WormBase Tree Display for Variation: WBVar00144372
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| WBVar00144372 | Evidence | Paper_evidence | WBPaper00005468 | ||||||
|---|---|---|---|---|---|---|---|---|---|
| Name | Public_name | e1873 | |||||||
| Other_name | CE33588:p.Gln1363Ter | ||||||||
| ZK973.6c.1:c.4066C>T | |||||||||
| CE52179:p.Gln1356Ter | |||||||||
| CE52283:p.Gln358Ter | |||||||||
| ZK973.6b.1:c.1072C>T | |||||||||
| ZK973.6a.1:c.4087C>T | |||||||||
| HGVSg | CHROMOSOME_I:g.4335839C>T | ||||||||
| Sequence_details | SMap | S_parent | Sequence | ZK973 | |||||
| Flanking_sequences | cattctgccaagatcaacgctaagctgaca | aatttgaaaaatggctcaacgccatcgaag | |||||||
| Mapping_target | ZK973 | ||||||||
| Type_of_mutation | Substitution | c | t | Paper_evidence | WBPaper00005468 | ||||
| SeqStatus | Sequenced | ||||||||
| Variation_type | Allele | ||||||||
| Origin | Species | Caenorhabditis elegans | |||||||
| Strain | WBStrain00004487 | ||||||||
| Laboratory | CB | ||||||||
| Status | Live | ||||||||
| Affects | Gene | WBGene00000140 | |||||||
| Transcript | ZK973.6c.1 | VEP_consequence | stop_gained | ||||||
| VEP_impact | HIGH | ||||||||
| HGVSc | ZK973.6c.1:c.4066C>T | ||||||||
| HGVSp | CE52179:p.Gln1356Ter | ||||||||
| cDNA_position | 4066 | ||||||||
| CDS_position | 4066 | ||||||||
| Protein_position | 1356 | ||||||||
| Exon_number | 16/30 | ||||||||
| Codon_change | Caa/Taa | ||||||||
| Amino_acid_change | Q/* | ||||||||
| ZK973.6b.1 | VEP_consequence | stop_gained | |||||||
| VEP_impact | HIGH | ||||||||
| HGVSc | ZK973.6b.1:c.1072C>T | ||||||||
| HGVSp | CE52283:p.Gln358Ter | ||||||||
| cDNA_position | 1158 | ||||||||
| CDS_position | 1072 | ||||||||
| Protein_position | 358 | ||||||||
| Exon_number | 6/20 | ||||||||
| Codon_change | Caa/Taa | ||||||||
| Amino_acid_change | Q/* | ||||||||
| ZK973.6a.1 | VEP_consequence | stop_gained | |||||||
| VEP_impact | HIGH | ||||||||
| HGVSc | ZK973.6a.1:c.4087C>T | ||||||||
| HGVSp | CE33588:p.Gln1363Ter | ||||||||
| cDNA_position | 4087 | ||||||||
| CDS_position | 4087 | ||||||||
| Protein_position | 1363 | ||||||||
| Exon_number | 16/31 | ||||||||
| Codon_change | Caa/Taa | ||||||||
| Amino_acid_change | Q/* | ||||||||
| Interactor | WBInteraction000523985 | ||||||||
| WBInteraction000523986 | |||||||||
| Genetics | Interpolated_map_position | I | -1.50034 | ||||||
| Description | Phenotype | WBPhenotype:0001152 | Paper_evidence | WBPaper00039986 | |||||
| Curator_confirmed | WBPerson712 | ||||||||
| Remark | Animals exhibited mild male pronuclear migrations defects. | Paper_evidence | WBPaper00039986 | ||||||
| Curator_confirmed | WBPerson712 | ||||||||
| Penetrance | Incomplete | Paper_evidence | WBPaper00039986 | ||||||
| Curator_confirmed | WBPerson712 | ||||||||
| WBPhenotype:0001345 | Person_evidence | WBPerson261 | |||||||
| Curator_confirmed | WBPerson712 | ||||||||
| Remark | Resembles e1753. | Person_evidence | WBPerson261 | ||||||
| Curator_confirmed | WBPerson712 | ||||||||
| WBPhenotype:0001997 | Person_evidence | WBPerson261 | |||||||
| Curator_confirmed | WBPerson712 | ||||||||
| Remark | Resembles e1753. | Person_evidence | WBPerson261 | ||||||
| Curator_confirmed | WBPerson712 | ||||||||
| EQ_annotations | Anatomy_term | WBbt:0007846 | PATO:0000460 | Person_evidence | WBPerson261 | ||||
| Curator_confirmed | WBPerson712 | ||||||||
| WBPhenotype:0002069 | Paper_evidence | WBPaper00045474 | |||||||
| Curator_confirmed | WBPerson4866 | ||||||||
| Reference | WBPaper00039986 | ||||||||
| WBPaper00005468 | |||||||||
| WBPaper00045474 | |||||||||
| WBPaper00065313 | |||||||||
| Method | Substitution_allele |
