Sponsored by Ultragenyx Pharmaceutical Inc.
| Variant ID | 10 |
|---|---|
| Genomic Coordinate (GRCh38) | g.22032973C>T |
| Variant | c.-33C>T |
| Variant Start Position | -33 |
| Location | 5' UTR |
| Amino Acid Change | p.? |
| ACMG Call | - |
| ACMG Call Last Revised Date | 4/28/2021 |
| Predicted ACMG Call | Benign | Effect Type | Untranslated region |
| Variant Type | SNV |
| PMID | 9768674, 34806794, 19219621 |
| Article Count | 3 |
| Times Observed | < 3 |
| Clinical Phenotype | - |
| ACMG Categories | ppc, bs1, ba1 |
| ACMG Explanations | bs1: The overall allele frequency for chrX:22051091 ref:C alt:T is 0.093 in gnomAD exomes. ba1: The overall allele frequency for chrX:22051091 ref:C alt:T is 0.093 in gnomAD exomes. |
| Variant in Clinvar | Yes |
| ClinVar Classification | Benign |
| Categories In Literature | ppc |
| No Contrary Evidence Found | Yes |
| ExAC Allele Frequency | - |
| Thousand Genomes Allel Frequency | - |
| Ontology Relations | - |
| hg19 Mapping Failed | No |
| Literature Alleles | X-22051091-C-T |
| GnomAD Alleles | X-22051091-C-T |
| DBNSFP Alleles | - |
| Other Alleles | - |
| Note | nan |
| Warnings | - |