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| Variant ID | 906 |
|---|---|
| Genomic Coordinate (GRCh38) | g.22227589T>A |
| Variant | c.2048T>A |
| Variant Start Position | 2048 |
| Location | Exon 20 |
| Amino Acid Change | p.Leu683His |
| ACMG Call | - |
| ACMG Call Last Revised Date | 4/28/2021 |
| Predicted ACMG Call | Likely Pathogenic | Effect Type | Missense |
| Variant Type | SNV |
| PMID | 29707405, 34806794 |
| Article Count | 2 |
| Times Observed | < 3 |
| Clinical Phenotype | - |
| ACMG Categories | pm2, pp3, ppc |
| ACMG Explanations | pm2: chrX:22245706 ref:T alt:A was not found in gnomAD exomes or genomes. pp3: The SIFT, MutationTaster, and PolyPhen predictions agree that this variant is possibly or probably damaging. |
| Variant in Clinvar | No |
| ClinVar Classification | - |
| Categories In Literature | ppc |
| No Contrary Evidence Found | TRUE |
| ExAC Allele Frequency | 0 |
| Thousand Genomes Allel Frequency | 0 |
| Ontology Relations | - |
| hg19 Mapping Failed | FALSE |
| Literature Alleles | X-22245706-T-A |
| GnomAD Alleles | - |
| DBNSFP Alleles | X-22245706-T-A |
| Other Alleles | X-22245706-TC-AT |
| Note | nan |
| Warnings | - |