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| Variant ID | 460 |
|---|---|
| Genomic Coordinate (GRCh38) | g.22178281 |
| Variant | c.? |
| Variant Start Position | 1488 |
| Location | Exon 14 |
| Amino Acid Change | p.Lys496* |
| ACMG Call | - |
| ACMG Call Last Revised Date | 2022-02-02 00:00:00 |
| Predicted ACMG Call | Pathogenic | Effect Type | Nonsense |
| Variant Type | SNV |
| PMID | 23700148, 29381780, 22573557, 22006791, 28005411, 34806794 |
| Article Count | 6 |
| Times Observed | 3-5 |
| Clinical Phenotype | - |
| ACMG Categories | pvs1, ps3, pm2 |
| ACMG Explanations | pvs1: This is a loss of function variant. pm2: chrX:22196393 ref:A alt:T was not found in gnomAD exomes or genomes. |
| Variant in Clinvar | No |
| ClinVar Classification | - |
| Categories In Literature | ps3 |
| No Contrary Evidence Found | Yes |
| ExAC Allele Frequency | - |
| Thousand Genomes Allel Frequency | - |
| Ontology Relations | 22006791: fx/upregulation of secondary protein 22006791: assay/real-time quantitative pcr 22006791: model/live mouse model 22006791: flg/gain of function 23700148: model/live mouse model 22573557: model/live mouse model |
| hg19 Mapping Failed | No |
| Literature Alleles | - |
| GnomAD Alleles | - |
| DBNSFP Alleles | X-22196393-A-T |
| Other Alleles | X-22196393-AAG-TAA X-22196393-AAG-TGA |
| Note | cDNA is not provided |
| Warnings | - |