Sponsored by Ultragenyx Pharmaceutical Inc.
| Variant ID | 375 |
|---|---|
| Genomic Coordinate (GRCh38) | g.22114501G>T |
| Variant | c.1217G>T |
| Variant Start Position | 1217 |
| Location | Exon 11 |
| Amino Acid Change | p.Cys406Phe |
| ACMG Call | - |
| ACMG Call Last Revised Date | 4/28/2021 |
| Predicted ACMG Call | Pathogenic | Effect Type | Missense |
| Variant Type | SNV |
| PMID | 29460029, 29505567, 34806794 |
| Article Count | 3 |
| Times Observed | < 3 |
| Clinical Phenotype | Short Stature, Lower Limb Deformities |
| ACMG Categories | ps2, pm2, pp3, ppc |
| ACMG Explanations | pm2: chrX:22132619 ref:G alt:T was not found in gnomAD exomes or genomes. pp3: The SIFT, MutationTaster, and PolyPhen predictions agree that this variant is possibly or probably damaging. |
| Variant in Clinvar | No |
| ClinVar Classification | - |
| Categories In Literature | ppc, ps2, pp3 |
| No Contrary Evidence Found | Yes |
| ExAC Allele Frequency | - |
| Thousand Genomes Allel Frequency | - |
| Ontology Relations | - |
| hg19 Mapping Failed | No |
| Literature Alleles | X-22132619-G-T |
| GnomAD Alleles | - |
| DBNSFP Alleles | X-22132619-G-T |
| Other Alleles | X-22132619-GT-TC |
| Note | nan |
| Warnings | - |