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| Variant ID | 517 |
|---|---|
| Genomic Coordinate (GRCh38) | g.22212904_22212905del |
| Variant | c.1646_?del |
| Variant Start Position | 1646 |
| Location | Exon 16 |
| Amino Acid Change | p.Arg549_?del |
| ACMG Call | - |
| ACMG Call Last Revised Date | 4/28/2021 |
| Predicted ACMG Call | Uncertain Significance | Effect Type | Deletion |
| Variant Type | Small deletion |
| PMID | 30607568, 33639975, 34806794 |
| Article Count | 3 |
| Times Observed | 3-5 |
| Clinical Phenotype | radiological signs of rickets, abnormal bone development |
| ACMG Categories | pm2, pm4, ppc |
| ACMG Explanations | pm2: No deletion variants were found in gnomAD exomes or genomes at this position. pm4: This variant causes an in-frame length change and is not in a repeat region. |
| 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 | - |
| GnomAD Alleles | - |
| DBNSFP Alleles | - |
| Other Alleles | - |
| Note | nan |
| Warnings | - |