WormBase Tree Display for Variation: WBVar00047936
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| WBVar00047936 | Name | Public_name | WBVar00047936 | ||
|---|---|---|---|---|---|
| Other_name | pas21184 | ||||
| cewivar00057660 | |||||
| F46H5.2c.3:c.*69G>C | |||||
| F46H5.2b.1:c.849-3G>C | |||||
| F46H5.2a.1:c.1122-3G>C | |||||
| F46H5.2c.1:c.*69G>C | |||||
| F46H5.2c.2:c.*69G>C | |||||
| F46H5.2a.2:c.1122-3G>C | |||||
| HGVSg | CHROMOSOME_X:g.7267003G>C | ||||
| Sequence_details | SMap | S_parent | Sequence | F46H5 | |
| Flanking_sequences | aatatgtttcaccaattatacatttttcagagcagaatctcctatatgtcgtcaaccaatcaagcgtaaactaactgttaccacattggcagagactgatatcaagaggctgtttgtgccaagaagcaacacttctccattggtaactgataaaacatttccgtatccacaaaatgtcggccaattgtttgaatctgcatcgaccagcagtgaattttcatccttttcgtaagttgaaatatttttgaaaactgttatatatctcttaaatcggctaatcgaatcaatatctcaatattg | agcgttccacacagtccaggaccgcttcgcgcaatgaccccattgagcagtgtgtctgttggcgatcaagaggagaactcgccaagtgtcaaggatgccgaagagaaagtgagtcaagtggggaagattaaacgcataaattcgattaaaaacaaatagaatgacagaggggttccgccgccatctgccgtatgatctgtgttctgttttcactatcttgcaaatgatcattgaagacgacgtcatctattttcaacttcaatatttcagacaactgataatgacgaagagatgcaggat | |||
| Mapping_target | F46H5 | ||||
| Type_of_mutation | Substitution | G | C | ||
| SeqStatus | Sequenced | ||||
| Variation_type | SNP | ||||
| Predicted_SNP | |||||
| Natural_variant | |||||
| Origin | Species | Caenorhabditis elegans | |||
| Strain (35) | |||||
| Person | WBPerson6900 | ||||
| Analysis | WGS_Pasadena_Quinlan | ||||
| Million_mutation_project_reanalysis | |||||
| Status | Live | ||||
| Affects | Gene | WBGene00018518 | |||
| Transcript | F46H5.2b.1 | VEP_consequence | splice_region_variant,intron_variant | ||
| VEP_impact | LOW | ||||
| HGVSc | F46H5.2b.1:c.849-3G>C | ||||
| Intron_number | 3/4 | ||||
| F46H5.2c.3 | VEP_consequence | 3_prime_UTR_variant | |||
| VEP_impact | MODIFIER | ||||
| HGVSc | F46H5.2c.3:c.*69G>C | ||||
| cDNA_position | 1211 | ||||
| Exon_number | 6/8 | ||||
| F46H5.2c.2 | VEP_consequence | 3_prime_UTR_variant | |||
| VEP_impact | MODIFIER | ||||
| HGVSc | F46H5.2c.2:c.*69G>C | ||||
| cDNA_position | 1211 | ||||
| Exon_number | 6/6 | ||||
| F46H5.2c.1 | VEP_consequence | 3_prime_UTR_variant | |||
| VEP_impact | MODIFIER | ||||
| HGVSc | F46H5.2c.1:c.*69G>C | ||||
| cDNA_position | 1207 | ||||
| Exon_number | 6/7 | ||||
| F46H5.2a.1 | VEP_consequence | splice_region_variant,intron_variant | |||
| VEP_impact | LOW | ||||
| HGVSc | F46H5.2a.1:c.1122-3G>C | ||||
| Intron_number | 5/7 | ||||
| F46H5.2a.2 | VEP_consequence | splice_region_variant,intron_variant | |||
| VEP_impact | LOW | ||||
| HGVSc | F46H5.2a.2:c.1122-3G>C | ||||
| Intron_number | 5/8 | ||||
| Method | WGS_Pasadena_Quinlan |
