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Variant ID | 603 |
---|---|
Genomic Coordinate (GRCh38) | g.22221649G>A |
Variant | c.1805G>A |
Variant Start Position | 1805 |
Location | Exon 18 |
Amino Acid Change | p.Trp602* |
ACMG Call | Pathogenic |
ACMG Call Last Revised Date | 4/28/2021 |
Predicted ACMG Call | Pathogenic | Effect Type | Nonsense |
Variant Type | SNV |
PMID | 25983897, 34806794 |
Article Count | 2 |
Times Observed | < 3 |
Clinical Phenotype | Short Stature, Fractures/Pseudo-Fractures, Lower Limb Deformities, Kidney Disease, Thyroid, Gait abnormalities, Bone and/or joint pain and/or joint stiffness, Tooth abscesses and/or excessive dental caries |
ACMG Categories | pvs1, pm2, pm6, pp1, ppc, ppc_het |
ACMG Explanations | pvs1: This is a loss of function variant. pm2: chrX:22239766 ref:G alt:A was not found in gnomAD exomes or genomes. chrX:22239767 ref:G alt:A was not found in gnomAD exomes or genomes. |
Variant in Clinvar | Yes |
ClinVar Classification | Pathogenic |
Categories In Literature | ppc, ppc_het, pm6, pp1 |
No Contrary Evidence Found | Yes |
ExAC Allele Frequency | - |
Thousand Genomes Allel Frequency | - |
Ontology Relations | - |
hg19 Mapping Failed | No |
Literature Alleles | X-22239766-G-A X-22239767-G-A |
GnomAD Alleles | - |
DBNSFP Alleles | X-22239766-G-A X-22239767-G-A |
Other Alleles | X-22239766-GG-AA |
Note | nan |
Warnings | - |