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| Variant ID | 506 |
|---|---|
| Genomic Coordinate (GRCh38) | g.22190503G>T |
| Variant | c.1645+1G>T |
| Variant Start Position | 1645 |
| Location | Intron 15 |
| Amino Acid Change | Splice donor |
| ACMG Call | Pathogenic |
| ACMG Call Last Revised Date | 4/28/2021 |
| Predicted ACMG Call | nan | Effect Type | Splice donor |
| Variant Type | Splicing |
| PMID | 34806794 |
| Article Count | 1 |
| Times Observed | < 3 |
| Clinical Phenotype | Gait abnormalities, Bone and/or joint pain and/or joint stiffness, Tooth abscesses and/or excessive dental caries, Lower limb deformities, Short Stature |
| ACMG Categories | - |
| ACMG Explanations | - |
| Variant in Clinvar | nan |
| ClinVar Classification | nan |
| Categories In Literature | nan |
| No Contrary Evidence Found | nan |
| ExAC Allele Frequency | - |
| Thousand Genomes Allel Frequency | - |
| Ontology Relations | - |
| hg19 Mapping Failed | nan |
| Literature Alleles | - |
| GnomAD Alleles | - |
| DBNSFP Alleles | - |
| Other Alleles | - |
| Note | nan |
| Warnings | - |