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Variant ID | 177 |
---|---|
Genomic Coordinate (GRCh38) | g.22077576T>A |
Variant | c.537T>A |
Variant Start Position | 537 |
Location | Exon 5 |
Amino Acid Change | p.Val179= |
ACMG Call | - |
ACMG Call Last Revised Date | 4/28/2021 |
Predicted ACMG Call | Likely Benign | Effect Type | Synonymous |
Variant Type | SNV |
PMID | 9768674, 34806794 |
Article Count | 2 |
Times Observed | < 3 |
Clinical Phenotype | - |
ACMG Categories | ppc, bp7 |
ACMG Explanations | bp7: This is a synonymous variant. |
Variant in Clinvar | Yes |
ClinVar Classification | Benign/Likely benign |
Categories In Literature | ppc |
No Contrary Evidence Found | Yes |
ExAC Allele Frequency | - |
Thousand Genomes Allel Frequency | - |
Ontology Relations | - |
hg19 Mapping Failed | No |
Literature Alleles | - |
GnomAD Alleles | X-22095694-T-A |
DBNSFP Alleles | - |
Other Alleles | X-22095694-T-G X-22095694-T-C |
Note | nan |
Warnings | - |