WormBase Tree Display for Variation: WBVar00143169

WBVar00143169 Evidence: Paper_evidence: WBPaper00002050
  Name: Public_name: e389
    Other_name: CE24516:p.Gln809_Asn823delinsHis
      Y60A3A.1.1:c.2426_2467del
    HGVSg: CHROMOSOME_V:g.19996556_19996597del
  Sequence_details: SMap: S_parent: Sequence: Y60A3A
    Flanking_sequences: gaaacccccagctgtgcagtcagaggtacc attgcgatcaggataagacggtgctcacga
    Mapping_target: Y60A3A
    Type_of_mutation: Deletion
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00007502
    Laboratory: CB
    Status: Live
  Affects: Gene: WBGene00006786
    Transcript: Y60A3A.1.1 VEP_consequence: inframe_deletion
        VEP_impact: MODERATE
        HGVSc: Y60A3A.1.1:c.2426_2467del
        HGVSp: CE24516:p.Gln809_Asn823delinsHis
        cDNA_position: 2491-2532
        CDS_position: 2426-2467
        Protein_position: 809-823
        Exon_number: 9/11
        Codon_change: cAGACCGCCTACATGATGCTTCACACCTTGGCCGAGCAGGTCAat/cat
        Amino_acid_change: QTAYMMLHTLAEQVN/H
  Genetics: Interpolated_map_position: V 24.4074
  Description: Phenotype: WBPhenotype:0000006 Paper_evidence: WBPaper00002050
        Curator_confirmed: WBPerson48
      WBPhenotype:0000583 Paper_evidence: WBPaper00002050
        Curator_confirmed: WBPerson48
      WBPhenotype:0000644 Paper_evidence: WBPaper00002050
        Curator_confirmed: WBPerson48
  Reference: WBPaper00002050
  Remark: This deletion allele is coupled with an upstream point mutation [801Pro CCC to Thr CTC] Paper_evidence: WBPaper00002050
  Method: Deletion_allele