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| Variant ID | 373 |
|---|---|
| Genomic Coordinate (GRCh38) | g.22114500T>C |
| Variant | c.1216T>C |
| Variant Start Position | 1216 |
| Location | Exon 11 |
| Amino Acid Change | p.Cys406Arg |
| ACMG Call | Pathogenic |
| ACMG Call Last Revised Date | 4/28/2021 |
| Predicted ACMG Call | Likely Pathogenic | Effect Type | Missense |
| Variant Type | SNV |
| PMID | 29505567, 24756041, 34806794 |
| Article Count | 3 |
| Times Observed | < 3 |
| Clinical Phenotype | Short Stature, Bone Density Abnormalities, Lower Limb Deformities |
| ACMG Categories | pm2, pm6, pp3, ppc_het |
| ACMG Explanations | pm2: chrX:22132618 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 | Yes |
| ClinVar Classification | Pathogenic |
| Categories In Literature | pp3, ppc_het, pm6 |
| No Contrary Evidence Found | Yes |
| ExAC Allele Frequency | - |
| Thousand Genomes Allel Frequency | - |
| Ontology Relations | - |
| hg19 Mapping Failed | No |
| Literature Alleles | X-22132618-T-C |
| GnomAD Alleles | - |
| DBNSFP Alleles | X-22132618-T-C |
| Other Alleles | X-22132618-TGT-CGC X-22132618-TGT-AGA X-22132618-TGT-AGG X-22132618-TGT-CGA X-22132618-TGT-CGG |
| Note | nan |
| Warnings | - |