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| Variant ID | 177 |
|---|---|
| Genomic Coordinate (GRCh38) | g.22077576T>A |
| Variant | c.537T>A |
| Variant Start Position | 537 |
| Location | Exon 5 |
| Amino Acid Change | p.Val179= |
| ACMG Call | - |
| ACMG Call Last Revised Date | 4/28/2021 |
| Predicted ACMG Call | Likely Benign | Effect Type | Synonymous |
| Variant Type | SNV |
| PMID | 9768674, 34806794 |
| Article Count | 2 |
| Times Observed | < 3 |
| Clinical Phenotype | - |
| ACMG Categories | ppc, bp7 |
| ACMG Explanations | bp7: This is a synonymous variant. |
| Variant in Clinvar | Yes |
| ClinVar Classification | Benign/Likely 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 | - |
| GnomAD Alleles | X-22095694-T-A |
| DBNSFP Alleles | - |
| Other Alleles | X-22095694-T-G X-22095694-T-C |
| Note | nan |
| Warnings | - |