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| Variant ID | 468 |
|---|---|
| Genomic Coordinate (GRCh38) | g.22178319G>C |
| Variant | c.1529G>C |
| Variant Start Position | 1529 |
| Location | Exon 14 |
| Amino Acid Change | p.Arg510Pro |
| ACMG Call | - |
| ACMG Call Last Revised Date | 4/28/2021 |
| Predicted ACMG Call | Likely Pathogenic | Effect Type | Missense |
| Variant Type | SNV |
| PMID | 23079138, 15057978, 16636593, 24926462, 21902834, 34806794 |
| Article Count | 6 |
| Times Observed | < 3 |
| Clinical Phenotype | Short Stature, Other Musculoskeletal Abnormalities |
| ACMG Categories | pm2, pp3, ppc |
| ACMG Explanations | pm2: chrX:22196436 ref:G 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 | Yes |
| ClinVar Classification | Likely 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-22196436-G-C |
| GnomAD Alleles | - |
| DBNSFP Alleles | X-22196436-G-C |
| Other Alleles | X-22196436-GC-CT X-22196436-GC-CA X-22196436-GC-CG |
| Note | nan |
| Warnings | - |