Sponsored by Ultragenyx Pharmaceutical Inc.
| Variant ID | 141 |
|---|---|
| Genomic Coordinate (GRCh38) | g.22076460C>T |
| Variant | c.422C>T |
| Variant Start Position | 422 |
| Location | Exon 4 |
| Amino Acid Change | p.Ser141Phe |
| ACMG Call | - |
| ACMG Call Last Revised Date | 4/28/2021 |
| Predicted ACMG Call | Likely Pathogenic | Effect Type | Missense |
| Variant Type | SNV |
| PMID | 26894575, 34806794 |
| Article Count | 2 |
| Times Observed | 3-5 |
| Clinical Phenotype | Short Stature, Lower Limb Deformities |
| ACMG Categories | pm2, pp1, pp3 |
| ACMG Explanations | pm2: chrX:22094578 ref:C 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 | Yes |
| ClinVar Classification | Likely pathogenic |
| Categories In Literature | pp1 |
| No Contrary Evidence Found | Yes |
| ExAC Allele Frequency | - |
| Thousand Genomes Allel Frequency | - |
| Ontology Relations | - |
| hg19 Mapping Failed | No |
| Literature Alleles | - |
| GnomAD Alleles | - |
| DBNSFP Alleles | X-22094578-C-T |
| Other Alleles | X-22094578-CC-TT |
| Note | nan |
| Warnings | - |