WormBase Tree Display for Variation: WBVar00144307
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WBVar00144307 | Evidence | Paper_evidence | WBPaper00005214 | ||||||
---|---|---|---|---|---|---|---|---|---|
Name | Public_name | e1795 | |||||||
Other_name | C53A5.3.1:c.557G>A | ||||||||
CE08952:p.Gly186Glu | |||||||||
HGVSg | CHROMOSOME_V:g.14526055G>A | ||||||||
Sequence_details | SMap | S_parent | Sequence | C53A5 | |||||
Flanking_sequences | acgtcgatattgatgttcatcacggagatg | agtagaggaggcgttctatacgactgatcg | |||||||
Mapping_target | C53A5 | ||||||||
Type_of_mutation | Substitution | g | a | Paper_evidence | WBPaper00005214 | ||||
SeqStatus | Sequenced | ||||||||
Variation_type | Allele | ||||||||
Origin | Species | Caenorhabditis elegans | |||||||
Strain | WBStrain00004649 | ||||||||
Laboratory | CB | ||||||||
Status | Live | ||||||||
Affects | Gene | WBGene00001834 | |||||||
Transcript | C53A5.3.1 (12) | ||||||||
Interactor | WBInteraction000520076 | ||||||||
Genetics | Interpolated_map_position | V | 6.43815 | ||||||
Mapping_data | In_multi_point | 3379 | |||||||
Description | Phenotype | WBPhenotype:0000073 | Person_evidence | WBPerson261 | |||||
Curator_confirmed | WBPerson712 | ||||||||
Remark | variable tail malformation | Person_evidence | WBPerson261 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
WBPhenotype:0000220 | Paper_evidence | WBPaper00043890 | |||||||
Curator_confirmed | WBPerson12222 | ||||||||
Penetrance | High | Paper_evidence | WBPaper00043890 | ||||||
Curator_confirmed | WBPerson12222 | ||||||||
Recessive | Paper_evidence | WBPaper00043890 | |||||||
Curator_confirmed | WBPerson12222 | ||||||||
Variation_effect | Null | Paper_evidence | WBPaper00043890 | ||||||
Curator_confirmed | WBPerson12222 | ||||||||
WBPhenotype:0000283 | Paper_evidence | WBPaper00043890 | |||||||
Curator_confirmed | WBPerson12222 | ||||||||
Penetrance | High | Paper_evidence | WBPaper00043890 | ||||||
Curator_confirmed | WBPerson12222 | ||||||||
Recessive | Paper_evidence | WBPaper00043890 | |||||||
Curator_confirmed | WBPerson12222 | ||||||||
Variation_effect | Null | Paper_evidence | WBPaper00043890 | ||||||
Curator_confirmed | WBPerson12222 | ||||||||
WBPhenotype:0000405 | Person_evidence | WBPerson261 | |||||||
Curator_confirmed | WBPerson712 | ||||||||
Remark | apparent giant oocytes | Person_evidence | WBPerson261 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
WBPhenotype:0000688 | Person_evidence | WBPerson261 | |||||||
Curator_confirmed | WBPerson712 | ||||||||
Remark | sterile | Person_evidence | WBPerson261 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
WBPhenotype:0000695 | Paper_evidence | WBPaper00043890 | |||||||
Curator_confirmed | WBPerson12222 | ||||||||
Penetrance | High | Paper_evidence | WBPaper00043890 | ||||||
Curator_confirmed | WBPerson12222 | ||||||||
Recessive | Paper_evidence | WBPaper00043890 | |||||||
Curator_confirmed | WBPerson12222 | ||||||||
Variation_effect | Null | Paper_evidence | WBPaper00043890 | ||||||
Curator_confirmed | WBPerson12222 | ||||||||
WBPhenotype:0000697 | Paper_evidence | WBPaper00043890 | |||||||
Curator_confirmed | WBPerson12222 | ||||||||
Penetrance | High | Paper_evidence | WBPaper00043890 | ||||||
Curator_confirmed | WBPerson12222 | ||||||||
Recessive | Paper_evidence | WBPaper00043890 | |||||||
Curator_confirmed | WBPerson12222 | ||||||||
Variation_effect | Null | Paper_evidence | WBPaper00043890 | ||||||
Curator_confirmed | WBPerson12222 | ||||||||
WBPhenotype:0000977 | Person_evidence | WBPerson261 | |||||||
Curator_confirmed | WBPerson712 | ||||||||
Remark | additional non-gonadal somatic abnormalities | Person_evidence | WBPerson261 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
WBPhenotype:0001355 | Person_evidence | WBPerson261 | |||||||
Curator_confirmed | WBPerson712 | ||||||||
Remark | hermaphrodites have very abnormal swollen proximal gonad | Person_evidence | WBPerson261 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
EQ_annotations | Life_stage | WBls:0000057 | PATO:0000460 | Person_evidence | WBPerson261 | ||||
Curator_confirmed | WBPerson712 | ||||||||
Reference | WBPaper00005214 | ||||||||
WBPaper00043890 | |||||||||
Method | Substitution_allele |