WormBase Tree Display for Variation: WBVar00144044
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| WBVar00144044 | Evidence | Paper_evidence | WBPaper00000502 | ||||
|---|---|---|---|---|---|---|---|
| Name | Public_name | e1496 | |||||
| Other_name | T07H8.4d.1:c.568+5G>A | ||||||
| T07H8.4j.1:c.568+5G>A | |||||||
| T07H8.4f.1:c.37+5G>A | |||||||
| T07H8.4i.1:c.592+5G>A | |||||||
| T07H8.4e.1:c.445+5G>A | |||||||
| T07H8.4a.1:c.604+5G>A | |||||||
| T07H8.4c.1:c.592+5G>A | |||||||
| T07H8.4d.2:c.568+5G>A | |||||||
| T07H8.4h.1:c.604+5G>A | |||||||
| T07H8.4b.1:c.592+5G>A | |||||||
| HGVSg | CHROMOSOME_V:g.6957606G>A | ||||||
| Sequence_details | SMap | S_parent | Sequence | T07H8 | |||
| Flanking_sequences | ccgatctcttggaaaagtctgtattggtga | tgacattagaaatgcaacattttcaaacaa | |||||
| Mapping_target | T07H8 | ||||||
| Type_of_mutation | Substitution | g | a | Paper_evidence | WBPaper00024622 | ||
| SeqStatus | Sequenced | ||||||
| Variation_type | Allele | ||||||
| Origin | Species | Caenorhabditis elegans | |||||
| Laboratory | CB | ||||||
| Status | Live | ||||||
| Affects | Gene | WBGene00003165 | |||||
| Transcript | T07H8.4e.1 | VEP_consequence | splice_region_variant,intron_variant | ||||
| VEP_impact | LOW | ||||||
| HGVSc | T07H8.4e.1:c.445+5G>A | ||||||
| Intron_number | 2/27 | ||||||
| T07H8.4b.1 | VEP_consequence | splice_region_variant,intron_variant | |||||
| VEP_impact | LOW | ||||||
| HGVSc | T07H8.4b.1:c.592+5G>A | ||||||
| Intron_number | 4/25 | ||||||
| T07H8.4j.1 | VEP_consequence | splice_region_variant,intron_variant | |||||
| VEP_impact | LOW | ||||||
| HGVSc | T07H8.4j.1:c.568+5G>A | ||||||
| Intron_number | 4/4 | ||||||
| T07H8.4i.1 | VEP_consequence | splice_region_variant,intron_variant | |||||
| VEP_impact | LOW | ||||||
| HGVSc | T07H8.4i.1:c.592+5G>A | ||||||
| Intron_number | 4/12 | ||||||
| T07H8.4a.1 | VEP_consequence | splice_region_variant,intron_variant | |||||
| VEP_impact | LOW | ||||||
| HGVSc | T07H8.4a.1:c.604+5G>A | ||||||
| Intron_number | 5/31 | ||||||
| T07H8.4h.1 | VEP_consequence | splice_region_variant,intron_variant | |||||
| VEP_impact | LOW | ||||||
| HGVSc | T07H8.4h.1:c.604+5G>A | ||||||
| Intron_number | 4/29 | ||||||
| T07H8.4d.2 | VEP_consequence | splice_region_variant,intron_variant | |||||
| VEP_impact | LOW | ||||||
| HGVSc | T07H8.4d.2:c.568+5G>A | ||||||
| Intron_number | 5/30 | ||||||
| T07H8.4c.1 | VEP_consequence | splice_region_variant,intron_variant | |||||
| VEP_impact | LOW | ||||||
| HGVSc | T07H8.4c.1:c.592+5G>A | ||||||
| Intron_number | 4/13 | ||||||
| T07H8.4f.1 | VEP_consequence | splice_region_variant,intron_variant | |||||
| VEP_impact | LOW | ||||||
| HGVSc | T07H8.4f.1:c.37+5G>A | ||||||
| Intron_number | 4/29 | ||||||
| T07H8.4d.1 | VEP_consequence | splice_region_variant,intron_variant | |||||
| VEP_impact | LOW | ||||||
| HGVSc | T07H8.4d.1:c.568+5G>A | ||||||
| Intron_number | 5/31 | ||||||
| Interactor | WBInteraction000502022 | ||||||
| Genetics | Interpolated_map_position | V | 0.48201 | ||||
| Description | Phenotype | WBPhenotype:0000456 | Paper_evidence | WBPaper00000502 | |||
| Curator_confirmed | WBPerson712 | ||||||
| Recessive | Paper_evidence | WBPaper00000502 | |||||
| Curator_confirmed | WBPerson712 | ||||||
| WBPhenotype:0001310 | Paper_evidence | WBPaper00000502 | |||||
| Curator_confirmed | WBPerson712 | ||||||
| Remark | Cell bodies of anterior touch neurons displaced dorsally. | Paper_evidence | WBPaper00000502 | ||||
| Curator_confirmed | WBPerson712 | ||||||
| Recessive | Paper_evidence | WBPaper00000502 | |||||
| Curator_confirmed | WBPerson712 | ||||||
| WBPhenotype:0001534 | Paper_evidence | WBPaper00000502 | |||||
| Curator_confirmed | WBPerson712 | ||||||
| Remark | ECM is missing along VC. | Paper_evidence | WBPaper00000502 | ||||
| Curator_confirmed | WBPerson712 | ||||||
| Recessive | Paper_evidence | WBPaper00000502 | |||||
| Curator_confirmed | WBPerson712 | ||||||
| Reference | WBPaper00000502 | ||||||
| Method | Substitution_allele |
