WormBase Tree Display for Variation: WBVar00144626

WBVar00144626 Evidence: Paper_evidence: WBPaper00002121
  Name: Public_name: e2198
    Other_name: CE52672:p.Pro88Leu
      CE52664:p.Pro88Leu
      Y47D3A.6b.1:c.263C>T
      Y47D3A.6a.1:c.263C>T
    HGVSg: CHROMOSOME_III:g.11191847G>A
  Sequence_details: SMap: S_parent: Sequence: Y47D3A
    Flanking_sequences: ttcccccgtcacatcaaactttgagcaatc tctgcagctgagcccaccggcagaagcttc
    Mapping_target: Y47D3A
    Type_of_mutation: Substitution: c t Paper_evidence: WBPaper00002121
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Laboratory: CB
    Status: Live
  Affects: Gene: WBGene00006604
      WBGene00305760
    Transcript: Y48A6C.12
      Y47D3A.6b.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        SIFT: 0 deleterious_low_confidence
        PolyPhen: 0.997 probably_damaging
        HGVSc: Y47D3A.6b.1:c.263C>T
        HGVSp: CE52664:p.Pro88Leu
        cDNA_position: 401
        CDS_position: 263
        Protein_position: 88
        Exon_number: 5/10
        Codon_change: cCt/cTt
        Amino_acid_change: P/L
      Y47D3A.6a.1 (12)
  Genetics: Interpolated_map_position: III 6.94309
  Reference: WBPaper00002121
  Method: Substitution_allele