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| Variant ID | 552 |
|---|---|
| Genomic Coordinate (GRCh38) | g.22219036_22221743del |
| Variant | c.1701-?_1899+?del |
| Variant Start Position | 1701 |
| Location | Exons 17-18 |
| Amino Acid Change | Deletion (Exons 17-18) |
| ACMG Call | Pathogenic |
| ACMG Call Last Revised Date | 4/28/2021 |
| Predicted ACMG Call | - | Effect Type | Deletion |
| Variant Type | CNV |
| PMID | 32329911, 34806794 |
| Article Count | 2 |
| Times Observed | < 3 |
| Clinical Phenotype | Fractures/pseudo-fractures, Gait abnormalities, Lower limb deformities |
| ACMG Categories | - |
| ACMG Explanations | - |
| Variant in Clinvar | No |
| ClinVar Classification | - |
| Categories In Literature | - |
| No Contrary Evidence Found | No |
| ExAC Allele Frequency | - |
| Thousand Genomes Allel Frequency | - |
| Ontology Relations | - |
| hg19 Mapping Failed | No |
| Literature Alleles | - |
| GnomAD Alleles | - |
| DBNSFP Alleles | - |
| Other Alleles | - |
| Note | nan |
| Warnings | - |