WormBase Tree Display for Variation: WBVar00241256

WBVar00241256 Evidence: Paper_evidence: WBPaper00027195
  Name: Public_name: qm57
    Other_name: CE45622:p.Ser13Phe
      CE22697:p.Ser254Phe
      Y62E10A.8b.1:c.38C>T
      Y62E10A.8a.1:c.761C>T
    HGVSg: CHROMOSOME_IV:g.13380309C>T
  Sequence_details: SMap: S_parent: Sequence: Y62E10A
    Flanking_sequences: gtggatatgcaagtgattctgataacgaat tgaggatgatgattgattatacaattatatt
    Mapping_target: Y62E10A
    Type_of_mutation: Substitution: c t Paper_evidence: WBPaper00027195
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00026664
    Laboratory: MQ
    Status: Live
  Affects: Gene: WBGene00003142
    Transcript: Y62E10A.8a.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        HGVSc: Y62E10A.8a.1:c.761C>T
        HGVSp: CE22697:p.Ser254Phe
        cDNA_position: 770
        CDS_position: 761
        Protein_position: 254
        Exon_number: 6/7
        Codon_change: tCt/tTt
        Amino_acid_change: S/F
      Y62E10A.8b.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        HGVSc: Y62E10A.8b.1:c.38C>T
        HGVSp: CE45622:p.Ser13Phe
        cDNA_position: 38
        CDS_position: 38
        Protein_position: 13
        Exon_number: 1/1
        Codon_change: tCt/tTt
        Amino_acid_change: S/F
  Genetics: Interpolated_map_position: IV 8.83859
  Description: Phenotype: WBPhenotype:0000062 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: some lethality; full zygotic and maternal rescue Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        Maternal: With_maternal_effect: Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000544 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: kinky jerky ratchet-like movements in reverse Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000643 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: Unc Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000646 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: lethargic Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000651 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: constipated (Exp) Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000996 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: constipated (Exp) Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
  Reference: WBPaper00027195
  Method: Substitution_allele