WormBase Tree Display for Variation: WBVar01878049
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WBVar01878049 | Name | Public_name | WBVar01878049 | |||||
---|---|---|---|---|---|---|---|---|
Other_name (14) | ||||||||
HGVSg | CHROMOSOME_X:g.1548853C>T | |||||||
Sequence_details | SMap | S_parent | Sequence | K06A9 | ||||
Flanking_sequences | CCGGCAACCAGTCCAACTACCCAACCGACT | CGGCAACCAGTCCAACTACCCAACCGACTCCGGCAACCAGTCCAACTACCCAACCGACTC | ||||||
Mapping_target | K06A9 | |||||||
Source_location | 225 | CHROMOSOME_X | 1548848 | 1548848 | From_analysis | Million_mutation_project_reanalysis | ||
Type_of_mutation | Substitution | C | T | |||||
SeqStatus | Sequenced | |||||||
Variation_type | Natural_variant | |||||||
Origin | Species | Caenorhabditis elegans | ||||||
Strain | WBStrain00023072 | From_analysis | Million_mutation_project_reanalysis | |||||
Laboratory | VC | |||||||
Analysis | Million_mutation_project_reanalysis | |||||||
Status | Live | |||||||
Affects | Gene | WBGene00019435 | ||||||
Transcript | K06A9.1d.1 | VEP_consequence | missense_variant | |||||
VEP_impact | MODERATE | |||||||
HGVSc | K06A9.1d.1:c.1045C>T | |||||||
HGVSp | CE53511:p.Pro349Ser | |||||||
cDNA_position | 1045 | |||||||
CDS_position | 1045 | |||||||
Protein_position | 349 | |||||||
Exon_number | 7/13 | |||||||
Codon_change | Ccg/Tcg | |||||||
Amino_acid_change | P/S | |||||||
K06A9.1c.1 | VEP_consequence | 5_prime_UTR_variant | ||||||
VEP_impact | MODIFIER | |||||||
HGVSc | K06A9.1c.1:c.-594C>T | |||||||
cDNA_position | 1048 | |||||||
Exon_number | 7/15 | |||||||
K06A9.1b.1 | VEP_consequence | missense_variant | ||||||
VEP_impact | MODERATE | |||||||
HGVSc | K06A9.1b.1:c.1045C>T | |||||||
HGVSp | CE53577:p.Pro349Ser | |||||||
cDNA_position | 1045 | |||||||
CDS_position | 1045 | |||||||
Protein_position | 349 | |||||||
Exon_number | 7/14 | |||||||
Codon_change | Ccg/Tcg | |||||||
Amino_acid_change | P/S | |||||||
K06A9.1g.1 | VEP_consequence | missense_variant | ||||||
VEP_impact | MODERATE | |||||||
HGVSc | K06A9.1g.1:c.1045C>T | |||||||
HGVSp | CE53575:p.Pro349Ser | |||||||
cDNA_position | 1045 | |||||||
CDS_position | 1045 | |||||||
Protein_position | 349 | |||||||
Exon_number | 7/13 | |||||||
Codon_change | Ccg/Tcg | |||||||
Amino_acid_change | P/S | |||||||
K06A9.1e.1 | VEP_consequence | missense_variant | ||||||
VEP_impact | MODERATE | |||||||
HGVSc | K06A9.1e.1:c.1045C>T | |||||||
HGVSp | CE53667:p.Pro349Ser | |||||||
cDNA_position | 1045 | |||||||
CDS_position | 1045 | |||||||
Protein_position | 349 | |||||||
Exon_number | 7/13 | |||||||
Codon_change | Ccg/Tcg | |||||||
Amino_acid_change | P/S | |||||||
K06A9.1f.1 | VEP_consequence | missense_variant | ||||||
VEP_impact | MODERATE | |||||||
HGVSc | K06A9.1f.1:c.1045C>T | |||||||
HGVSp | CE53628:p.Pro349Ser | |||||||
cDNA_position | 1045 | |||||||
CDS_position | 1045 | |||||||
Protein_position | 349 | |||||||
Exon_number | 7/13 | |||||||
Codon_change | Ccg/Tcg | |||||||
Amino_acid_change | P/S | |||||||
K06A9.1a.1 | VEP_consequence | missense_variant | ||||||
VEP_impact | MODERATE | |||||||
HGVSc | K06A9.1a.1:c.1045C>T | |||||||
HGVSp | CE53677:p.Pro349Ser | |||||||
cDNA_position | 1049 | |||||||
CDS_position | 1045 | |||||||
Protein_position | 349 | |||||||
Exon_number | 8/15 | |||||||
Codon_change | Ccg/Tcg | |||||||
Amino_acid_change | P/S | |||||||
Method | WGS_Flibotte |