WormBase Tree Display for Variation: WBVar00094991

WBVar00094991 Evidence: Person_evidence: WBPerson3792
  Name: Public_name: ox10
    Other_name: CE31034:p.Ala702AspfsTer7
      K09C8.1.1:c.2105del
    HGVSg: CHROMOSOME_X:g.10957209del
  Sequence_details: SMap: S_parent: Sequence: K09C8
    Flanking_sequences: aagcacgattgaaaatgaaaaagacaagag attcaaattttcttcagtgtaagattgtgaaa
    Mapping_target: K09C8
    Type_of_mutation: Deletion: c
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00006658
    Laboratory: EG
    Status: Live
  Affects: Gene: WBGene00003943
    Transcript: K09C8.1.1 VEP_consequence: frameshift_variant
        VEP_impact: HIGH
        HGVSc: K09C8.1.1:c.2105del
        HGVSp: CE31034:p.Ala702AspfsTer7
        cDNA_position: 2105
        CDS_position: 2105
        Protein_position: 702
        Exon_number: 13/16
        Codon_change: gCa/ga
        Amino_acid_change: A/X
  Isolation: Mutagen: DEB
  Genetics: Interpolated_map_position: X 2.72338
  Description: Phenotype: WBPhenotype:0000157 Person_evidence: WBPerson3792
        Curator_confirmed: WBPerson48
        Recessive: Person_evidence: WBPerson3792
          Curator_confirmed: WBPerson48
        Phenotype_assay: Genotype: pbo-4(ox10)X Person_evidence: WBPerson3792
              Curator_confirmed: WBPerson48
      WBPhenotype:0001641 Paper_evidence: WBPaper00031426
        Curator_confirmed: WBPerson712
        Penetrance: Complete: Paper_evidence: WBPaper00031426
              Curator_confirmed: WBPerson712
        Recessive: Paper_evidence: WBPaper00031426
          Curator_confirmed: WBPerson712
        Phenotype_assay: Treatment: The presence or absence of each muscle contraction was scored for 11 defecation cycles in day 1 adults (n 6). Paper_evidence: WBPaper00031426
              Curator_confirmed: WBPerson712
    Phenotype_not_observed: WBPhenotype:0000643 Paper_evidence: WBPaper00031426
        Curator_confirmed: WBPerson712
      WBPhenotype:0000996 Paper_evidence: WBPaper00031426
        Curator_confirmed: WBPerson712
        Phenotype_assay: Treatment: The presence or absence of each muscle contraction was scored for 11 defecation cycles in day 1 adults (n 6). Paper_evidence: WBPaper00031426
              Curator_confirmed: WBPerson712
  Reference: WBPaper00031426
  Remark: Deletion of nucleotide 2127(c) and results in early stop following 5 missense amino acids Person_evidence: WBPerson3792
  Method: Deletion_allele