WormBase Tree Display for Variation: WBVar00092762
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WBVar00092762 | Evidence | Person_evidence | WBPerson2171 | ||||||
---|---|---|---|---|---|---|---|---|---|
Name | Public_name | ok1552 | |||||||
HGVSg | CHROMOSOME_I:g.1595793_1597066del | ||||||||
Sequence_details | SMap | S_parent | Sequence | Y73E7A | |||||
Flanking_sequences | tggagcgcgaaaaattcaatgaggaaggca | ccaaaaaatgtgacgtcagcacgttcttaa | |||||||
Mapping_target | Y73E7A | ||||||||
Type_of_mutation | Deletion | ||||||||
PCR_product | OK1552_external | ||||||||
OK1552_internal | |||||||||
SeqStatus | Sequenced | ||||||||
Variation_type | Allele | ||||||||
Origin | Species | Caenorhabditis elegans | |||||||
Strain | WBStrain00032066 | ||||||||
Laboratory | RB | ||||||||
Person | WBPerson46 | ||||||||
KO_consortium_allele | |||||||||
Status | Live | ||||||||
Affects | Gene | WBGene00022271 | |||||||
Transcript | Y73E7A.4.1 | VEP_consequence | splice_donor_variant,coding_sequence_variant,5_prime_UTR_variant,intron_variant | ||||||
VEP_impact | HIGH | ||||||||
Intron_number | 2/3 | ||||||||
Exon_number | 1-2/4 | ||||||||
Genetics | Mapping_data | In_multi_point | 5373 | ||||||
Description | Phenotype | WBPhenotype:0000016 | Paper_evidence | WBPaper00037990 | |||||
Person_evidence | WBPerson2171 | ||||||||
Curator_confirmed | WBPerson712 | ||||||||
WBPerson2171 | |||||||||
Penetrance | Complete | Person_evidence | WBPerson2171 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
Recessive | Person_evidence | WBPerson2171 | |||||||
Curator_confirmed | WBPerson712 | ||||||||
Affected_by | Molecule | WBMol:00003650 | Paper_evidence | WBPaper00037990 | |||||
Person_evidence | WBPerson2171 | ||||||||
Curator_confirmed | WBPerson712 | ||||||||
WBPerson2171 | |||||||||
EQ_annotations | Anatomy_term | WBbt:0007833 | PATO:0001549 | Person_evidence | WBPerson2171 | ||||
Curator_confirmed | WBPerson712 | ||||||||
WBPhenotype:0000500 | Paper_evidence | WBPaper00037987 | |||||||
Curator_confirmed | WBPerson6553 | ||||||||
WBPhenotype:0000643 | Person_evidence | WBPerson2171 | |||||||
Curator_confirmed | WBPerson712 | ||||||||
Penetrance | Complete | Person_evidence | WBPerson2171 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
Recessive | Person_evidence | WBPerson2171 | |||||||
Curator_confirmed | WBPerson712 | ||||||||
Reference | WBPaper00037990 | ||||||||
WBPaper00037987 | |||||||||
Remark | Allele sequenced by Robert J. Hobson | Curator_confirmed | WBPerson2970 | ||||||
Sequenced by the C. elegans Gene Knockout Consortium | Paper_evidence | WBPaper00041807 | |||||||
Method | KO_consortium_allele |