Sponsored by Ultragenyx Pharmaceutical Inc.
| Variant ID | 230 |
|---|---|
| Genomic Coordinate (GRCh38) | g.22094000C>G |
| Variant | c.750C>G |
| Variant Start Position | 750 |
| Location | Exon 7 |
| Amino Acid Change | p.Tyr250* |
| ACMG Call | Pathogenic |
| ACMG Call Last Revised Date | 4/28/2021 |
| Predicted ACMG Call | Pathogenic | Effect Type | Nonsense |
| Variant Type | SNV |
| PMID | 21902834, 34806794 |
| Article Count | 2 |
| Times Observed | < 3 |
| Clinical Phenotype | Short Stature, Other Musculoskeletal Abnormalities |
| ACMG Categories | pvs1, pm2, ppc |
| ACMG Explanations | pvs1: This is a loss of function variant. pm2: chrX:22112118 ref:C alt:G was not found in gnomAD exomes or genomes. chrX:22112118 ref:C alt:A was not found in gnomAD exomes or genomes. |
| 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 | No |
| Literature Alleles | X-22112118-C-G X-22112118-C-A |
| GnomAD Alleles | - |
| DBNSFP Alleles | X-22112118-C-G X-22112118-C-A |
| Other Alleles | X-22112117-AC-GA |
| Note | nan |
| Warnings | - |