WormBase Tree Display for Variation: WBVar00143804

WBVar00143804 Name: Public_name: e1178
    Other_name: F14F3.1b.1:c.408dup
      F14F3.1a.1:c.966dup
      F14F3.1a.2:c.966dup
      CE28217:p.Ser165PhefsTer63
      CE28216:p.Ser138PhefsTer63
      CE24899:p.Ser324PhefsTer63
      F14F3.1c.1:c.489dup
    HGVSg: CHROMOSOME_X:g.10517603dup
  Sequence_details: SMap: S_parent: Sequence: F14F3
    Flanking_sequences: ggatctccggccagcacgccgaatcgattc ccttccaacaattcggcaaatctaccgaca
    Mapping_target: F14F3
    Type_of_mutation: Insertion: c Paper_evidence: WBPaper00024640
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Laboratory: CB
    Status: Live
  Affects: Gene: WBGene00006870
    Transcript: F14F3.1c.1 VEP_consequence: frameshift_variant
        VEP_impact: HIGH
        HGVSc: F14F3.1c.1:c.489dup
        HGVSp: CE28217:p.Ser165PhefsTer63
        cDNA_position: 494-495
        CDS_position: 489-490
        Protein_position: 163-164
        Exon_number: 5/8
        Codon_change: -/C
        Amino_acid_change: -/X
      F14F3.1a.1 VEP_consequence: frameshift_variant
        VEP_impact: HIGH
        HGVSc: F14F3.1a.1:c.966dup
        HGVSp: CE24899:p.Ser324PhefsTer63
        cDNA_position: 1268-1269
        CDS_position: 966-967
        Protein_position: 322-323
        Exon_number: 11/14
        Codon_change: -/C
        Amino_acid_change: -/X
      F14F3.1a.2 VEP_consequence: frameshift_variant
        VEP_impact: HIGH
        HGVSc: F14F3.1a.2:c.966dup
        HGVSp: CE24899:p.Ser324PhefsTer63
        cDNA_position: 1058-1059
        CDS_position: 966-967
        Protein_position: 322-323
        Exon_number: 10/13
        Codon_change: -/C
        Amino_acid_change: -/X
      F14F3.1b.1 VEP_consequence: frameshift_variant
        VEP_impact: HIGH
        HGVSc: F14F3.1b.1:c.408dup
        HGVSp: CE28216:p.Ser138PhefsTer63
        cDNA_position: 408-409
        CDS_position: 408-409
        Protein_position: 136-137
        Exon_number: 4/6
        Codon_change: -/C
        Amino_acid_change: -/X
  Isolation: Mutagen: ICR-191 Paper_evidence: WBPaper00024640
  Genetics: Interpolated_map_position: X 2.22451
    Mapping_data: In_pos_neg_data: 4980
  Description: Phenotype: WBPhenotype:0000054 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: 60% larval lethal Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        Penetrance: Incomplete: 60% Person_evidence: WBPerson261
              Curator_confirmed: WBPerson712
  Reference: WBPaper00014771
    WBPaper00004825
    WBPaper00014314
    WBPaper00017246
  Method: Insertion_allele