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| Variant ID | 392 |
|---|---|
| Genomic Coordinate (GRCh38) | g.22133523_22133624del |
| Variant | c.1303-?_1404+?del |
| Variant Start Position | 1303 |
| Location | Intron 11 |
| Amino Acid Change | Deletion (Exon 12) |
| ACMG Call | Pathogenic |
| ACMG Call Last Revised Date | 4/28/2021 |
| Predicted ACMG Call | Uncertain Significance | Effect Type | Deletion |
| Variant Type | CNV |
| PMID | 16636593, 32329911, 9199930, 32253725, 33666701, 34141703, 34806794 |
| Article Count | 7 |
| Times Observed | 6-10 |
| Clinical Phenotype | Fractures/Pseudo-Fractures, Gait Abnormalities, Lower Limb Deformities, Lower limb deformities, abnormal bone development, pectus carinatum, bowed or bent leg, short stature |
| ACMG Categories | - |
| ACMG Explanations | - |
| Variant in Clinvar | No |
| ClinVar Classification | - |
| 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 | - |