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WormBase Tree Display for Variation: WBVar00146256

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Name Class

WBVar00146256NamePublic_namegk1050
HGVSgCHROMOSOME_V:g.1626667_1626822del
Sequence_detailsSMapS_parentSequenceY46H3D
Flanking_sequencesTTGTCAAAAAAGTACTACTCGTTGCTTCATAAAACAGGATAAATAATTGAATGATTGAAA
Mapping_targetY46H3D
CGH_deleted_probesAGTTTCTTCAATGGGTAAAATGGACCCATCGCTACGTTAAGATCCACTATATTCTCCACAGACCCTACAAATCTGATGAGGGGTAGGTATTTCCATCTGG
Type_of_mutationDeletion
PCR_productGK1050_external
GK1050_internal
SeqStatusSequenced
Deletion_verificationDiagnostic PCR validation equivocal, and CGH data confirm a smaller deletion than that identified by PCR.
Variation_typeAllele
OriginSpeciesCaenorhabditis elegans
StrainWBStrain00037071
LaboratoryVC
PersonWBPerson427
Detection_methodOligo Array CGH
StatusLive
AffectsGeneWBGene00021610
TranscriptY46H3D.6b.1VEP_consequencesplice_donor_variant,coding_sequence_variant,5_prime_UTR_variant,intron_variant
VEP_impactHIGH
Intron_number2/6
Exon_number1-2/7
Y46H3D.6a.1VEP_consequencesplice_donor_variant,coding_sequence_variant,5_prime_UTR_variant,intron_variant
VEP_impactHIGH
Intron_number1/5
Exon_number1/6
GeneticsInterpolated_map_positionV-17.8393
RemarkFlanking sequences represent the nearest array oligo sequences present in the deletion chromsome on the basis of fluorescence ratio. These should not be considered hard breakpoints in the absence of actual sequence data.
MethodDeletion_allele