Sponsored by Ultragenyx Pharmaceutical Inc.
Variant ID | 286 |
---|---|
Genomic Coordinate (GRCh38) | g.22099014G>A |
Variant | c.942G>A |
Variant Start Position | 942 |
Location | Exon 9 |
Amino Acid Change | p.Trp314* |
ACMG Call | Pathogenic |
ACMG Call Last Revised Date | 4/28/2021 |
Predicted ACMG Call | Pathogenic | Effect Type | Nonsense |
Variant Type | SNV |
PMID | 16636593, 34806794 |
Article Count | 2 |
Times Observed | < 3 |
Clinical Phenotype | Lower Limb Deformities, Gait abnormalities, Tooth Abscesses and/or Excessive Dental Caries, Lower limb deformities |
ACMG Categories | - |
ACMG Explanations | - |
Variant in Clinvar | Yes |
ClinVar Classification | Pathogenic |
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 | - |