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| Variant ID | 528 |
|---|---|
| Genomic Coordinate (GRCh38) | g.22212924C>T |
| Variant | c.1666C>T |
| Variant Start Position | 1666 |
| Location | Exon 16 |
| Amino Acid Change | p.Gln556* |
| ACMG Call | Pathogenic |
| ACMG Call Last Revised Date | 4/28/2021 |
| Predicted ACMG Call | Pathogenic | Effect Type | Nonsense |
| Variant Type | SNV |
| PMID | 31658436, 32253725, 34806794 |
| Article Count | 3 |
| Times Observed | 3-5 |
| Clinical Phenotype | abnormal bone development, bowed or bent leg, short stature |
| 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 | - |