WormBase Tree Display for Variation: WBVar00241583

WBVar00241583 Evidence: Paper_evidence: WBPaper00027002
  Name: Public_name: rh219
    Other_name: CE47338:p.Leu247Phe
      W03F8.5a.1:c.739C>T
    HGVSg: CHROMOSOME_IV:g.5175020C>T
  Sequence_details: SMap: S_parent: Sequence: W03F8
    Flanking_sequences: ttgagatttaatttcaccaaattgcacact ttggagatgatttgttggattataggttag
    Mapping_target: W03F8
    Type_of_mutation: Substitution: c t Paper_evidence: WBPaper00027002
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Laboratory: NJ
    Status: Live
  Affects: Gene: WBGene00002247
    Transcript: W03F8.5a.1 (12)
  Genetics: Interpolated_map_position: IV 1.54999
  Description: Phenotype: WBPhenotype:0000054 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: rh219/Df is larval lethal Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000174 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: resembles Epi-1, basal lamina missing or defective in epidermis, gonad, intestine Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000200 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: abnormal basement membranes Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000505 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: abnormal ray morphology Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000691 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: abnormal proximal gonad Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000704 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: abnormal excretory canals Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000942 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: abnormal sheath cells Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0005762 PATO:0000460 Person_evidence: WBPerson261
                Curator_confirmed: WBPerson712
      WBPhenotype:0001118 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: abnormal muscle cell positions Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0003675 PATO:0000460 Person_evidence: WBPerson261
                Curator_confirmed: WBPerson712
  Reference: WBPaper00027002
  Remark: Manually curated Gene associations preserved as a text remark so that VEP is the canonical predictor of consequence: WBGene00002247 Missense 247 L to F Paper_evidence: WBPaper00027002
  Method: Substitution_allele