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| Variant ID | 440 |
|---|---|
| Genomic Coordinate (GRCh38) | g.22168313_22190503del |
| Variant | c.1405-?_1645+?del |
| Variant Start Position | 1405 |
| Location | Exon 13 - 15 |
| Amino Acid Change | Deletion (Exons 13-15) |
| ACMG Call | - |
| ACMG Call Last Revised Date | 4/28/2021 |
| Predicted ACMG Call | Likely Pathogenic | Effect Type | Deletion |
| Variant Type | CNV |
| PMID | 24926462, 23079138, 21902834, 34806794 |
| Article Count | 4 |
| Times Observed | < 3 |
| Clinical Phenotype | - |
| ACMG Categories | pvs1 |
| ACMG Explanations | pvs1: This is a loss of function variant. |
| Variant in Clinvar | No |
| ClinVar Classification | - |
| Categories In Literature | - |
| 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 | - |