Sponsored by Ultragenyx Pharmaceutical Inc.
| Variant ID | 273 |
|---|---|
| Genomic Coordinate (GRCh38) | g.22097019T>C |
| Variant | c.914T>C |
| Variant Start Position | 914 |
| Location | Exon 8 |
| Amino Acid Change | p.Leu305Pro |
| ACMG Call | - |
| ACMG Call Last Revised Date | 4/28/2021 |
| Predicted ACMG Call | Likely Pathogenic | Effect Type | Missense |
| Variant Type | SNV |
| PMID | 18775977, 34806794 |
| Article Count | 2 |
| Times Observed | < 3 |
| Clinical Phenotype | Cardio Vascular Disease, Lower Limb Deformities, Kidney Disease, Thyroid |
| ACMG Categories | pm2, pp1, pp3 |
| ACMG Explanations | pm2: chrX:22115137 ref:T alt:C 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 | pp1 |
| No Contrary Evidence Found | Yes |
| ExAC Allele Frequency | - |
| Thousand Genomes Allel Frequency | - |
| Ontology Relations | - |
| hg19 Mapping Failed | No |
| Literature Alleles | X-22115137-T-C |
| GnomAD Alleles | - |
| DBNSFP Alleles | X-22115137-T-C |
| Other Alleles | X-22115137-TG-CC X-22115137-TG-CT X-22115137-TG-CA |
| Note | nan |
| Warnings | - |