Sponsored by Ultragenyx Pharmaceutical Inc.
| Variant ID | 454 |
|---|---|
| Genomic Coordinate (GRCh38) | g.22178272G>A |
| Variant | c.1483-1G>A |
| Variant Start Position | 1483 |
| Location | Intron 13 |
| Amino Acid Change | p.? |
| ACMG Call | Pathogenic |
| ACMG Call Last Revised Date | 4/28/2021 |
| Predicted ACMG Call | Pathogenic | Effect Type | Splice acceptor |
| Variant Type | Splicing |
| PMID | 22577109, 33295632, 34806794 |
| Article Count | 3 |
| Times Observed | 6-10 |
| Clinical Phenotype | bowed or bent legs, lumbar hyperlordosis, knock knee, Lower Limb Deformities, Gait Abnormalities |
| ACMG Categories | pvs1, pm2, ppc |
| ACMG Explanations | pvs1: This is a loss of function variant. pm2: chrX:22196389 ref:G alt:A was not found in gnomAD exomes or genomes. |
| Variant in Clinvar | Yes |
| ClinVar Classification | Pathogenic |
| 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-22196389-G-A |
| GnomAD Alleles | - |
| DBNSFP Alleles | X-22196389-G-A |
| Other Alleles | - |
| Note | nan |
| Warnings | - |