WormBase Tree Display for Variation: WBVar00143753
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WBVar00143753 | Evidence | Paper_evidence | WBPaper00003844 | ||
---|---|---|---|---|---|
Name | Public_name | e1112 | |||
Other_name | B0432.5b.1:c.631C>T | ||||
CE37742:p.Gln211Ter | |||||
B0432.5c.1:c.826C>T | |||||
B0432.5a.1:c.841C>T | |||||
Y43H11AL.3a.2:c.-13+3945G>A | |||||
CE45548:p.Gln276Ter | |||||
CE29946:p.Gln281Ter | |||||
HGVSg | CHROMOSOME_II:g.259619C>T | ||||
Sequence_details | SMap | S_parent | Sequence | B0432 | |
Flanking_sequences | gcggtatatcggcaaaatttgaaaattctc | aagaggagaaggttttgacagcggatagga | |||
Mapping_target | B0432 | ||||
Type_of_mutation | Substitution | c | t | ||
SeqStatus | Sequenced | ||||
Variation_type | Allele | ||||
Origin | Species | Caenorhabditis elegans | |||
Strain | WBStrain00004246 | ||||
WBStrain00034688 | |||||
WBStrain00055863 | |||||
WBStrain00055864 | |||||
WBStrain00055865 | |||||
Laboratory | CB | ||||
IV | |||||
Status | Live | ||||
Affects | Gene | WBGene00004166 | |||
WBGene00000296 | |||||
Transcript | Y43H11AL.3a.2 | VEP_consequence | intron_variant | ||
VEP_impact | MODIFIER | ||||
HGVSc | Y43H11AL.3a.2:c.-13+3945G>A | ||||
Intron_number | 1/28 | ||||
B0432.5c.1 | VEP_consequence | stop_gained | |||
VEP_impact | HIGH | ||||
HGVSc | B0432.5c.1:c.826C>T | ||||
HGVSp | CE45548:p.Gln276Ter | ||||
cDNA_position | 910 | ||||
CDS_position | 826 | ||||
Protein_position | 276 | ||||
Exon_number | 5/9 | ||||
Codon_change | Caa/Taa | ||||
Amino_acid_change | Q/* | ||||
B0432.5a.1 | VEP_consequence | stop_gained | |||
VEP_impact | HIGH | ||||
HGVSc | B0432.5a.1:c.841C>T | ||||
HGVSp | CE29946:p.Gln281Ter | ||||
cDNA_position | 841 | ||||
CDS_position | 841 | ||||
Protein_position | 281 | ||||
Exon_number | 4/9 | ||||
Codon_change | Caa/Taa | ||||
Amino_acid_change | Q/* | ||||
B0432.5b.1 | VEP_consequence | stop_gained | |||
VEP_impact | HIGH | ||||
HGVSc | B0432.5b.1:c.631C>T | ||||
HGVSp | CE37742:p.Gln211Ter | ||||
cDNA_position | 1547 | ||||
CDS_position | 631 | ||||
Protein_position | 211 | ||||
Exon_number | 4/9 | ||||
Codon_change | Caa/Taa | ||||
Amino_acid_change | Q/* | ||||
Genetics | Interpolated_map_position | II | -15.661 | ||
Mapping_data | In_2_point | 34 | |||
797 | |||||
In_multi_point | 45 | ||||
273 | |||||
Description | Phenotype (35) | ||||
Phenotype_not_observed (17) | |||||
Disease_info | Models_disease | DOID:670 | |||
DOID:809 | |||||
DOID:14330 | |||||
DOID:0050742 | |||||
Models_disease_in_annotation (4) | |||||
Reference (35) | |||||
Method | Substitution_allele |