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WormBase Tree Display for Variation: WBVar01472570

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Name Class

WBVar01472570EvidencePaper_evidenceWBPaper00040707
NamePublic_nameWBVar01472570
Other_nameCE43213:p.Leu667=
C44H4.2.1:c.2001A>G
C44H4.4.1:c.2215+3905T>C
HGVSgCHROMOSOME_X:g.14580450A>G
Sequence_detailsSMapS_parentSequenceC44H4
Flanking_sequencesCAAGAGTGAGCACATTGACGAATTCGCTCTGCTTCTTCAAATTCCAATGAGCCAACTCTC
Mapping_targetC44H4
Type_of_mutationSubstitutionag
SeqStatusSequenced
Variation_typeSNP
Natural_variant
OriginSpeciesCaenorhabditis elegans
StrainWBStrain00031279From_analysisWGS_Andersen
WBStrain00031284From_analysisWGS_Andersen
LaboratoryQX
PersonWBPerson1730
AnalysisWGS_Andersen
DB_infoDatabasedbSNP_rsrs193357872
dbSNP_ssss295533791
StatusLive
AffectsGeneWBGene00002282
WBGene00008094
TranscriptC44H4.4.1VEP_consequenceintron_variant
VEP_impactMODIFIER
HGVScC44H4.4.1:c.2215+3905T>C
Intron_number15/20
C44H4.2.1VEP_consequencesynonymous_variant
VEP_impactLOW
HGVScC44H4.2.1:c.2001A>G
HGVSpCE43213:p.Leu667=
cDNA_position2097
CDS_position2001
Protein_position667
Exon_number9/11
Codon_changectA/ctG
Amino_acid_changeL
ReferenceWBPaper00040707
MethodWGS_Andersen