WormBase Tree Display for Variation: WBVar00275589
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WBVar00275589 | Evidence | Paper_evidence | WBPaper00031485 | |||||
---|---|---|---|---|---|---|---|---|
Name | Public_name | ed23 | ||||||
HGVSg | chrII:g.5620403T>G | |||||||
Sequence_details | SMap | S_parent | Sequence | cb25.fpc2454a2 | ||||
Flanking_sequences | ccaagtacacaaagtttcaagttgctcaag | tgcgtactcagaagaaccattcgagaaact | ||||||
Mapping_target | cb25.fpc2454a2 | |||||||
Type_of_mutation | Substitution | a | c | |||||
SeqStatus | Sequenced | |||||||
Variation_type | Allele | |||||||
Origin | Species | Caenorhabditis briggsae | ||||||
Laboratory | DP | |||||||
Status | Live | |||||||
Affects | Gene | WBGene00032357 | ||||||
Transcript | CBG11194a.1 | VEP_consequence | missense_variant | |||||
VEP_impact | MODERATE | |||||||
HGVSc | CBG11194a.1:c.1760A>C | |||||||
HGVSp | CBP38209.1:p.Asp587Ala | |||||||
cDNA_position | 1760 | |||||||
CDS_position | 1760 | |||||||
Protein_position | 587 | |||||||
Exon_number | 10/24 | |||||||
Codon_change | gAt/gCt | |||||||
Amino_acid_change | D/A | |||||||
CBG11194b.1 | VEP_consequence | missense_variant | ||||||
VEP_impact | MODERATE | |||||||
HGVSc | CBG11194b.1:c.1745A>C | |||||||
HGVSp | CBP41441.1:p.Asp582Ala | |||||||
cDNA_position | 1745 | |||||||
CDS_position | 1745 | |||||||
Protein_position | 582 | |||||||
Exon_number | 10/24 | |||||||
Codon_change | gAt/gCt | |||||||
Amino_acid_change | D/A | |||||||
CBG11194c.1 | VEP_consequence | missense_variant | ||||||
VEP_impact | MODERATE | |||||||
HGVSc | CBG11194c.1:c.1745A>C | |||||||
HGVSp | CBP43518.1:p.Asp582Ala | |||||||
cDNA_position | 1745 | |||||||
CDS_position | 1745 | |||||||
Protein_position | 582 | |||||||
Exon_number | 10/24 | |||||||
Codon_change | gAt/gCt | |||||||
Amino_acid_change | D/A | |||||||
Description | Phenotype | WBPhenotype:0001277 | Paper_evidence | WBPaper00031485 | ||||
Curator_confirmed | WBPerson2021 | |||||||
Remark | Incomplete Tra, occasional Pvl. Complete rescue at 15C | Paper_evidence | WBPaper00031485 | |||||
Curator_confirmed | WBPerson2021 | |||||||
Penetrance | Incomplete | Paper_evidence | WBPaper00031485 | |||||
Curator_confirmed | WBPerson2021 | |||||||
Recessive | Paper_evidence | WBPaper00031485 | ||||||
Curator_confirmed | WBPerson2021 | |||||||
Variation_effect | Probable_null_via_phenotype | Paper_evidence | WBPaper00031485 | |||||
Curator_confirmed | WBPerson2021 | |||||||
Temperature_sensitive | Heat_sensitive | Paper_evidence | WBPaper00031485 | |||||
Curator_confirmed | WBPerson2021 | |||||||
Phenotype_not_observed | WBPhenotype:0001414 | Paper_evidence | WBPaper00031485 | |||||
Curator_confirmed | WBPerson2021 | |||||||
Remark | Spontaneous XO ed23ts males mate successfully at the restrictive temperature | Paper_evidence | WBPaper00031485 | |||||
Curator_confirmed | WBPerson2021 | |||||||
Recessive | Paper_evidence | WBPaper00031485 | ||||||
Curator_confirmed | WBPerson2021 | |||||||
Variation_effect | Probable_null_via_phenotype | Paper_evidence | WBPaper00031485 | |||||
Curator_confirmed | WBPerson2021 | |||||||
Reference | WBPaper00031485 | |||||||
Method | Substitution_allele |