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| Variant ID | 434 |
|---|---|
| Genomic Coordinate (GRCh38) | g.22168313_22227612dup |
| Variant | c.1405-?_2070+?dup |
| Variant Start Position | 1405 |
| Location | Intron 12 |
| Amino Acid Change | Gain (Exons 13-20) |
| ACMG Call | Likely Pathogenic |
| ACMG Call Last Revised Date | 2022-02-02 00:00:00 |
| Predicted ACMG Call | - | Effect Type | Duplication |
| Variant Type | CNV |
| PMID | 34806794 |
| Article Count | 1 |
| Times Observed | 3-5 |
| Clinical Phenotype | Lower Limb Deformities, Tooth Abscesses and/or Excessive Dental Caries, Fractures/Pseudo-Fractures |
| 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 | - |