WormBase Tree Display for Variation: WBVar02132023

WBVar02132023 Evidence: Paper_evidence: WBPaper00045317
  Name: Public_name: h15435
    Other_name (11)
    HGVSg: CHROMOSOME_III:g.5395351G>A
  Sequence_details: SMap: S_parent: Sequence: Y32H12A
    Flanking_sequences: AGTCTCAGGAAAGAACGGCACATTCAGATCTTCTTGACAC ATTCGAACAGATCCTCTTCAGAAGAGAACATATCAGAGTC
    Mapping_target: CHROMOSOME_III
    Source_location: 200 CHROMOSOME_III 5395309 5395309
    Type_of_mutation: Substitution: G A
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00023766
    Laboratory: KR
    Analysis: WGS_Rose
    Status: Live
  Affects: Gene: WBGene00021316
    Transcript: Y32H12A.8a.2 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        HGVSc: Y32H12A.8a.2:c.4931C>T
        HGVSp: CE42033:p.Ser1644Leu
        cDNA_position: 4975
        CDS_position: 4931
        Protein_position: 1644
        Exon_number: 19/38
        Codon_change: tCg/tTg
        Amino_acid_change: S/L
      Y32H12A.8d.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        HGVSc: Y32H12A.8d.1:c.4214C>T
        HGVSp: CE52981:p.Ser1405Leu
        cDNA_position: 4214
        CDS_position: 4214
        Protein_position: 1405
        Exon_number: 19/39
        Codon_change: tCg/tTg
        Amino_acid_change: S/L
      Y32H12A.8c.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        HGVSc: Y32H12A.8c.1:c.4202C>T
        HGVSp: CE53085:p.Ser1401Leu
        cDNA_position: 4202
        CDS_position: 4202
        Protein_position: 1401
        Exon_number: 19/39
        Codon_change: tCg/tTg
        Amino_acid_change: S/L
      Y32H12A.8a.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        HGVSc: Y32H12A.8a.1:c.4931C>T
        HGVSp: CE42033:p.Ser1644Leu
        cDNA_position: 4934
        CDS_position: 4931
        Protein_position: 1644
        Exon_number: 18/37
        Codon_change: tCg/tTg
        Amino_acid_change: S/L
      Y32H12A.8e.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        HGVSc: Y32H12A.8e.1:c.4190C>T
        HGVSp: CE53094:p.Ser1397Leu
        cDNA_position: 4190
        CDS_position: 4190
        Protein_position: 1397
        Exon_number: 18/38
        Codon_change: tCg/tTg
        Amino_acid_change: S/L
      Y32H12A.8b.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        HGVSc: Y32H12A.8b.1:c.4202C>T
        HGVSp: CE53114:p.Ser1401Leu
        cDNA_position: 4246
        CDS_position: 4202
        Protein_position: 1401
        Exon_number: 20/41
        Codon_change: tCg/tTg
        Amino_acid_change: S/L
  Reference: WBPaper00040589
    WBPaper00000975
    WBPaper00003985
    WBPaper00000699
    WBPaper00045317
  Method: WGS_Rose