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WormBase Tree Display for Variation: WBVar00143840

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Name Class

WBVar00143840EvidencePaper_evidenceWBPaper00004695
NamePublic_namee1217
Other_nameC04F6.4a.1:c.1037G>A
CE03924:p.Gly346Glu
HGVSgCHROMOSOME_X:g.3409755C>T
Sequence_detailsSMapS_parentSequenceC04F6
Flanking_sequencesgaaaaactcttttcagtgctgatgctgaagacatattagtgagtagtttcagtgcttcga
Mapping_targetC04F6
Type_of_mutationSubstitutionga
SeqStatusSequenced
Variation_typeAllele
OriginSpeciesCaenorhabditis elegans
StrainWBStrain00004274
WBStrain00006316
WBStrain00026896
WBStrain00033511
LaboratoryCB
StatusLive
AffectsGeneWBGene00006810
TranscriptC04F6.4a.1 (12)
InteractorWBInteraction000518612
WBInteraction000519181
GeneticsInterpolated_map_positionX-10.3445
Mapping_dataIn_multi_point (11)
In_pos_neg_data (15)
DescriptionPhenotypeWBPhenotype:0000509Paper_evidenceWBPaper00000536
Curator_confirmedWBPerson712
RemarkOnly 1.4% of sperm have pseudopods, all of which have normal morphology; sperm were from hemizygous males.Paper_evidenceWBPaper00000536
Curator_confirmedWBPerson712
EQ_annotationsAnatomy_termWBbt:0006798PATO:0000460Paper_evidenceWBPaper00000536
Curator_confirmedWBPerson712
WBPhenotype:0000553Person_evidenceWBPerson261
Curator_confirmedWBPerson712
Remarkabnormal body muscle birefringencePerson_evidenceWBPerson261
Curator_confirmedWBPerson712
WBPhenotype:0000646Person_evidenceWBPerson261
Curator_confirmedWBPerson712
RemarkES2 ME0Person_evidenceWBPerson261
Curator_confirmedWBPerson712
Ease_of_scoringES2_Difficult_to_scorePerson_evidenceWBPerson261
Curator_confirmedWBPerson712
WBPhenotype:0000781Person_evidenceWBPerson261
Curator_confirmedWBPerson712
Remarkabnormal muscle ultrastructure with large aggregates of thin filamentsPerson_evidenceWBPerson261
Curator_confirmedWBPerson712
WBPhenotype:0000904Person_evidenceWBPerson261
Curator_confirmedWBPerson712
Remarkabnormal muscle ultrastructurePerson_evidenceWBPerson261
Curator_confirmedWBPerson712
Phenotype_not_observedWBPhenotype:0001426Paper_evidenceWBPaper00004883
Curator_confirmedWBPerson712
Phenotype_assayGenotypearIs37Paper_evidenceWBPaper00004883
Curator_confirmedWBPerson712
ReferenceWBPaper00004883
WBPaper00000536
WBPaper00015999
WBPaper00010561
MethodSubstitution_allele