WormBase Tree Display for Variation: WBVar00088803

WBVar00088803 Evidence: Paper_evidence: WBPaper00029143
  Name: Public_name: md125
    Other_name: F31E8.2a.1:c.1120-23_1181del
      F31E8.2b.1:c.1126-23_1187del
    HGVSg: CHROMOSOME_II:g.6815500_6815584del
  Sequence_details: SMap: S_parent: Sequence: F31E8
    Flanking_sequences: tcattcaacttcgagacgatttttgaatat aaggtgtctattgggatgtaatggaaccgg
    Mapping_target: F31E8
    Type_of_mutation: Deletion
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Laboratory: RM
    Status: Live
  Affects: Gene: WBGene00004921
    Transcript: F31E8.2b.1 VEP_consequence: splice_acceptor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: F31E8.2b.1:c.1126-23_1187del
        cDNA_position: ?-1187
        CDS_position: ?-1187
        Protein_position: ?-396
        Intron_number: 6/7
        Exon_number: 7/8
      F31E8.2a.1 VEP_consequence: splice_acceptor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: F31E8.2a.1:c.1120-23_1181del
        cDNA_position: ?-1186
        CDS_position: ?-1181
        Protein_position: ?-394
        Intron_number: 7/9
        Exon_number: 8/10
  Genetics: Interpolated_map_position: II 0.115811
    Mapping_data: In_2_point: 6025
      In_multi_point: 2072
        2073
      In_pos_neg_data (11)
  Description: Phenotype: WBPhenotype:0000031 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: slow-growing Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000229 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
      WBPhenotype:0000563 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: slight shrinker Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000634 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: some pumping defects Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000643 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: uncoordinated Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000650 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: some defecation defects Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0001289 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: resistant to cholinesterase inhibitors Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
  Reference: WBPaper00029143
  Remark: In addition to the deletion described md125 also deletes exons 1-3 Paper_evidence: WBPaper00029143
  Method: Deletion_allele