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Variant ID | 811 |
---|---|
Genomic Coordinate (GRCh38) | g.22248011C>T |
Variant | c.*58C>T |
Variant Start Position | 2318 |
Location | 3' UTR |
Amino Acid Change | p.? |
ACMG Call | - |
ACMG Call Last Revised Date | 4/28/2021 |
Predicted ACMG Call | Likely Benign | Effect Type | Untranslated region |
Variant Type | SNV |
PMID | 18625346, 34806794 |
Article Count | 2 |
Times Observed | < 3 |
Clinical Phenotype | - |
ACMG Categories | ppc_compound |
ACMG Explanations | - |
Variant in Clinvar | Yes |
ClinVar Classification | Benign |
Categories In Literature | ppc_compound |
No Contrary Evidence Found | Yes |
ExAC Allele Frequency | - |
Thousand Genomes Allel Frequency | - |
Ontology Relations | - |
hg19 Mapping Failed | No |
Literature Alleles | X-22266128-C-T |
GnomAD Alleles | X-22266128-C-T |
DBNSFP Alleles | - |
Other Alleles | - |
Note | nan |
Warnings | - |