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| Variant ID | 635 |
|---|---|
| Genomic Coordinate (GRCh38) | g.22221725 |
| Variant | c.? |
| Variant Start Position | 1881 |
| Location | Exon 18 |
| Amino Acid Change | p.Trp627* |
| ACMG Call | - |
| ACMG Call Last Revised Date | 4/28/2021 |
| Predicted ACMG Call | Pathogenic | Effect Type | Nonsense |
| Variant Type | SNV |
| PMID | 19242361, 27221261, 34806794 |
| Article Count | 3 |
| Times Observed | 3-5 |
| Clinical Phenotype | radiological signs of rickets, bowed or bent legs, waddling gait, fraying of the distal metaphyseal line of both femurs and tibiae, nephrocalcinosis |
| ACMG Categories | pvs1, pm2, pp1, ppc |
| ACMG Explanations | pvs1: This is a loss of function variant. pm2: chrX:22239841 ref:G alt:A was not found in gnomAD exomes or genomes. chrX:22239842 ref:G alt:A was not found in gnomAD exomes or genomes. |
| Variant in Clinvar | No |
| ClinVar Classification | - |
| Categories In Literature | pp1, ppc |
| No Contrary Evidence Found | Yes |
| ExAC Allele Frequency | - |
| Thousand Genomes Allel Frequency | - |
| Ontology Relations | - |
| hg19 Mapping Failed | No |
| Literature Alleles | X-22239842-G-A |
| GnomAD Alleles | - |
| DBNSFP Alleles | X-22239841-G-A X-22239842-G-A |
| Other Alleles | X-22239841-GG-AA |
| Note | cDNA is not provided |
| Warnings | - |