WormBase Tree Display for Variation: WBVar00088335
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WBVar00088335 | Evidence | Paper_evidence | WBPaper00003386 | ||||||
---|---|---|---|---|---|---|---|---|---|
Name | Public_name | ku205 | |||||||
Other_name | T22B7.1d.1:c.-554+1G>T | ||||||||
T22B7.1b.3:c.-76+1G>T | |||||||||
T22B7.1d.2:c.-554+1G>T | |||||||||
T22B7.1c.1:c.243+1G>T | |||||||||
T22B7.1a.3:c.387+1G>T | |||||||||
T22B7.1a.1:c.387+1G>T | |||||||||
T22B7.1e.1:c.291+1G>T | |||||||||
T22B7.1b.2:c.-76+1G>T | |||||||||
T22B7.1a.2:c.387+1G>T | |||||||||
T22B7.1b.1:c.-76+1G>T | |||||||||
HGVSg | CHROMOSOME_X:g.5671601G>T | ||||||||
Sequence_details | SMap | S_parent | Sequence | T22B7 | |||||
Flanking_sequences | caagatctattatcagacgttatccgacag | tattttaagttacatctcgtgaaagcgatt | |||||||
Mapping_target | T22B7 | ||||||||
Type_of_mutation | Substitution | g | t | ||||||
SeqStatus | Sequenced | ||||||||
Variation_type | Allele | ||||||||
Origin | Species | Caenorhabditis elegans | |||||||
Laboratory | MH | ||||||||
Status | Live | ||||||||
Affects | Gene | WBGene00001182 | |||||||
Transcript | T22B7.1e.1 | VEP_consequence | splice_donor_variant | ||||||
VEP_impact | HIGH | ||||||||
HGVSc | T22B7.1e.1:c.291+1G>T | ||||||||
Intron_number | 3/8 | ||||||||
T22B7.1d.1 | VEP_consequence | splice_donor_variant | |||||||
VEP_impact | HIGH | ||||||||
HGVSc | T22B7.1d.1:c.-554+1G>T | ||||||||
Intron_number | 3/9 | ||||||||
T22B7.1d.2 | VEP_consequence | splice_donor_variant | |||||||
VEP_impact | HIGH | ||||||||
HGVSc | T22B7.1d.2:c.-554+1G>T | ||||||||
Intron_number | 2/8 | ||||||||
T22B7.1a.3 | VEP_consequence | splice_donor_variant | |||||||
VEP_impact | HIGH | ||||||||
HGVSc | T22B7.1a.3:c.387+1G>T | ||||||||
Intron_number | 6/12 | ||||||||
T22B7.1b.2 | VEP_consequence | splice_donor_variant | |||||||
VEP_impact | HIGH | ||||||||
HGVSc | T22B7.1b.2:c.-76+1G>T | ||||||||
Intron_number | 3/10 | ||||||||
T22B7.1b.1 | VEP_consequence | splice_donor_variant | |||||||
VEP_impact | HIGH | ||||||||
HGVSc | T22B7.1b.1:c.-76+1G>T | ||||||||
Intron_number | 3/10 | ||||||||
T22B7.1a.1 | VEP_consequence | splice_donor_variant | |||||||
VEP_impact | HIGH | ||||||||
HGVSc | T22B7.1a.1:c.387+1G>T | ||||||||
Intron_number | 6/12 | ||||||||
T22B7.1b.3 | VEP_consequence | splice_donor_variant | |||||||
VEP_impact | HIGH | ||||||||
HGVSc | T22B7.1b.3:c.-76+1G>T | ||||||||
Intron_number | 2/9 | ||||||||
T22B7.1a.2 | VEP_consequence | splice_donor_variant | |||||||
VEP_impact | HIGH | ||||||||
HGVSc | T22B7.1a.2:c.387+1G>T | ||||||||
Intron_number | 5/11 | ||||||||
T22B7.1c.1 | VEP_consequence | splice_donor_variant | |||||||
VEP_impact | HIGH | ||||||||
HGVSc | T22B7.1c.1:c.243+1G>T | ||||||||
Intron_number | 3/8 | ||||||||
Genetics | Interpolated_map_position | X | -4.4074 | ||||||
Description | Phenotype | WBPhenotype:0000006 | Paper_evidence | WBPaper00003386 | |||||
Curator_confirmed | WBPerson712 | ||||||||
Recessive | Paper_evidence | WBPaper00003386 | |||||||
Curator_confirmed | WBPerson712 | ||||||||
EQ_annotations | Life_stage | WBls:0000057 | PATO:0000460 | Paper_evidence | WBPaper00003386 | ||||
Curator_confirmed | WBPerson712 | ||||||||
WBPhenotype:0000695 | Paper_evidence | WBPaper00003386 | |||||||
Curator_confirmed | WBPerson712 | ||||||||
Recessive | Paper_evidence | WBPaper00003386 | |||||||
Curator_confirmed | WBPerson712 | ||||||||
EQ_annotations | Life_stage | WBls:0000057 | PATO:0000460 | Paper_evidence | WBPaper00003386 | ||||
Curator_confirmed | WBPerson712 | ||||||||
WBPhenotype:0004001 | Paper_evidence | WBPaper00003386 | |||||||
Curator_confirmed | WBPerson712 | ||||||||
Remark | Hermaphrodites fail to mate. | Paper_evidence | WBPaper00003386 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
EQ_annotations | Life_stage | WBls:0000057 | PATO:0000460 | Paper_evidence | WBPaper00003386 | ||||
Curator_confirmed | WBPerson712 | ||||||||
Phenotype_not_observed | WBPhenotype:0001414 | Paper_evidence | WBPaper00003386 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
EQ_annotations | Life_stage | WBls:0000056 | PATO:0000460 | Paper_evidence | WBPaper00003386 | ||||
Curator_confirmed | WBPerson712 | ||||||||
Reference | WBPaper00003386 | ||||||||
Remark | Manually curated Gene associations preserved as a text remark so that VEP is the canonical predictor of consequence: WBGene00001182 Donor | ||||||||
Method | Substitution_allele |