Sponsored by Ultragenyx Pharmaceutical Inc.
| Variant ID | 111 |
|---|---|
| Genomic Coordinate (GRCh38) | g.22047191_22047192insC |
| Variant | c.329_330insC |
| Variant Start Position | 329 |
| Location | Exon 3 |
| Amino Acid Change | p.Val111Cysfs*2 |
| ACMG Call | - |
| ACMG Call Last Revised Date | 4/28/2021 |
| Predicted ACMG Call | Pathogenic | Effect Type | Frameshift |
| Variant Type | Small insertion |
| PMID | 9768674, 34806794 |
| Article Count | 2 |
| Times Observed | < 3 |
| Clinical Phenotype | - |
| ACMG Categories | pvs1, pm2, ppc |
| ACMG Explanations | pvs1: This is a loss of function variant. pm2: chrX:22065309 ref:A alt:AC 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-22065309-A-AC |
| GnomAD Alleles | - |
| DBNSFP Alleles | - |
| Other Alleles | - |
| Note | nan |
| Warnings | - |