WormBase Tree Display for Variation: WBVar02153225

WBVar02153225 Evidence: Person_evidence: WBPerson41981
  Name: Public_name: cer14
    Other_name: C50C3.6.1:c.6904_6907del
      CE00122:p.His2302GlyfsTer35
    HGVSg: CHROMOSOME_III:g.8172165_8172168del
  Sequence_details: SMap: S_parent: Sequence: C50C3
    Flanking_sequences: tctaatccaaaggagtactatcatgaagat ggccggttcacttccataactttaaggtat
    Mapping_target: C50C3
    Type_of_mutation: Deletion
    SeqStatus: Sequenced
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00048025
    Laboratory: CER
    Person: WBPerson41981
    Status: Live
  Affects: Gene: WBGene00004187
    Transcript: C50C3.6.1 VEP_consequence: frameshift_variant
        VEP_impact: HIGH
        HGVSc: C50C3.6.1:c.6904_6907del
        HGVSp: CE00122:p.His2302GlyfsTer35
        cDNA_position: 6908-6911
        CDS_position: 6904-6907
        Protein_position: 2302-2303
        Exon_number: 10/12
        Codon_change: CATCgg/gg
        Amino_acid_change: HR/X
  Description: Phenotype: WBPhenotype:0000031 Paper_evidence: WBPaper00059062
        Curator_confirmed: WBPerson41981
      WBPhenotype:0000154 Paper_evidence: WBPaper00059062
        Curator_confirmed: WBPerson41981
      WBPhenotype:0000688 Paper_evidence: WBPaper00059062
        Curator_confirmed: WBPerson41981
  Disease_info: Models_disease: DOID:0110403
    Models_disease_in_annotation: WBDOannot00001205
      WBDOannot00001209
  Reference: WBPaper00059062
  Remark: indel strain CATC_del G_ins which results in deletion of His at 2302 position
    Details provided: alt_det = G mut_det = H2302del
  Method: Allele