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Variant ID | 443 |
---|---|
Genomic Coordinate (GRCh38) | g.22168341T>A |
Variant | c.1434T>A |
Variant Start Position | 1434 |
Location | Exon 13 |
Amino Acid Change | p.Tyr478* |
ACMG Call | Pathogenic |
ACMG Call Last Revised Date | 4/28/2021 |
Predicted ACMG Call | Pathogenic | Effect Type | Nonsense |
Variant Type | SNV |
PMID | 16636593, 9097956, 19219621, 34806794 |
Article Count | 4 |
Times Observed | 3-5 |
Clinical Phenotype | Other Musculoskeletal Abnormalities, Lower Limb Deformities |
ACMG Categories | pvs1, pm2, ppc |
ACMG Explanations | pvs1: This is a loss of function variant. pm2: chrX:22186458 ref:T alt:A was not found in gnomAD exomes or genomes. chrX:22186458 ref:T alt:G was not found in gnomAD exomes or genomes. |
Variant in Clinvar | Yes |
ClinVar Classification | Pathogenic |
Categories In Literature | ppc |
No Contrary Evidence Found | Yes |
ExAC Allele Frequency | - |
Thousand Genomes Allel Frequency | - |
Ontology Relations | - |
hg19 Mapping Failed | No |
Literature Alleles | X-22186458-T-A |
GnomAD Alleles | - |
DBNSFP Alleles | X-22186458-T-A X-22186458-T-G |
Other Alleles | X-22186457-AT-GA |
Note | nan |
Warnings | - |