WormBase Tree Display for Variation: WBVar00241146
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WBVar00241146 | Evidence | Paper_evidence | WBPaper00005045 | ||
---|---|---|---|---|---|
Name | Public_name | q507 | |||
Other_name | CE27480:p.Gln200_Val209delinsLeu | ||||
Y54E10A.4a.1:c.-44_-18del | |||||
Y54E10A.4a.2:c.-44_-18del | |||||
Y54E10A.4b.1:c.599_625del | |||||
HGVSg | CHROMOSOME_I:g.3213074_3213100del | ||||
Sequence_details | SMap | S_parent | Sequence | Y54E10A | |
Flanking_sequences | ttgtcaagaaccatcggaacgagaacaatc | ttggtggaatctcgcatatgatgaatcgga | |||
Mapping_target | Y54E10A | ||||
Type_of_mutation | Deletion | ||||
SeqStatus | Sequenced | ||||
Variation_type | Allele | ||||
Origin | Species | Caenorhabditis elegans | |||
Laboratory | JK | ||||
Status | Live | ||||
Affects | Gene | WBGene00001481 | |||
Transcript | Y54E10A.4a.1 | VEP_consequence | 5_prime_UTR_variant | ||
VEP_impact | MODIFIER | ||||
HGVSc | Y54E10A.4a.1:c.-44_-18del | ||||
cDNA_position | 611-637 | ||||
Exon_number | 5/11 | ||||
Y54E10A.4b.1 | VEP_consequence | inframe_deletion | |||
VEP_impact | MODERATE | ||||
HGVSc | Y54E10A.4b.1:c.599_625del | ||||
HGVSp | CE27480:p.Gln200_Val209delinsLeu | ||||
cDNA_position | 611-637 | ||||
CDS_position | 599-625 | ||||
Protein_position | 200-209 | ||||
Exon_number | 6/10 | ||||
Codon_change | cAACGAGTCGTCTCCAACAAAGTATTCGtt/ctt | ||||
Amino_acid_change | QRVVSNKVFV/L | ||||
Y54E10A.4a.2 | VEP_consequence | 5_prime_UTR_variant | |||
VEP_impact | MODIFIER | ||||
HGVSc | Y54E10A.4a.2:c.-44_-18del | ||||
cDNA_position | 85-111 | ||||
Exon_number | 1/7 | ||||
Isolation | Mutagen | UV | |||
Genetics | Interpolated_map_position | I | -4.47298 | ||
Reference | WBPaper00005045 | ||||
Method | Deletion_allele |