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| Variant ID | 819 |
|---|---|
| Genomic Coordinate (GRCh38) | g.22047187_22047188dup |
| Variant | c.325_326dup |
| Variant Start Position | 325 |
| Location | Exon 3 |
| Amino Acid Change | p.Asn110Ilefs*7 |
| ACMG Call | - |
| ACMG Call Last Revised Date | 4/28/2021 |
| Predicted ACMG Call | Pathogenic | Effect Type | Frameshift |
| Variant Type | Small duplication |
| PMID | 33295632, 34806794 |
| Article Count | 2 |
| Times Observed | < 3 |
| Clinical Phenotype | - |
| ACMG Categories | pvs1, pm2, pp1 |
| ACMG Explanations | pvs1: This is a loss of function variant. pm2: chrX:22065303 ref:G alt:GAC was not found in gnomAD exomes or genomes. |
| Variant in Clinvar | No |
| ClinVar Classification | - |
| Categories In Literature | pp1 |
| No Contrary Evidence Found | TRUE |
| ExAC Allele Frequency | - |
| Thousand Genomes Allel Frequency | - |
| Ontology Relations | - |
| hg19 Mapping Failed | FALSE |
| Literature Alleles | X-22065303-G-GAC |
| GnomAD Alleles | - |
| DBNSFP Alleles | - |
| Other Alleles | - |
| Note | nan |
| Warnings | - |