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| Variant ID | 811 |
|---|---|
| Genomic Coordinate (GRCh38) | g.22248011C>T |
| Variant | c.*58C>T |
| Variant Start Position | 2318 |
| Location | 3' UTR |
| Amino Acid Change | p.? |
| ACMG Call | - |
| ACMG Call Last Revised Date | 4/28/2021 |
| Predicted ACMG Call | Likely Benign | Effect Type | Untranslated region |
| Variant Type | SNV |
| PMID | 18625346, 34806794 |
| Article Count | 2 |
| Times Observed | < 3 |
| Clinical Phenotype | - |
| ACMG Categories | ppc_compound |
| ACMG Explanations | - |
| Variant in Clinvar | Yes |
| ClinVar Classification | Benign |
| Categories In Literature | ppc_compound |
| No Contrary Evidence Found | Yes |
| ExAC Allele Frequency | - |
| Thousand Genomes Allel Frequency | - |
| Ontology Relations | - |
| hg19 Mapping Failed | No |
| Literature Alleles | X-22266128-C-T |
| GnomAD Alleles | X-22266128-C-T |
| DBNSFP Alleles | - |
| Other Alleles | - |
| Note | nan |
| Warnings | - |