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| Variant ID | 426 |
|---|---|
| Genomic Coordinate (GRCh38) | g.22133619G>T |
| Variant | c.1399G>T |
| Variant Start Position | 1399 |
| Location | Exon 12 |
| Amino Acid Change | p.Glu467* |
| ACMG Call | Pathogenic |
| ACMG Call Last Revised Date | 4/28/2021 |
| Predicted ACMG Call | Pathogenic | Effect Type | Nonsense |
| Variant Type | SNV |
| PMID | 16636593, 34141703, 34806794 |
| Article Count | 3 |
| Times Observed | < 3 |
| Clinical Phenotype | Gait Abnormalities, Lower Limb Deformities |
| ACMG Categories | pvs1, pm2 |
| ACMG Explanations | pvs1: This is a loss of function variant. pm2: chrX:22151736 ref:G alt:T was not found in gnomAD exomes or genomes. |
| Variant in Clinvar | Yes |
| ClinVar Classification | Pathogenic |
| Categories In Literature | - |
| No Contrary Evidence Found | Yes |
| ExAC Allele Frequency | - |
| Thousand Genomes Allel Frequency | - |
| Ontology Relations | - |
| hg19 Mapping Failed | No |
| Literature Alleles | X-22151736-G-T |
| GnomAD Alleles | - |
| DBNSFP Alleles | X-22151736-G-T |
| Other Alleles | X-22151736-GA-TG X-22151736-GAA-TAG |
| Note | nan |
| Warnings | - |