Sponsored by Ultragenyx Pharmaceutical Inc.
| Variant ID | 380 |
|---|---|
| Genomic Coordinate (GRCh38) | g.22114547del |
| Variant | c.1263del |
| Variant Start Position | 1263 |
| Location | Exon 11 |
| Amino Acid Change | p.Met421Ilefs*3 |
| ACMG Call | - |
| ACMG Call Last Revised Date | 4/28/2021 |
| Predicted ACMG Call | Pathogenic | Effect Type | Frameshift |
| Variant Type | Small deletion |
| PMID | 19219621, 34806794 |
| Article Count | 2 |
| Times Observed | < 3 |
| Clinical Phenotype | Other Musculoskeletal Abnormalities, Lower Limb Deformities |
| ACMG Categories | pvs1, pm2, ppc |
| ACMG Explanations | pvs1: This is a loss of function variant. pm2: chrX:22132660 ref:AAG alt:A was not found in gnomAD exomes or genomes. chrX:22132664 ref:TG alt:T was not found in gnomAD exomes or genomes. |
| 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 | X-22132660-AAG-A X-22132664-TG-T |
| GnomAD Alleles | - |
| DBNSFP Alleles | - |
| Other Alleles | - |
| Note | nan |
| Warnings | - |