | Caa/Taa | |||||||
| Amino_acid_change | Q/* | |||||||
| Genetics | Interpolated_map_position | II | -1.63948 | |||||
| Mapping_data | In_pos_neg_data | 4469 | ||||||
| Description | Phenotype | WBPhenotype:0000050 | Person_evidence | WBPerson205 | ||||
| Curator_confirmed | WBPerson712 | |||||||
| Remark | rescued by transgene yt2 (from mel-47 paper) | Person_evidence | WBPerson205 | |||||
| Curator_confirmed | WBPerson712 | |||||||
| Penetrance | Complete | Person_evidence | WBPerson205 | |||||
| Curator_confirmed | WBPerson712 | |||||||
| Recessive | Person_evidence | WBPerson205 | ||||||
| Curator_confirmed | WBPerson712 | |||||||
| Phenotype_assay | Strain | WBStrain00023566 | Person_evidence | WBPerson205 | ||||
| Curator_confirmed | WBPerson712 | |||||||
| WBPhenotype:0000052 | Person_evidence | WBPerson261 | ||||||
| Curator_confirmed | WBPerson712 | |||||||
| Remark | strict maternal effect embryonic lethal. | Person_evidence | WBPerson261 | |||||
| Curator_confirmed | WBPerson712 | |||||||
| Maternal | Strictly_maternal | Person_evidence | WBPerson261 | |||||
| Curator_confirmed | WBPerson712 | |||||||
| Reference | WBPaper00001109 | |||||||
| Method | Substitution_allele |
