WormBase Tree Display for Variation: WBVar01858899
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WBVar01858899 | Name | Public_name | WBVar01858899 | |||||
---|---|---|---|---|---|---|---|---|
Other_name | cewivar00572386 | |||||||
ZK617.1g.1:c.1884+174C>A | ||||||||
ZK617.1d.1:c.723+174C>A | ||||||||
CE49973:p.Thr819Lys | ||||||||
CE47057:p.Thr305Lys | ||||||||
ZK617.1c.1:c.914C>A | ||||||||
ZK617.1a.1:c.1884+174C>A | ||||||||
ZK617.1b.1:c.2531C>A | ||||||||
ZK617.1h.1:c.2456C>A | ||||||||
CE49956:p.Thr819Lys | ||||||||
ZK617.1e.1:c.672+174C>A | ||||||||
CE33018:p.Thr844Lys | ||||||||
ZK617.1i.1:c.2456C>A | ||||||||
ZK617.1f.1:c.1838C>A | ||||||||
CE46948:p.Thr613Lys | ||||||||
HGVSg | CHROMOSOME_IV:g.11995080G>T | |||||||
Sequence_details | SMap | S_parent | Sequence | ZK617 | ||||
Flanking_sequences | CCAGCGACTTTTGCTTTGAGTTCTTCTGAT | TCGACTTCTCTTCGACTTCTTTGTGGTGCT | ||||||
Mapping_target | ZK617 | |||||||
Source_location | 225 | CHROMOSOME_IV | 11995057 | 11995057 | From_analysis | Million_mutation_project_reanalysis | ||
Type_of_mutation | Substitution | G | 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 | WBGene00006759 | ||||||
Transcript | ZK617.1i.1 | VEP_consequence | missense_variant | |||||
VEP_impact | MODERATE | |||||||
PolyPhen | 0.049 | benign | ||||||
HGVSc | ZK617.1i.1:c.2456C>A | |||||||
HGVSp | CE49956:p.Thr819Lys | |||||||
cDNA_position | 2456 | |||||||
CDS_position | 2456 | |||||||
Protein_position | 819 | |||||||
Exon_number | 15/33 | |||||||
Codon_change | aCa/aAa | |||||||
Amino_acid_change | T/K | |||||||
ZK617.1a.1 | VEP_consequence | intron_variant | ||||||
VEP_impact | MODIFIER | |||||||
HGVSc | ZK617.1a.1:c.1884+174C>A | |||||||
Intron_number | 14/32 | |||||||
ZK617.1g.1 | VEP_consequence | intron_variant | ||||||
VEP_impact | MODIFIER | |||||||
HGVSc | ZK617.1g.1:c.1884+174C>A | |||||||
Intron_number | 13/31 | |||||||
ZK617.1f.1 | VEP_consequence | missense_variant | ||||||
VEP_impact | MODERATE | |||||||
PolyPhen | 0.001 | benign | ||||||
HGVSc | ZK617.1f.1:c.1838C>A | |||||||
HGVSp | CE46948:p.Thr613Lys | |||||||
cDNA_position | 1838 | |||||||
CDS_position | 1838 | |||||||
Protein_position | 613 | |||||||
Exon_number | 13/31 | |||||||
Codon_change | aCa/aAa | |||||||
Amino_acid_change | T/K | |||||||
ZK617.1d.1 | VEP_consequence | intron_variant | ||||||
VEP_impact | MODIFIER | |||||||
HGVSc | ZK617.1d.1:c.723+174C>A | |||||||
Intron_number | 4/21 | |||||||
ZK617.1c.1 | VEP_consequence | missense_variant | ||||||
VEP_impact | MODERATE | |||||||
PolyPhen | 0.915 | possibly_damaging | ||||||
HGVSc | ZK617.1c.1:c.914C>A | |||||||
HGVSp | CE47057:p.Thr305Lys | |||||||
cDNA_position | 1175 | |||||||
CDS_position | 914 | |||||||
Protein_position | 305 | |||||||
Exon_number | 8/26 | |||||||
Codon_change | aCa/aAa | |||||||
Amino_acid_change | T/K | |||||||
ZK617.1h.1 | VEP_consequence | missense_variant | ||||||
VEP_impact | MODERATE | |||||||
HGVSc | ZK617.1h.1:c.2456C>A | |||||||
HGVSp | CE49973:p.Thr819Lys | |||||||
cDNA_position | 2456 | |||||||
CDS_position | 2456 | |||||||
Protein_position | 819 | |||||||
Exon_number | 15/34 | |||||||
Codon_change | aCa/aAa | |||||||
Amino_acid_change | T/K | |||||||
ZK617.1b.1 | VEP_consequence | missense_variant | ||||||
VEP_impact | MODERATE | |||||||
HGVSc | ZK617.1b.1:c.2531C>A | |||||||
HGVSp | CE33018:p.Thr844Lys | |||||||
cDNA_position | 2531 | |||||||
CDS_position | 2531 | |||||||
Protein_position | 844 | |||||||
Exon_number | 16/34 | |||||||
Codon_change | aCa/aAa | |||||||
Amino_acid_change | T/K | |||||||
ZK617.1e.1 | VEP_consequence | intron_variant | ||||||
VEP_impact | MODIFIER | |||||||
HGVSc | ZK617.1e.1:c.672+174C>A | |||||||
Intron_number | 3/20 | |||||||
Method | WGS_Flibotte |