WormBase Tree Display for Variation: WBVar00054092

WBVar00054092 Evidence: Paper_evidence: WBPaper00031115
  Name: Public_name: ce367
    Other_name (17)
    HGVSg: CHROMOSOME_I:g.4003297_4003302del
  Sequence_details: SMap: S_parent: Sequence: F55C7
    Flanking_sequences: gatattctcaagttcaccgaacgagcaaag accgatacgcttaagaaagcgttacaggtg
    Mapping_target: F55C7
    Type_of_mutation: Deletion: gataag Paper_evidence: WBPaper00031115
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Laboratory: KG
    Status: Live
  Affects: Gene: WBGene00006805
    Transcript: F55C7.7i.1 VEP_consequence: inframe_deletion
        VEP_impact: MODERATE
        HGVSc: F55C7.7i.1:c.5893_5898del
        HGVSp: CE36937:p.Asp1965_Lys1966del
        cDNA_position: 5893-5898
        CDS_position: 5893-5898
        Protein_position: 1965-1966
        Exon_number: 22/26
        Codon_change: GATAAG/-
        Amino_acid_change: DK/-
      F55C7.7g.1 VEP_consequence: inframe_deletion
        VEP_impact: MODERATE
        HGVSc: F55C7.7g.1:c.1213_1218del
        HGVSp: CE43442:p.Asp405_Lys406del
        cDNA_position: 1586-1591
        CDS_position: 1213-1218
        Protein_position: 405-406
        Exon_number: 7/11
        Codon_change: GATAAG/-
        Amino_acid_change: DK/-
      F55C7.7e.1 VEP_consequence: inframe_deletion
        VEP_impact: MODERATE
        HGVSc: F55C7.7e.1:c.1198_1203del
        HGVSp: CE29398:p.Asp400_Lys401del
        cDNA_position: 1205-1210
        CDS_position: 1198-1203
        Protein_position: 400-401
        Exon_number: 5/9
        Codon_change: GATAAG/-
        Amino_acid_change: DK/-
      F55C7.7d.1 VEP_consequence: inframe_deletion
        VEP_impact: MODERATE
        HGVSc: F55C7.7d.1:c.955_960del
        HGVSp: CE19467:p.Asp319_Lys320del
        cDNA_position: 1102-1107
        CDS_position: 955-960
        Protein_position: 319-320
        Exon_number: 4/8
        Codon_change: GATAAG/-
        Amino_acid_change: DK/-
      F55C7.7a.1 VEP_consequence: inframe_deletion
        VEP_impact: MODERATE
        HGVSc: F55C7.7a.1:c.5893_5898del
        HGVSp: CE19464:p.Asp1965_Lys1966del
        cDNA_position: 6005-6010
        CDS_position: 5893-5898
        Protein_position: 1965-1966
        Exon_number: 23/34
        Codon_change: GATAAG/-
        Amino_acid_change: DK/-
      F55C7.7f.1 VEP_consequence: inframe_deletion
        VEP_impact: MODERATE
        HGVSc: F55C7.7f.1:c.1330_1335del
        HGVSp: CE53753:p.Asp444_Lys445del
        cDNA_position: 1333-1338
        CDS_position: 1330-1335
        Protein_position: 444-445
        Exon_number: 7/18
        Codon_change: GATAAG/-
        Amino_acid_change: DK/-
      F55C7.7h.1 VEP_consequence: inframe_deletion
        VEP_impact: MODERATE
        HGVSc: F55C7.7h.1:c.1198_1203del
        HGVSp: CE43469:p.Asp400_Lys401del
        cDNA_position: 1198-1203
        CDS_position: 1198-1203
        Protein_position: 400-401
        Exon_number: 4/14
        Codon_change: GATAAG/-
        Amino_acid_change: DK/-
      F55C7.7c.1 VEP_consequence: inframe_deletion
        VEP_impact: MODERATE
        HGVSc: F55C7.7c.1:c.1213_1218del
        HGVSp: CE19466:p.Asp405_Lys406del
        cDNA_position: 1539-1544
        CDS_position: 1213-1218
        Protein_position: 405-406
        Exon_number: 7/18
        Codon_change: GATAAG/-
        Amino_acid_change: DK/-
      F55C7.7i.2 VEP_consequence: inframe_deletion
        VEP_impact: MODERATE
        HGVSc: F55C7.7i.2:c.5893_5898del
        HGVSp: CE36937:p.Asp1965_Lys1966del
        cDNA_position: 5893-5898
        CDS_position: 5893-5898
        Protein_position: 1965-1966
        Exon_number: 22/25
        Codon_change: GATAAG/-
        Amino_acid_change: DK/-
    Interactor: WBInteraction000052306
  Genetics: Interpolated_map_position: I -1.88327
  Description: Phenotype: WBPhenotype:0000006 Person_evidence: WBPerson423
        Curator_confirmed: WBPerson712
        Penetrance: Complete: Person_evidence: WBPerson423
              Curator_confirmed: WBPerson712
        Variation_effect: Hypomorph_reduction_of_function: Person_evidence: WBPerson423
            Curator_confirmed: WBPerson712
      WBPhenotype:0000640 Person_evidence: WBPerson423
        Curator_confirmed: WBPerson712
        Penetrance: Complete: Person_evidence: WBPerson423
              Curator_confirmed: WBPerson712
        Variation_effect: Hypomorph_reduction_of_function: Person_evidence: WBPerson423
            Curator_confirmed: WBPerson712
      WBPhenotype:0000646 Person_evidence: WBPerson423
        Curator_confirmed: WBPerson712
        Penetrance: Complete: Person_evidence: WBPerson423
              Curator_confirmed: WBPerson712
        Variation_effect: Hypomorph_reduction_of_function: Person_evidence: WBPerson423
            Curator_confirmed: WBPerson712
  Reference: WBPaper00031115
  Method: Deletion_allele