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| Variant ID | 27 |
|---|---|
| Genomic Coordinate (GRCh38) | g.22033063C>T |
| Variant | c.58C>T |
| Variant Start Position | 58 |
| Location | Exon 1 |
| Amino Acid Change | p.Arg20* |
| ACMG Call | Pathogenic |
| ACMG Call Last Revised Date | 4/28/2021 |
| Predicted ACMG Call | Pathogenic | Effect Type | Nonsense |
| Variant Type | SNV |
| PMID | 10439971, 9199930, 11502829, 23079138, 20157195, 16055933, 21050253, 15057978, 24857004, 9097956, 16636593, 24926462, 25894638, 18162710, 30599486,10874297, 34141703, 34806794 |
| Article Count | 18 |
| Times Observed | 11-20 |
| Clinical Phenotype | Other Musculoskeletal Abnormalities, Short Stature, Lower limb deformities, Lower Limb Deformities, Gait Abnormalities, Gait abnormalities, Skull Deformities |
| ACMG Categories | pvs1, ps4m, pm2, pp1, ppc |
| ACMG Explanations | pvs1: This is a loss of function variant. pm2: chrX:22051181 ref:C alt:T was not found in gnomAD exomes or genomes. |
| Variant in Clinvar | Yes |
| ClinVar Classification | Pathogenic |
| Categories In Literature | ppc, pp1, ps4m |
| No Contrary Evidence Found | Yes |
| ExAC Allele Frequency | - |
| Thousand Genomes Allel Frequency | - |
| Ontology Relations | - |
| hg19 Mapping Failed | No |
| Literature Alleles | X-22051181-C-T |
| GnomAD Alleles | - |
| DBNSFP Alleles | X-22051181-C-T |
| Other Alleles | X-22051181-CG-TA X-22051181-CGA-TAG |
| Note | nan |
| Warnings | - |