WormBase Tree Display for Variation: WBVar00142936
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WBVar00142936 | Evidence | Paper_evidence | WBPaper00005582 | ||
---|---|---|---|---|---|
Name | Public_name | e53 | |||
Other_name | B0273.4f.1:c.62G>A | ||||
B0273.4d.1:c.524G>A | |||||
B0273.4b.1:c.848G>A | |||||
CE37693:p.Trp283Ter | |||||
CE49300:p.Trp21Ter | |||||
CE49241:p.Trp175Ter | |||||
B0273.4c.1:c.932G>A | |||||
B0273.4e.1:c.347G>A | |||||
B0273.4d.2:c.524G>A | |||||
B0273.4a.1:c.848G>A | |||||
CE16791:p.Trp311Ter | |||||
CE49455:p.Trp116Ter | |||||
CE16790:p.Trp283Ter | |||||
HGVSg | CHROMOSOME_IV:g.5499260C>T | ||||
Sequence_details | SMap | S_parent | Sequence | B0273 | |
Flanking_sequences | ttgatggaggatggagttcatggagtgatt | gagtgcttgctcttcgagttgtcatcggta | |||
Mapping_target | B0273 | ||||
Type_of_mutation | Substitution | g | a | ||
SeqStatus | Sequenced | ||||
Variation_type | Allele | ||||
Origin | Species | Caenorhabditis elegans | |||
Strain (49) | |||||
Laboratory | CB | ||||
Status | Live | ||||
Affects | Gene | WBGene00006745 | |||
Transcript | B0273.4f.1 | VEP_consequence | stop_gained | ||
VEP_impact | HIGH | ||||
HGVSc | B0273.4f.1:c.62G>A | ||||
HGVSp | CE49300:p.Trp21Ter | ||||
cDNA_position | 62 | ||||
CDS_position | 62 | ||||
Protein_position | 21 | ||||
Exon_number | 1/4 | ||||
Codon_change | tGg/tAg | ||||
Amino_acid_change | W/* | ||||
B0273.4e.1 | VEP_consequence | stop_gained | |||
VEP_impact | HIGH | ||||
HGVSc | B0273.4e.1:c.347G>A | ||||
HGVSp | CE49455:p.Trp116Ter | ||||
cDNA_position | 347 | ||||
CDS_position | 347 | ||||
Protein_position | 116 | ||||
Exon_number | 2/5 | ||||
Codon_change | tGg/tAg | ||||
Amino_acid_change | W/* | ||||
B0273.4c.1 | VEP_consequence | stop_gained | |||
VEP_impact | HIGH | ||||
HGVSc | B0273.4c.1:c.932G>A | ||||
HGVSp | CE16791:p.Trp311Ter | ||||
cDNA_position | 932 | ||||
CDS_position | 932 | ||||
Protein_position | 311 | ||||
Exon_number | 6/10 | ||||
Codon_change | tGg/tAg | ||||
Amino_acid_change | W/* | ||||
B0273.4a.1 | VEP_consequence | stop_gained | |||
VEP_impact | HIGH | ||||
HGVSc | B0273.4a.1:c.848G>A | ||||
HGVSp | CE16790:p.Trp283Ter | ||||
cDNA_position | 850 | ||||
CDS_position | 848 | ||||
Protein_position | 283 | ||||
Exon_number | 6/10 | ||||
Codon_change | tGg/tAg | ||||
Amino_acid_change | W/* | ||||
B0273.4d.2 | VEP_consequence | stop_gained | |||
VEP_impact | HIGH | ||||
HGVSc | B0273.4d.2:c.524G>A | ||||
HGVSp | CE49241:p.Trp175Ter | ||||
cDNA_position | 528 | ||||
CDS_position | 524 | ||||
Protein_position | 175 | ||||
Exon_number | 4/8 | ||||
Codon_change | tGg/tAg | ||||
Amino_acid_change | W/* | ||||
B0273.4b.1 | VEP_consequence | stop_gained | |||
VEP_impact | HIGH | ||||
HGVSc | B0273.4b.1:c.848G>A | ||||
HGVSp | CE37693:p.Trp283Ter | ||||
cDNA_position | 848 | ||||
CDS_position | 848 | ||||
Protein_position | 283 | ||||
Exon_number | 5/6 | ||||
Codon_change | tGg/tAg | ||||
Amino_acid_change | W/* | ||||
B0273.4d.1 | VEP_consequence | stop_gained | |||
VEP_impact | HIGH | ||||
HGVSc | B0273.4d.1:c.524G>A | ||||
HGVSp | CE49241:p.Trp175Ter | ||||
cDNA_position | 727 | ||||
CDS_position | 524 | ||||
Protein_position | 175 | ||||
Exon_number | 5/9 | ||||
Codon_change | tGg/tAg | ||||
Amino_acid_change | W/* | ||||
Interactor (26) | |||||
Genetics | Interpolated_map_position | IV | 1.757 | ||
Mapping_data | In_2_point | 93 | |||
104 | |||||
118 | |||||
820 | |||||
1649 | |||||
3270 | |||||
3378 | |||||
3729 | |||||
6088 | |||||
7050 | |||||
In_multi_point (47) | |||||
In_pos_neg_data | 3700 | ||||
Description | Phenotype (20) | ||||
Phenotype_not_observed (8) | |||||
Reference (38) | |||||
Method | Substitution_allele |