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| Variant ID | 484 |
|---|---|
| Genomic Coordinate (GRCh38) | g.22178376_22178377del |
| Variant | c.1586_1586+1del |
| Variant Start Position | 1586 |
| Location | Exon 14 - 15, Intron 14 |
| Amino Acid Change | p.? |
| ACMG Call | Pathogenic |
| ACMG Call Last Revised Date | 4/28/2021 |
| Predicted ACMG Call | Pathogenic | Effect Type | Splice donor |
| Variant Type | Small deletion |
| PMID | 19429806, 10439971, 24229582, 19219621, 27840894, 34141703, 34806794, 23079138, 30599486, 24926462 |
| Article Count | 10 |
| Times Observed | 11-20 |
| Clinical Phenotype | stunted growth, pectus carinatum, abnormal bone development, genu varum |
| ACMG Categories | pvs1, pm6, ppc |
| ACMG Explanations | pvs1: This is a loss of function variant. |
| Variant in Clinvar | No |
| ClinVar Classification | - |
| Categories In Literature | ppc, pm6 |
| No Contrary Evidence Found | Yes |
| ExAC Allele Frequency | - |
| Thousand Genomes Allel Frequency | - |
| Ontology Relations | - |
| hg19 Mapping Failed | Yes |
| Literature Alleles | - |
| GnomAD Alleles | - |
| DBNSFP Alleles | - |
| Other Alleles | - |
| Note | nan |
| Warnings | - |