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| Variant ID | 106 |
|---|---|
| Genomic Coordinate (GRCh38) | g.22047166G>A |
| Variant | c.304G>A |
| Variant Start Position | 304 |
| Location | Exon 3 |
| Amino Acid Change | p.Gly102Arg |
| ACMG Call | Pathogenic |
| ACMG Call Last Revised Date | 4/28/2021 |
| Predicted ACMG Call | Likely Pathogenic | Effect Type | Missense |
| Variant Type | SNV |
| PMID | 29901142, 34141703, 27840894, 34806794 |
| Article Count | 4 |
| Times Observed | 11-20 |
| Clinical Phenotype | bowed or bent legs, short stature, Lower Limb Deformities, Tooth Abscesses and/or Excessive Dental Caries, pectus carinatum, abnormal bone development, dental abnormalities |
| ACMG Categories | - |
| ACMG Explanations | - |
| Variant in Clinvar | Yes |
| ClinVar Classification | Pathogenic |
| Categories In Literature | - |
| No Contrary Evidence Found | No |
| ExAC Allele Frequency | - |
| Thousand Genomes Allel Frequency | - |
| Ontology Relations | - |
| hg19 Mapping Failed | No |
| Literature Alleles | - |
| GnomAD Alleles | - |
| DBNSFP Alleles | - |
| Other Alleles | - |
| Note | nan |
| Warnings | - |