WormBase Tree Display for Variation: WBVar00144532
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WBVar00144532 | Evidence | Paper_evidence | WBPaper00001560 | ||||||
---|---|---|---|---|---|---|---|---|---|
WBPaper00000922 | |||||||||
Name | Public_name | e2063 | |||||||
Other_name | CE02953:p.Thr142Ile | ||||||||
C01F6.4a.1:c.425C>T | |||||||||
HGVSg | CHROMOSOME_IV:g.9105769C>T | ||||||||
Sequence_details | SMap | S_parent | Sequence | C01F6 | |||||
Flanking_sequences | aaaataaaattttaattttcagtcaaataa | tcgattcgagttgcaagatttgattcatcg | |||||||
Mapping_target | C01F6 | ||||||||
Type_of_mutation | Substitution | c | t | Paper_evidence | WBPaper00001560 | ||||
SeqStatus | Sequenced | ||||||||
Variation_type | Allele | ||||||||
Origin | Species | Caenorhabditis elegans | |||||||
Laboratory | CB | ||||||||
Status | Live | ||||||||
Affects | Gene | WBGene00001413 | |||||||
Transcript | C01F6.4a.1 | VEP_consequence | missense_variant | ||||||
VEP_impact | MODERATE | ||||||||
SIFT | 0.02 | deleterious_low_confidence | |||||||
PolyPhen | 0.9 | possibly_damaging | |||||||
HGVSc | C01F6.4a.1:c.425C>T | ||||||||
HGVSp | CE02953:p.Thr142Ile | ||||||||
cDNA_position | 661 | ||||||||
CDS_position | 425 | ||||||||
Protein_position | 142 | ||||||||
Exon_number | 4/8 | ||||||||
Codon_change | aCt/aTt | ||||||||
Amino_acid_change | T/I | ||||||||
Genetics | Interpolated_map_position | IV | 4.04899 | ||||||
Description | Phenotype | WBPhenotype:0000687 | Paper_evidence | WBPaper00000922 | |||||
Curator_confirmed | WBPerson2021 | ||||||||
Remark | XX animals are transformed into females. XO animals are transformed into fertile females with a good tail spike | Paper_evidence | WBPaper00000922 | ||||||
Curator_confirmed | WBPerson2021 | ||||||||
Recessive | Paper_evidence | WBPaper00000922 | |||||||
Curator_confirmed | WBPerson2021 | ||||||||
EQ_annotations | Life_stage | WBls:0000041 | PATO:0000460 | Paper_evidence | WBPaper00000922 | ||||
Curator_confirmed | WBPerson2021 | ||||||||
Maternal | |||||||||
Reference | WBPaper00000922 | ||||||||
Method | Substitution_allele |