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| Variant ID | 69 |
|---|---|
| Genomic Coordinate (GRCh38) | g.22047003C>T |
| Variant | c.188-47C>T |
| Variant Start Position | 188 |
| Location | Intron 2 |
| Amino Acid Change | p.? |
| ACMG Call | - |
| ACMG Call Last Revised Date | 4/28/2021 |
| Predicted ACMG Call | Benign | Effect Type | Intronic |
| Variant Type | Splicing |
| PMID | 19219621, 34806794 |
| Article Count | 2 |
| Times Observed | < 3 |
| Clinical Phenotype | - |
| ACMG Categories | bs1, ba1 |
| ACMG Explanations | bs1: The overall allele frequency for chrX:22065121 ref:C alt:T is 0.171 in gnomAD exomes. ba1: The overall allele frequency for chrX:22065121 ref:C alt:T is 0.171 in gnomAD exomes. |
| Variant in Clinvar | No |
| ClinVar Classification | - |
| Categories In Literature | bs1 |
| No Contrary Evidence Found | Yes |
| ExAC Allele Frequency | - |
| Thousand Genomes Allel Frequency | - |
| Ontology Relations | - |
| hg19 Mapping Failed | No |
| Literature Alleles | X-22065121-C-T |
| GnomAD Alleles | X-22065121-C-T |
| DBNSFP Alleles | - |
| Other Alleles | - |
| Note | nan |
| Warnings | - |