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| Variant ID | 641 |
|---|---|
| Genomic Coordinate (GRCh38) | g.22226444_22251311del |
| Variant | c.1900-?_*3357+?del |
| Variant Start Position | 1900 |
| Location | Exons 19-22 |
| Amino Acid Change | Deletion (Exons 19-22) |
| ACMG Call | - |
| ACMG Call Last Revised Date | 4/28/2021 |
| Predicted ACMG Call | Uncertain Significance | Effect Type | Deletion |
| Variant Type | CNV |
| PMID | 16636593, 9199930, 34806794 |
| Article Count | 3 |
| Times Observed | < 3 |
| Clinical Phenotype | - |
| ACMG Categories | pm4 |
| ACMG Explanations | 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 | - |
| 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 | - |