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| Variant ID | 370 |
|---|---|
| Genomic Coordinate (GRCh38) | g.22114493G>A |
| Variant | c.1209G>A |
| Variant Start Position | 1209 |
| Location | Exon 11 |
| Amino Acid Change | p.Trp403* |
| ACMG Call | Pathogenic |
| ACMG Call Last Revised Date | 4/28/2021 |
| Predicted ACMG Call | Pathogenic | Effect Type | Nonsense |
| Variant Type | SNV |
| PMID | 30920082, 15057978, 9097956, 16636593, 34806794 |
| Article Count | 5 |
| Times Observed | 11-20 |
| Clinical Phenotype | Short Stature, Bone and/or Joint Pain and/or Joint Stiffness, Lower Limb Deformities, Tooth Abscesses and/or Excessive Dental Caries |
| ACMG Categories | pvs1, ps3, pm2, pp1, ppc |
| ACMG Explanations | pvs1: This is a loss of function variant. pm2: chrX:22132610 ref:G alt:A was not found in gnomAD exomes or genomes. chrX:22132611 ref:G alt:A was not found in gnomAD exomes or genomes. |
| Variant in Clinvar | Yes |
| ClinVar Classification | Pathogenic |
| Categories In Literature | ppc, ps3, pp1 |
| No Contrary Evidence Found | Yes |
| ExAC Allele Frequency | - |
| Thousand Genomes Allel Frequency | - |
| Ontology Relations | 30920082: fx/upregulation of secondary protein 30920082: fx/decrease in phosphorylation of secondary protein 30920082: assay/real-time quantitative pcr 30920082: assay/western blot 30920082: method/sirna knockdown 30920082: method/expression vector 30920082: method/site-directed mutagenesis 30920082: model/patient rna sample 30920082: model/human cell line, not patient derived 30920082: flg/gain of function 30920082: flg/partial loss of function |
| hg19 Mapping Failed | No |
| Literature Alleles | X-22132610-G-A X-22132611-G-A |
| GnomAD Alleles | - |
| DBNSFP Alleles | X-22132610-G-A X-22132611-G-A |
| Other Alleles | X-22132610-GG-AA |
| Note | nan |
| Warnings | - |