WormBase Tree Display for Variation: WBVar00094783
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WBVar00094783 | Evidence | Paper_evidence | WBPaper00005236 | |||||
---|---|---|---|---|---|---|---|---|
Person_evidence | WBPerson1705 | |||||||
Name | Public_name | ot19 | ||||||
Other_name | Y34B4A.8f.1:c.10+603G>A | |||||||
Y34B4A.8a.1:c.-6+603G>A | ||||||||
CE32011:p.His85Tyr | ||||||||
Y34B4A.8c.1:c.139+603G>A | ||||||||
Y34B4A.8b.2:c.-631G>A | ||||||||
Y34B4A.8e.1:c.139+603G>A | ||||||||
Y34B4A.8g.1:c.10+603G>A | ||||||||
Y34B4A.3.1:c.253C>T | ||||||||
Y34B4A.8b.3:c.-6+603G>A | ||||||||
HGVSg | CHROMOSOME_X:g.5275913C>T | |||||||
Sequence_details | SMap | S_parent | Sequence | Y34B4A | ||||
Flanking_sequences | aaaacctccaacgatgtcatcgtctttgtg | acatacaaaaaacggcgggcacaacattcg | ||||||
Mapping_target | Y34B4A | |||||||
Type_of_mutation | Substitution | c | t | |||||
SeqStatus | Sequenced | |||||||
Variation_type | Allele | |||||||
Origin | Species | Caenorhabditis elegans | ||||||
Strain | WBStrain00029330 | |||||||
Laboratory | OH | |||||||
Status | Live | |||||||
Affects | Gene | WBGene00002031 | ||||||
WBGene00021324 | ||||||||
Transcript | Y34B4A.8g.1 | VEP_consequence | intron_variant | |||||
VEP_impact | MODIFIER | |||||||
HGVSc | Y34B4A.8g.1:c.10+603G>A | |||||||
Intron_number | 1/13 | |||||||
Y34B4A.8c.1 | VEP_consequence | intron_variant | ||||||
VEP_impact | MODIFIER | |||||||
HGVSc | Y34B4A.8c.1:c.139+603G>A | |||||||
Intron_number | 3/16 | |||||||
Y34B4A.8e.1 | VEP_consequence | intron_variant | ||||||
VEP_impact | MODIFIER | |||||||
HGVSc | Y34B4A.8e.1:c.139+603G>A | |||||||
Intron_number | 3/15 | |||||||
Y34B4A.3.1 (12) | ||||||||
Y34B4A.8b.2 | VEP_consequence | 5_prime_UTR_variant | ||||||
VEP_impact | MODIFIER | |||||||
HGVSc | Y34B4A.8b.2:c.-631G>A | |||||||
cDNA_position | 1018 | |||||||
Exon_number | 2/16 | |||||||
Y34B4A.8a.1 | VEP_consequence | intron_variant | ||||||
VEP_impact | MODIFIER | |||||||
HGVSc | Y34B4A.8a.1:c.-6+603G>A | |||||||
Intron_number | 2/16 | |||||||
Y34B4A.8f.1 | VEP_consequence | intron_variant | ||||||
VEP_impact | MODIFIER | |||||||
HGVSc | Y34B4A.8f.1:c.10+603G>A | |||||||
Intron_number | 1/13 | |||||||
Y34B4A.8b.3 | VEP_consequence | intron_variant | ||||||
VEP_impact | MODIFIER | |||||||
HGVSc | Y34B4A.8b.3:c.-6+603G>A | |||||||
Intron_number | 1/15 | |||||||
Interactor | WBInteraction000052329 | |||||||
Isolation | Mutagen | EMS | ||||||
Genetics | Interpolated_map_position | X | -5.87472 | |||||
Description | Phenotype | WBPhenotype:0000180 | Paper_evidence | WBPaper00005236 | ||||
Person_evidence | WBPerson1705 | |||||||
Curator_confirmed | WBPerson48 | |||||||
Penetrance | Incomplete | Paper_evidence | WBPaper00005236 | |||||
Person_evidence | WBPerson1705 | |||||||
Curator_confirmed | WBPerson48 | |||||||
Recessive (3) | ||||||||
Variation_effect | Loss_of_function_undetermined_extent | Paper_evidence | WBPaper00005236 | |||||
Person_evidence | WBPerson1705 | |||||||
Curator_confirmed | WBPerson48 | |||||||
WBPhenotype:0000384 | Paper_evidence | WBPaper00006471 | ||||||
Curator_confirmed | WBPerson2021 | |||||||
Remark | Axonal patterning defects | Paper_evidence | WBPaper00006471 | |||||
Curator_confirmed | WBPerson2021 | |||||||
Variation_effect | Probable_null_via_phenotype | Paper_evidence | WBPaper00006471 | |||||
Curator_confirmed | WBPerson2021 | |||||||
Phenotype_not_observed | WBPhenotype:0000062 | Paper_evidence | WBPaper00005236 | |||||
WBPaper00006471 | ||||||||
Person_evidence | WBPerson1705 | |||||||
Curator_confirmed | WBPerson48 | |||||||
WBPerson2021 | ||||||||
Remark | Non-lethal | Paper_evidence | WBPaper00006471 | |||||
Curator_confirmed | WBPerson2021 | |||||||
Variation_effect | Probable_null_via_phenotype | Paper_evidence | WBPaper00006471 | |||||
Curator_confirmed | WBPerson2021 | |||||||
WBPhenotype:0000688 | Paper_evidence | WBPaper00005236 | ||||||
WBPaper00006471 | ||||||||
Person_evidence | WBPerson1705 | |||||||
Curator_confirmed | WBPerson48 | |||||||
WBPerson2021 | ||||||||
Remark | Non-sterile | Paper_evidence | WBPaper00006471 | |||||
Curator_confirmed | WBPerson2021 | |||||||
Variation_effect | Probable_null_via_phenotype | Paper_evidence | WBPaper00006471 | |||||
Curator_confirmed | WBPerson2021 | |||||||
Reference | WBPaper00005236 | |||||||
WBPaper00006471 | ||||||||
Remark | Changes an absolutely conserved H to Y in the cofactor binding site | Person_evidence | WBPerson1705 | |||||
Method | Substitution_allele |