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| Variant ID | 347 |
|---|---|
| Genomic Coordinate (GRCh38) | g.22111539dup |
| Variant | c.1152dup |
| Variant Start Position | 1152 |
| Location | Exon 10 |
| Amino Acid Change | p.Arg385* |
| ACMG Call | - |
| ACMG Call Last Revised Date | 4/28/2021 |
| Predicted ACMG Call | Pathogenic | Effect Type | Frameshift |
| Variant Type | Small insertion |
| PMID | 23813354, 23813354, 34806794 |
| Article Count | 3 |
| Times Observed | < 3 |
| Clinical Phenotype | - |
| ACMG Categories | pvs1, pm2 |
| ACMG Explanations | pvs1: This is a loss of function variant. pm2: chrX:22129658 ref:A alt:T was not found in gnomAD exomes or genomes. chrX:22129656 ref:A alt:AT was not found in gnomAD exomes or genomes. |
| Variant in Clinvar | No |
| ClinVar Classification | - |
| Categories In Literature | - |
| No Contrary Evidence Found | Yes |
| ExAC Allele Frequency | - |
| Thousand Genomes Allel Frequency | - |
| Ontology Relations | - |
| hg19 Mapping Failed | No |
| Literature Alleles | X-22129656-A-AT |
| GnomAD Alleles | - |
| DBNSFP Alleles | X-22129658-A-T |
| Other Alleles | X-22129658-AGA-TAG X-22129658-AG-TA |
| Note | nan |
| Warnings | - |