WormBase Tree Display for Variation: WBVar02140602

WBVar02140602 Evidence: Paper_evidence: WBPaper00045317
  Name: Public_name: h11150
    Other_name: CE54544:p.Glu48Lys
      T04C10.4.1:c.-64G>A
      T04C10.11.1:c.142G>A
      T04C10.11.2:c.142G>A
    HGVSg: CHROMOSOME_X:g.14810605C>T
  Sequence_details: SMap: S_parent: Sequence: T04C10
    Flanking_sequences: ATGCATGACCCGTAGGCTCAACAAACACAGCACGTGATTT CTGGAAAGGATCATTGTTTAAACTAATTATTAATCAATTA
    Mapping_target: CHROMOSOME_X
    Source_location: 200 CHROMOSOME_X 14810526 14810526
    Type_of_mutation: Substitution: C T
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00023707
    Laboratory: KR
    Analysis: WGS_Rose
    Status: Live
  Affects: Gene: WBGene00303075
      WBGene00000221
    Transcript: T04C10.11.1 VEP_consequence: missense_variant,splice_region_variant
        VEP_impact: MODERATE
        HGVSc: T04C10.11.1:c.142G>A
        HGVSp: CE54544:p.Glu48Lys
        cDNA_position: 187
        CDS_position: 142
        Protein_position: 48
        Exon_number: 3/5
        Codon_change: Gaa/Aaa
        Amino_acid_change: E/K
      T04C10.4.1 VEP_consequence: 5_prime_UTR_variant
        VEP_impact: MODIFIER
        HGVSc: T04C10.4.1:c.-64G>A
        cDNA_position: 199
        Exon_number: 1/5
      T04C10.11.2 VEP_consequence: missense_variant,splice_region_variant
        VEP_impact: MODERATE
        HGVSc: T04C10.11.2:c.142G>A
        HGVSp: CE54544:p.Glu48Lys
        cDNA_position: 162
        CDS_position: 142
        Protein_position: 48
        Exon_number: 3/4
        Codon_change: Gaa/Aaa
        Amino_acid_change: E/K
  Reference: WBPaper00040589
    WBPaper00000975
    WBPaper00003985
    WBPaper00000699
    WBPaper00045317
  Method: WGS_Rose