WormBase Tree Display for Variation: WBVar00142815
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| WBVar00142815 | Evidence | Paper_evidence | WBPaper00005054 | |||
|---|---|---|---|---|---|---|
| Name | Public_name | dh4 | ||||
| Other_name | CE27206:p.Leu324Phe | |||||
| T13C5.1c.1:c.862C>T | ||||||
| CE30451:p.Leu309Phe | ||||||
| T13C5.1b.1:c.925C>T | ||||||
| T13C5.1a.1:c.970C>T | ||||||
| CE53632:p.Leu288Phe | ||||||
| HGVSg | CHROMOSOME_X:g.6199654C>T | |||||
| Sequence_details | SMap | S_parent | Sequence | T13C5 | ||
| Flanking_sequences | tggacgaactacaaaaggagcggatttcga | ttcagcagtggtaagaaccagttttttgtg | ||||
| Mapping_target | T13C5 | |||||
| Type_of_mutation | Substitution | c | t | |||
| SeqStatus | Sequenced | |||||
| Variation_type | Allele | |||||
| Origin | Species | Caenorhabditis elegans | ||||
| Laboratory | AA | |||||
| Status | Live | |||||
| Affects | Gene | WBGene00000905 | ||||
| Transcript | T13C5.1c.1 | VEP_consequence | missense_variant | |||
| VEP_impact | MODERATE | |||||
| SIFT | 0 | deleterious | ||||
| PolyPhen | 1 | probably_damaging | ||||
| HGVSc | T13C5.1c.1:c.862C>T | |||||
| HGVSp | CE53632:p.Leu288Phe | |||||
| cDNA_position | 862 | |||||
| CDS_position | 862 | |||||
| Protein_position | 288 | |||||
| Exon_number | 5/10 | |||||
| Codon_change | Ctt/Ttt | |||||
| Amino_acid_change | L/F | |||||
| T13C5.1b.1 | VEP_consequence | missense_variant | ||||
| VEP_impact | MODERATE | |||||
| SIFT | 0.03 | deleterious | ||||
| PolyPhen | 1 | probably_damaging | ||||
| HGVSc | T13C5.1b.1:c.925C>T | |||||
| HGVSp | CE30451:p.Leu309Phe | |||||
| cDNA_position | 925 | |||||
| CDS_position | 925 | |||||
| Protein_position | 309 | |||||
| Exon_number | 6/10 | |||||
| Codon_change | Ctt/Ttt | |||||
| Amino_acid_change | L/F | |||||
| T13C5.1a.1 | VEP_consequence | missense_variant | ||||
| VEP_impact | MODERATE | |||||
| SIFT | 0 | deleterious | ||||
| PolyPhen | 1 | probably_damaging | ||||
| HGVSc | T13C5.1a.1:c.970C>T | |||||
| HGVSp | CE27206:p.Leu324Phe | |||||
| cDNA_position | 1031 | |||||
| CDS_position | 970 | |||||
| Protein_position | 324 | |||||
| Exon_number | 8/13 | |||||
| Codon_change | Ctt/Ttt | |||||
| Amino_acid_change | L/F | |||||
| Genetics | Interpolated_map_position | X | -3.4637 | |||
| Reference | WBPaper00005054 | |||||
| Method | Substitution_allele |
