Sponsored by Ultragenyx Pharmaceutical Inc.
| Variant ID | 464 |
|---|---|
| Genomic Coordinate (GRCh38) | g.22178310T>C |
| Variant | c.1520T>C |
| Variant Start Position | 1520 |
| Location | Exon 14 |
| Amino Acid Change | p.Leu507Pro |
| ACMG Call | Uncertain Significance |
| ACMG Call Last Revised Date | 4/28/2021 |
| Predicted ACMG Call | - | Effect Type | Missense |
| Variant Type | SNV |
| PMID | 34806794 |
| Article Count | 1 |
| Times Observed | 3-5 |
| Clinical Phenotype | - |
| ACMG Categories | - |
| ACMG Explanations | - |
| Variant in Clinvar | Yes |
| ClinVar Classification | Uncertain/conflicting |
| Categories In Literature | - |
| No Contrary Evidence Found | No |
| ExAC Allele Frequency | - |
| Thousand Genomes Allel Frequency | - |
| Ontology Relations | - |
| hg19 Mapping Failed | No |
| Literature Alleles | - |
| GnomAD Alleles | - |
| DBNSFP Alleles | - |
| Other Alleles | - |
| Note | nan |
| Warnings | - |