Sponsored by Ultragenyx Pharmaceutical Inc.
Variant ID | 611 |
---|---|
Genomic Coordinate (GRCh38) | g.22221669G>T |
Variant | c.1825G>T |
Variant Start Position | 1825 |
Location | Exon 18 |
Amino Acid Change | p.Glu609* |
ACMG Call | - |
ACMG Call Last Revised Date | 4/28/2021 |
Predicted ACMG Call | Pathogenic | Effect Type | Nonsense |
Variant Type | SNV |
PMID | 21902834, 24926462, 23079138, 21293852, 34806794 |
Article Count | 5 |
Times Observed | < 3 |
Clinical Phenotype | Short Stature, Other Musculoskeletal Abnormalities |
ACMG Categories | pvs1, pm2, ppc |
ACMG Explanations | pvs1: This is a loss of function variant. pm2: chrX:22239786 ref:G alt:T 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-22239786-G-T |
GnomAD Alleles | - |
DBNSFP Alleles | X-22239786-G-T |
Other Alleles | X-22239786-GA-TG X-22239786-GAA-TAG |
Note | nan |
Warnings | - |