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| Variant ID | 603 |
|---|---|
| Genomic Coordinate (GRCh38) | g.22221649G>A |
| Variant | c.1805G>A |
| Variant Start Position | 1805 |
| Location | Exon 18 |
| Amino Acid Change | p.Trp602* |
| ACMG Call | Pathogenic |
| ACMG Call Last Revised Date | 4/28/2021 |
| Predicted ACMG Call | Pathogenic | Effect Type | Nonsense |
| Variant Type | SNV |
| PMID | 25983897, 34806794 |
| Article Count | 2 |
| Times Observed | < 3 |
| Clinical Phenotype | Short Stature, Fractures/Pseudo-Fractures, Lower Limb Deformities, Kidney Disease, Thyroid, Gait abnormalities, Bone and/or joint pain and/or joint stiffness, Tooth abscesses and/or excessive dental caries |
| ACMG Categories | pvs1, pm2, pm6, pp1, ppc, ppc_het |
| ACMG Explanations | pvs1: This is a loss of function variant. pm2: chrX:22239766 ref:G alt:A was not found in gnomAD exomes or genomes. chrX:22239767 ref:G alt:A was not found in gnomAD exomes or genomes. |
| Variant in Clinvar | Yes |
| ClinVar Classification | Pathogenic |
| Categories In Literature | ppc, ppc_het, pm6, pp1 |
| No Contrary Evidence Found | Yes |
| ExAC Allele Frequency | - |
| Thousand Genomes Allel Frequency | - |
| Ontology Relations | - |
| hg19 Mapping Failed | No |
| Literature Alleles | X-22239766-G-A X-22239767-G-A |
| GnomAD Alleles | - |
| DBNSFP Alleles | X-22239766-G-A X-22239767-G-A |
| Other Alleles | X-22239766-GG-AA |
| Note | nan |
| Warnings | - |