WormBase Tree Display for Variation: WBVar00242148

WBVar00242148 Evidence: Paper_evidence: WBPaper00005824
  Name: Public_name: s1586
    Other_name: C38C3.5.1:c.4-352_90+170del
    HGVSg: CHROMOSOME_V:g.1476530_1477138del
  Sequence_details: SMap: S_parent: Sequence: C38C3
    Flanking_sequences: ttctcagtatctttattgtttagtgaaatg tagcgctacagtagtcatttaaaggattac
    Mapping_target: C38C3
    Type_of_mutation: Deletion
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Laboratory: BC
    Status: Live
  Affects: Gene: WBGene00302980
      WBGene00006794
    Transcript: F53E2.2.1 VEP_consequence: 3_prime_UTR_variant
        VEP_impact: MODIFIER
        cDNA_position: 1009-?
        Exon_number: 7/7
      C38C3.5.1 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: C38C3.5.1:c.4-352_90+170del
        Intron_number: 2-3/6
        Exon_number: 3/7
    Interactor: WBInteraction000519090
  Genetics: Interpolated_map_position: V -18.8773
  Description: Phenotype: WBPhenotype:0000057 Paper_evidence: WBPaper00001474
        Curator_confirmed: WBPerson712
      WBPhenotype:0000058 Paper_evidence: WBPaper00005824
        Curator_confirmed: WBPerson48
        Recessive: Paper_evidence: WBPaper00005824
          Curator_confirmed: WBPerson48
        Variation_effect: Null: Paper_evidence: WBPaper00005824
            Curator_confirmed: WBPerson48
  Reference: WBPaper00014568
    WBPaper00021016
    WBPaper00001474
    WBPaper00014773
    WBPaper00005824
  Remark: Flanking sequences are 30 bp to the left of nt 1392 and 30 bp to the right of 2000 nt of C38C3 - estimated from Fig. 8A of cgc5824 as no precise coordinates are available Curator_confirmed: WBPerson1845
    s1586 is a deletion that completely removes exon 2B and approx. 250 bp of the 3' UTR in exon 5A Paper_evidence: WBPaper00005824
  Method: Deletion_allele