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| Variant ID | 587 |
|---|---|
| Genomic Coordinate (GRCh38) | g.22219280_22219283dup |
| Variant | c.1768+177_1768+180dup |
| Variant Start Position | 1768 |
| Location | Intron 17 |
| Amino Acid Change | p.? |
| ACMG Call | - |
| ACMG Call Last Revised Date | 4/28/2021 |
| Predicted ACMG Call | Uncertain Significance | Effect Type | Intronic |
| Variant Type | Splicing |
| PMID | 24926462, 21902834, 34806794 |
| Article Count | 3 |
| Times Observed | < 3 |
| Clinical Phenotype | Short Stature, Other Musculoskeletal Abnormalities |
| ACMG Categories | pm2, ppc |
| ACMG Explanations | pm2: chrX:22237393 ref:A alt:ATAAG was not found in gnomAD exomes or genomes. |
| Variant in Clinvar | No |
| ClinVar Classification | - |
| Categories In Literature | ppc |
| No Contrary Evidence Found | Yes |
| ExAC Allele Frequency | - |
| Thousand Genomes Allel Frequency | - |
| Ontology Relations | - |
| hg19 Mapping Failed | No |
| Literature Alleles | X-22237393-A-ATAAG |
| GnomAD Alleles | - |
| DBNSFP Alleles | - |
| Other Alleles | - |
| Note | nan |
| Warnings | - |