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Variant ID | 518 |
---|---|
Genomic Coordinate (GRCh38) | g.22212904G>C |
Variant | c.1646G>C |
Variant Start Position | 1646 |
Location | Exon 15 - 16 |
Amino Acid Change | p.Arg549Pro |
ACMG Call | Pathogenic |
ACMG Call Last Revised Date | 4/28/2021 |
Predicted ACMG Call | Likely Pathogenic | Effect Type | Missense |
Variant Type | SNV |
PMID | 22577109, 25839938, 18625346, 34806794 |
Article Count | 4 |
Times Observed | 6-10 |
Clinical Phenotype | Other Musculoskeletal Abnormalities, Bone and/or Joint Pain and/or Joint Stiffness, Fractures/Pseudo-Fractures, Lower Limb Deformities, Gait Abnormalities, Tooth Abscesses and/or Excessive Dental Caries, Short Stature |
ACMG Categories | pm2, pp1, ppc |
ACMG Explanations | pm2: chrX:22231021 ref:G alt:C was not found in gnomAD exomes or genomes. |
Variant in Clinvar | Yes |
ClinVar Classification | Pathogenic |
Categories In Literature | pp1, ppc |
No Contrary Evidence Found | Yes |
ExAC Allele Frequency | - |
Thousand Genomes Allel Frequency | - |
Ontology Relations | - |
hg19 Mapping Failed | No |
Literature Alleles | X-22231021-G-C |
GnomAD Alleles | - |
DBNSFP Alleles | X-22231021-G-C |
Other Alleles | X-22231021-GA-CG X-22231021-GA-CT X-22231021-GA-CC |
Note | nan |
Warnings | - |