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| Variant ID | 708 |
|---|---|
| Genomic Coordinate (GRCh38) | g.22227601_22227604dup |
| Variant | c.2060_2063dup |
| Variant Start Position | 2063 |
| Location | Exon 20 |
| Amino Acid Change | p.Tyr688* |
| ACMG Call | Pathogenic |
| ACMG Call Last Revised Date | 4/28/2021 |
| Predicted ACMG Call | Conflict | Effect Type | Nonsense |
| Variant Type | Small insertion |
| PMID | 19219621, 33666701, 34806794 |
| Article Count | 3 |
| Times Observed | 6-10 |
| Clinical Phenotype | - |
| ACMG Categories | - |
| ACMG Explanations | - |
| Variant in Clinvar | Yes |
| ClinVar Classification | Pathogenic |
| 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 | PMID 19219621 reports this as c.2063_2064insGTTA instead of c.2060_2063dupGTTA. It is the same variant. This patient count includes variant c.2060_2063 from Genomenon's patient database V3 |
| Warnings | - |