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Variant ID | 528 |
---|---|
Genomic Coordinate (GRCh38) | g.22212924C>T |
Variant | c.1666C>T |
Variant Start Position | 1666 |
Location | Exon 16 |
Amino Acid Change | p.Gln556* |
ACMG Call | Pathogenic |
ACMG Call Last Revised Date | 4/28/2021 |
Predicted ACMG Call | Pathogenic | Effect Type | Nonsense |
Variant Type | SNV |
PMID | 31658436, 32253725, 34806794 |
Article Count | 3 |
Times Observed | 3-5 |
Clinical Phenotype | abnormal bone development, bowed or bent leg, short stature |
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 | - |