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| Variant ID | 227 |
|---|---|
| Genomic Coordinate (GRCh38) | g.22093985T>G |
| Variant | c.735T>G |
| Variant Start Position | 735 |
| Location | Exon 7 |
| Amino Acid Change | p.Tyr245* |
| ACMG Call | - |
| ACMG Call Last Revised Date | 4/28/2021 |
| Predicted ACMG Call | Pathogenic | Effect Type | Nonsense |
| Variant Type | SNV |
| PMID | 21553362, 34806794 |
| Article Count | 2 |
| Times Observed | < 3 |
| Clinical Phenotype | genu varum, bowed or bent leg, nephrocalcinosis, renal dysfunction, hypertension |
| ACMG Categories | pvs1, pm1, pm2, ppc |
| ACMG Explanations | pvs1: This is a loss of function variant. pm1: Located in the Peptidase M13 domain. pm2: Allele frequencies are below 0.0005 in gnomAD. |
| Variant in Clinvar | No |
| ClinVar Classification | - |
| Categories In Literature | ppc |
| No Contrary Evidence Found | YES |
| ExAC Allele Frequency | - |
| Thousand Genomes Allel Frequency | - |
| Ontology Relations | - |
| hg19 Mapping Failed | False |
| Literature Alleles | X-22112103-T-G |
| GnomAD Alleles | - |
| DBNSFP Alleles | X-22112103-T-G X-22112103-T-A |
| Other Alleles | X-22112102-AT-GA |
| Note | nan |
| Warnings | - |