Sponsored by Ultragenyx Pharmaceutical Inc.
| Variant ID | 362 |
|---|---|
| Genomic Coordinate (GRCh38) | g.22114457G>A |
| Variant | c.1174-1G>A |
| Variant Start Position | 1174 |
| Location | Intron 10 |
| 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 | 24836714, 18162710, 28506344, 30599486, 27840894, 34141703, 34806794 |
| Article Count | 7 |
| Times Observed | 6-10 |
| Clinical Phenotype | Short Stature, Tooth Abscesses and/or Excessive Dental Caries, Lower Limb Deformities, genu varum, stunted growth, short stature |
| ACMG Categories | pvs1, ps4m, pm2, pp1 |
| ACMG Explanations | pvs1: This is a loss of function variant. pm2: chrX:22132575 ref:G alt:A was not found in gnomAD exomes or genomes. |
| Variant in Clinvar | No |
| ClinVar Classification | - |
| Categories In Literature | pp1, pp3, ps4m |
| No Contrary Evidence Found | Yes |
| ExAC Allele Frequency | - |
| Thousand Genomes Allel Frequency | - |
| Ontology Relations | - |
| hg19 Mapping Failed | No |
| Literature Alleles | X-22132575-G-A |
| GnomAD Alleles | - |
| DBNSFP Alleles | X-22132575-G-A |
| Other Alleles | - |
| Note | nan |
| Warnings | - |