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| Variant ID | 287 |
|---|---|
| Genomic Coordinate (GRCh38) | g.22099014 |
| Variant | c.? |
| Variant Start Position | 942 |
| Location | Exon 9 |
| Amino Acid Change | p.Trp314* |
| ACMG Call | - |
| ACMG Call Last Revised Date | 4/28/2021 |
| Predicted ACMG Call | Pathogenic | Effect Type | Nonsense |
| Variant Type | SNV |
| PMID | 11502829, 34806794 |
| Article Count | 2 |
| Times Observed | 3-5 |
| Clinical Phenotype | Lower Limb Deformities |
| ACMG Categories | pvs1, pm1, pm2, pp1 |
| ACMG Explanations | pvs1: This is a loss of function variant. pm2: chrX:22117132 ref:G alt:A was not found in gnomAD exomes or genomes. chrX:22117131 ref:G alt:A was not found in gnomAD exomes or genomes. |
| Variant in Clinvar | No |
| ClinVar Classification | - |
| Categories In Literature | pp1 |
| No Contrary Evidence Found | Yes |
| ExAC Allele Frequency | - |
| Thousand Genomes Allel Frequency | - |
| Ontology Relations | - |
| hg19 Mapping Failed | No |
| Literature Alleles | X-22117132-G-A |
| GnomAD Alleles | - |
| DBNSFP Alleles | X-22117132-G-A X-22117131-G-A |
| Other Alleles | X-22117131-GG-AA |
| Note | cDNA is not provided |
| Warnings | - |