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WormBase Tree Display for Variation: WBVar00145039

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Name Class

WBVar00145039EvidencePaper_evidenceWBPaper00031667
NamePublic_namee2892
Other_nameCE54583:p.Asp30Asn
T23F2.1a.1:c.46G>A
CE28488:p.Asp16Asn
T23F2.1b.1:c.88G>A
HGVSgCHROMOSOME_X:g.5493805G>A
Sequence_detailsSMapS_parentSequenceT23F2
Flanking_sequencesgtccatcctgaacaatggaacgggggctccatcggtgcaccgttgcccttatcagacatt
Mapping_targetT23F2
Type_of_mutationSubstitutiongaPaper_evidenceWBPaper00031667
SeqStatusSequenced
Variation_typeAllele
OriginSpeciesCaenorhabditis elegans
LaboratoryCB
StatusLive
AffectsGeneWBGene00044623
TranscriptT23F2.1b.1VEP_consequencemissense_variant
VEP_impactMODERATE
HGVScT23F2.1b.1:c.88G>A
HGVSpCE54583:p.Asp30Asn
cDNA_position88
CDS_position88
Protein_position30
Exon_number2/9
Codon_changeGat/Aat
Amino_acid_changeD/N
T23F2.1a.1 (12)
GeneticsInterpolated_map_positionX-5.24276
DescriptionPhenotypeWBPhenotype:0000050Paper_evidenceWBPaper00031667
Curator_confirmedWBPerson712
Remark100% embryonic lethalPaper_evidenceWBPaper00031667
Curator_confirmedWBPerson712
PenetranceCompletePaper_evidenceWBPaper00031667
Curator_confirmedWBPerson712
ReferenceWBPaper00031667
MethodSubstitution_allele