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| Variant ID | 830 |
|---|---|
| Genomic Coordinate (GRCh38) | g.22077653G>C |
| Variant | c.614G>C |
| Variant Start Position | 614 |
| Location | Exon 5 |
| Amino Acid Change | p.Arg205Pro |
| ACMG Call | - |
| ACMG Call Last Revised Date | 4/28/2021 |
| Predicted ACMG Call | Likely Pathogenic | Effect Type | Missense |
| Variant Type | SNV |
| PMID | 29901142, 34141703, 34806794 |
| Article Count | 3 |
| Times Observed | < 3 |
| Clinical Phenotype | - |
| ACMG Categories | pm2, pp1 |
| ACMG Explanations | pm2: chrX:22095771 ref:G alt:C 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 | 0 |
| Thousand Genomes Allel Frequency | 0 |
| Ontology Relations | - |
| hg19 Mapping Failed | FALSE |
| Literature Alleles | X-22095771-G-C |
| GnomAD Alleles | - |
| DBNSFP Alleles | X-22095771-G-C |
| Other Alleles | X-22095771-GT-CA X-22095771-GT-CC X-22095771-GT-CG |
| Note | nan |
| Warnings | - |