WormBase Tree Display for Variation: WBVar00091390

WBVar00091390 Evidence: Paper_evidence: WBPaper00025114
  Name: Public_name: nr2041
    Other_name: K10C3.6b.2:c.238+231_669del
      K10C3.6a.1:c.238+231_672del
      K10C3.6d.1:c.265+231_699del
      K10C3.6a.2:c.238+231_672del
      K10C3.6b.1:c.238+231_669del
      K10C3.6c.1:c.310+231_744del
    HGVSg: CHROMOSOME_I:g.9872284_9873176del
  Sequence_details: SMap: S_parent: Sequence: K10C3
    Flanking_sequences: CCGTAGATTCCATTTCAAAACACGATATTT TCGATGGAAGATAAGATCATTCTACTGAAA
    Mapping_target: K10C3
    Type_of_mutation: Deletion
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00034504
      WBStrain00040338
    Laboratory: NS
    Status: Live
  Affects: Gene: WBGene00003639
    Transcript: K10C3.6a.1 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: K10C3.6a.1:c.238+231_672del
        cDNA_position: ?-674
        CDS_position: ?-672
        Protein_position: ?-224
        Intron_number: 3-4/7
        Exon_number: 4-5/8
      K10C3.6d.1 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: K10C3.6d.1:c.265+231_699del
        cDNA_position: ?-699
        CDS_position: ?-699
        Protein_position: ?-233
        Intron_number: 3-4/6
        Exon_number: 4-5/7
      K10C3.6e.1 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,5_prime_UTR_variant,intron_variant
        VEP_impact: HIGH
        cDNA_position: ?-303
        CDS_position: ?-303
        Protein_position: ?-101
        Intron_number: 1/3
        Exon_number: 1-2/4
      K10C3.6a.2 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: K10C3.6a.2:c.238+231_672del
        cDNA_position: ?-810
        CDS_position: ?-672
        Protein_position: ?-224
        Intron_number: 4-5/8
        Exon_number: 5-6/9
      K10C3.6c.1 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: K10C3.6c.1:c.310+231_744del
        cDNA_position: ?-744
        CDS_position: ?-744
        Protein_position: ?-248
        Intron_number: 3-4/6
        Exon_number: 4-5/7
      K10C3.6b.1 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: K10C3.6b.1:c.238+231_669del
        cDNA_position: ?-671
        CDS_position: ?-669
        Protein_position: ?-223
        Intron_number: 3-4/7
        Exon_number: 4-5/8
      K10C3.6b.2 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: K10C3.6b.2:c.238+231_669del
        cDNA_position: ?-808
        CDS_position: ?-669
        Protein_position: ?-223
        Intron_number: 4-5/8
        Exon_number: 5-6/9
    Interactor (27)
  Genetics: Interpolated_map_position: I 3.96514
  Description: Phenotype (13)
    Phenotype_not_observed: WBPhenotype:0000138 Paper_evidence: WBPaper00039781
        Curator_confirmed: WBPerson712
        Remark: The relative content in fatty acid increased in animals, as measured by GC-MS, which is comparable to N2 animals. Fatty acids fed and measured: oleic acid, palmitic acid, stearic acid, and PUFA (arachidonic acid and alpha-linolenic acid). Paper_evidence: WBPaper00039781
            Curator_confirmed: WBPerson712
      WBPhenotype:0002087 Paper_evidence: WBPaper00062603
        Curator_confirmed: WBPerson38413
  Disease_info: Models_disease: DOID:9970
    Models_disease_in_annotation: WBDOannot00000610
  Reference: WBPaper00025114
    WBPaper00039781
    WBPaper00046499
    WBPaper00044077
    WBPaper00062224
    WBPaper00064979
    WBPaper00062603
  Method: Deletion_allele