WormBase Tree Display for Variation: WBVar00248905
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| WBVar00248905 | Evidence | Paper_evidence | WBPaper00001485 | ||||||
|---|---|---|---|---|---|---|---|---|---|
| Name | Public_name | sy93 | |||||||
| Other_name | ZK792.6.1:c.355G>A | ||||||||
| CE03827:p.Asp119Asn | |||||||||
| HGVSg | CHROMOSOME_IV:g.11689971C>T | ||||||||
| Sequence_details | SMap | S_parent | Sequence | ZK792 | |||||
| Flanking_sequences | gttcctatggtcttggtagggaataaatgt | atttgtcatctcgatcagtcgacttccgaa | |||||||
| Mapping_target | ZK792 | ||||||||
| Type_of_mutation | Substitution | g | a | Paper_evidence | WBPaper00001485 | ||||
| SeqStatus | Sequenced | ||||||||
| Variation_type | Allele | ||||||||
| Origin | Species | Caenorhabditis elegans | |||||||
| Strain | WBStrain00030704 | ||||||||
| WBStrain00030813 | |||||||||
| Laboratory | PS | ||||||||
| Status | Live | ||||||||
| Affects | Gene | WBGene00002335 | |||||||
| Transcript | ZK792.6.1 (12) | ||||||||
| Genetics | Interpolated_map_position | IV | 5.20996 | ||||||
| Description | Phenotype | WBPhenotype:0000414 | Paper_evidence | WBPaper00003135 | |||||
| Curator_confirmed | WBPerson2987 | ||||||||
| Remark | let-60(sy93) resulted in a 45% penetrant P12 to P11 cell fate transformation (Fig. 1C, Table 1A) | Paper_evidence | WBPaper00003135 | ||||||
| Curator_confirmed | WBPerson2987 | ||||||||
| Penetrance | Incomplete | 45% penetrance | Paper_evidence | WBPaper00003135 | |||||
| Curator_confirmed | WBPerson2987 | ||||||||
| Variation_effect | Dominant_negative_gain_of_function | Paper_evidence | WBPaper00003135 | ||||||
| Curator_confirmed | WBPerson2987 | ||||||||
| EQ_annotations | Anatomy_term | WBbt:0004410 | PATO:0000460 | Paper_evidence | WBPaper00003135 | ||||
| Curator_confirmed | WBPerson2987 | ||||||||
| WBbt:0004409 | PATO:0000460 | Paper_evidence | WBPaper00003135 | ||||||
| Curator_confirmed | WBPerson2987 | ||||||||
| WBPhenotype:0000698 | Person_evidence | WBPerson261 | |||||||
| Curator_confirmed | WBPerson712 | ||||||||
| Remark | dominant Vul | Person_evidence | WBPerson261 | ||||||
| Curator_confirmed | WBPerson712 | ||||||||
| Dominant | Person_evidence | WBPerson261 | |||||||
| Curator_confirmed | WBPerson712 | ||||||||
| WBPhenotype:0001413 | Paper_evidence | WBPaper00040813 | |||||||
| Curator_confirmed | WBPerson2706 | ||||||||
| Phenotype_not_observed | WBPhenotype:0000062 | Person_evidence | WBPerson261 | ||||||
| Curator_confirmed | WBPerson712 | ||||||||
| Remark | viable | Person_evidence | WBPerson261 | ||||||
| Curator_confirmed | WBPerson712 | ||||||||
| Dominant | Person_evidence | WBPerson261 | |||||||
| Curator_confirmed | WBPerson712 | ||||||||
| Reference | WBPaper00040813 | ||||||||
| WBPaper00003135 | |||||||||
| WBPaper00001485 | |||||||||
| Method | Substitution_allele |
