Sponsored by Ultragenyx Pharmaceutical Inc.
Variant ID | 872 |
---|---|
Genomic Coordinate (GRCh38) | g.22190446G>A |
Variant | c.1589G>A |
Variant Start Position | 1589 |
Location | Exon 15 |
Amino Acid Change | p.Trp530* |
ACMG Call | Pathogenic |
ACMG Call Last Revised Date | 4/28/2021 |
Predicted ACMG Call | Pathogenic | Effect Type | Nonsense |
Variant Type | SNV |
PMID | 34141703, 34806794 |
Article Count | 2 |
Times Observed | < 3 |
Clinical Phenotype | - |
ACMG Categories | - |
ACMG Explanations | - |
Variant in Clinvar | Yes |
ClinVar Classification | Likely pathogenic |
Categories In Literature | - |
No Contrary Evidence Found | No |
ExAC Allele Frequency | - |
Thousand Genomes Allel Frequency | - |
Ontology Relations | - |
hg19 Mapping Failed | - |
Literature Alleles | - |
GnomAD Alleles | - |
DBNSFP Alleles | - |
Other Alleles | - |
Note | nan |
Warnings | - |