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| Variant ID | 733 |
|---|---|
| Genomic Coordinate (GRCh38) | g.22245340G>A |
| Variant | c.2078G>A |
| Variant Start Position | 2078 |
| Location | Exon 21 |
| Amino Acid Change | p.Cys693Tyr |
| ACMG Call | Pathogenic |
| ACMG Call Last Revised Date | 4/28/2021 |
| Predicted ACMG Call | Likely Pathogenic | Effect Type | Missense |
| Variant Type | SNV |
| PMID | 23079138, 30682568, 16636593, 24229582, 24857004, 34806794 |
| Article Count | 6 |
| Times Observed | 3-5 |
| Clinical Phenotype | Short Stature, Lower Limb Deformities |
| ACMG Categories | ps4m, pm2, pp3, ppc |
| ACMG Explanations | pm2: chrX:22263457 ref:G alt:A 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 | Pathogenic |
| Categories In Literature | ppc, ps4m |
| No Contrary Evidence Found | Yes |
| ExAC Allele Frequency | - |
| Thousand Genomes Allel Frequency | - |
| Ontology Relations | - |
| hg19 Mapping Failed | No |
| Literature Alleles | X-22263457-G-A |
| GnomAD Alleles | - |
| DBNSFP Alleles | X-22263457-G-A |
| Other Alleles | X-22263457-GC-AT |
| Note | nan |
| Warnings | - |