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Variant ID | 754 |
---|---|
Genomic Coordinate (GRCh38) | g.22245402C>T |
Variant | c.2140C>T |
Variant Start Position | 2140 |
Location | Exon 21 |
Amino Acid Change | p.Gln714* |
ACMG Call | - |
ACMG Call Last Revised Date | 4/28/2021 |
Predicted ACMG Call | Pathogenic | Effect Type | Nonsense |
Variant Type | SNV |
PMID | 16261449, 32329911, 34806794 |
Article Count | 3 |
Times Observed | 3-5 |
Clinical Phenotype | bone pain, bowed or bent legs |
ACMG Categories | pvs1, pm2, pp1 |
ACMG Explanations | pvs1: This is a loss of function variant. pm2: chrX:22263519 ref:C alt:T was not found in gnomAD exomes or genomes. |
Variant in Clinvar | Yes |
ClinVar Classification | Likely pathogenic |
Categories In Literature | pp1 |
No Contrary Evidence Found | Yes |
ExAC Allele Frequency | - |
Thousand Genomes Allel Frequency | - |
Ontology Relations | - |
hg19 Mapping Failed | No |
Literature Alleles | - |
GnomAD Alleles | - |
DBNSFP Alleles | X-22263519-C-T |
Other Alleles | X-22263519-CAG-TAA X-22263519-CAG-TGA |
Note | nan |
Warnings | - |