WormBase Tree Display for Variation: WBVar02126223

WBVar02126223 Evidence: Paper_evidence: WBPaper00045317
  Name: Public_name: h14743
    Other_name: Y48G8AL.1a.1:c.2346+137C>G
      Y48G8AL.1b.1:c.1353+137C>G
      Y48G8AL.1d.1:c.801+137C>G
      Y48G8AL.1c.1:c.1218+137C>G
      Y48G8AL.1a.2:c.2346+137C>G
    HGVSg: CHROMOSOME_I:g.1245529C>G
  Sequence_details: SMap: S_parent: Sequence: Y48G8AL
    Flanking_sequences: CTTGCTTTGTTTTCCGCCTATTTTCTTTCGTTTTTCACAG TTTTTCCTGTTTTTTCTTAATAAAACTGATAAATAAATAT
    Mapping_target: CHROMOSOME_I
    Source_location: 200 CHROMOSOME_I 1245530 1245530
    Type_of_mutation: Substitution: C G
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00023781
    Laboratory: KR
    Analysis: WGS_Rose
    Status: Live
  Affects: Gene: WBGene00021685
    Transcript: Y48G8AL.1b.1 VEP_consequence: intron_variant
        VEP_impact: MODIFIER
        HGVSc: Y48G8AL.1b.1:c.1353+137C>G
        Intron_number: 9/12
      Y48G8AL.1c.1 VEP_consequence: intron_variant
        VEP_impact: MODIFIER
        HGVSc: Y48G8AL.1c.1:c.1218+137C>G
        Intron_number: 8/11
      Y48G8AL.1a.2 VEP_consequence: intron_variant
        VEP_impact: MODIFIER
        HGVSc: Y48G8AL.1a.2:c.2346+137C>G
        Intron_number: 15/19
      Y48G8AL.1a.1 VEP_consequence: intron_variant
        VEP_impact: MODIFIER
        HGVSc: Y48G8AL.1a.1:c.2346+137C>G
        Intron_number: 15/19
      Y48G8AL.1d.1 VEP_consequence: intron_variant
        VEP_impact: MODIFIER
        HGVSc: Y48G8AL.1d.1:c.801+137C>G
        Intron_number: 6/9
  Reference: WBPaper00040589
    WBPaper00000975
    WBPaper00003985
    WBPaper00000699
    WBPaper00045317
  Method: WGS_Rose