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| Variant ID | 443 |
|---|---|
| Genomic Coordinate (GRCh38) | g.22168341T>A |
| Variant | c.1434T>A |
| Variant Start Position | 1434 |
| Location | Exon 13 |
| Amino Acid Change | p.Tyr478* |
| ACMG Call | Pathogenic |
| ACMG Call Last Revised Date | 4/28/2021 |
| Predicted ACMG Call | Pathogenic | Effect Type | Nonsense |
| Variant Type | SNV |
| PMID | 16636593, 9097956, 19219621, 34806794 |
| Article Count | 4 |
| Times Observed | 3-5 |
| Clinical Phenotype | Other Musculoskeletal Abnormalities, Lower Limb Deformities |
| ACMG Categories | pvs1, pm2, ppc |
| ACMG Explanations | pvs1: This is a loss of function variant. pm2: chrX:22186458 ref:T alt:A was not found in gnomAD exomes or genomes. chrX:22186458 ref:T alt:G was not found in gnomAD exomes or genomes. |
| Variant in Clinvar | Yes |
| ClinVar Classification | Pathogenic |
| 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-22186458-T-A |
| GnomAD Alleles | - |
| DBNSFP Alleles | X-22186458-T-A X-22186458-T-G |
| Other Alleles | X-22186457-AT-GA |
| Note | nan |
| Warnings | - |