Sponsored by Ultragenyx Pharmaceutical Inc.
| Variant ID | 1001 |
|---|---|
| Genomic Coordinate (GRCh38) | g.22047178del |
| Variant | c.316del |
| Variant Start Position | 316 |
| Location | Exon 3 |
| Amino Acid Change | p.Trp106Glyfs*2 |
| ACMG Call | Pathogenic |
| ACMG Call Last Revised Date | 2022-02-02 00:00:00 |
| Predicted ACMG Call | nan | Effect Type | Frameshift |
| Variant Type | Small deletion |
| PMID | - |
| Article Count | 0 |
| Times Observed | <3 |
| Clinical Phenotype | Gait abnormalities, Bone and/or joint pain and/or joint stiffness, Lower limb deformities, Short Stature |
| ACMG Categories | - |
| ACMG Explanations | - |
| Variant in Clinvar | nan |
| ClinVar Classification | nan |
| Categories In Literature | nan |
| No Contrary Evidence Found | nan |
| ExAC Allele Frequency | - |
| Thousand Genomes Allel Frequency | - |
| Ontology Relations | - |
| hg19 Mapping Failed | nan |
| Literature Alleles | - |
| GnomAD Alleles | - |
| DBNSFP Alleles | - |
| Other Alleles | - |
| Note | nan |
| Warnings | - |