WormBase Tree Display for Variation: WBVar02128317

WBVar02128317 Evidence: Paper_evidence: WBPaper00045317
  Name: Public_name: h17237
    Other_name: CE40346:p.Leu744Phe
      B0379.3b.1:c.2218C>T
      B0379.3a.1:c.2230C>T
      CE40347:p.Leu740Phe
    HGVSg: CHROMOSOME_I:g.10083983C>T
  Sequence_details: SMap: S_parent: Sequence: B0379
    Flanking_sequences: TGCACCATATATCCCTCAACAGCCAACATATCAGCCACAG TTCCTGTACAACAACCTCAACCACATCAATATGCGCCTCA
    Mapping_target: CHROMOSOME_I
    Source_location: 200 CHROMOSOME_I 10083971 10083971
    Type_of_mutation: Substitution: C T
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00023866
    Laboratory: KR
    Analysis: WGS_Rose
    Status: Live
  Affects: Gene: WBGene00003508
    Transcript: B0379.3a.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        SIFT: 0.11 tolerated_low_confidence
        PolyPhen: 0.915 possibly_damaging
        HGVSc: B0379.3a.1:c.2230C>T
        HGVSp: CE40346:p.Leu744Phe
        cDNA_position: 2233
        CDS_position: 2230
        Protein_position: 744
        Exon_number: 13/16
        Codon_change: Ctt/Ttt
        Amino_acid_change: L/F
      B0379.3b.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        SIFT: 0.11 tolerated_low_confidence
        PolyPhen: 0.915 possibly_damaging
        HGVSc: B0379.3b.1:c.2218C>T
        HGVSp: CE40347:p.Leu740Phe
        cDNA_position: 2221
        CDS_position: 2218
        Protein_position: 740
        Exon_number: 13/16
        Codon_change: Ctt/Ttt
        Amino_acid_change: L/F
  Reference: WBPaper00040589
    WBPaper00000975
    WBPaper00003985
    WBPaper00000699
    WBPaper00045317
  Method: WGS_Rose