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Variant ID | 263 |
---|---|
Genomic Coordinate (GRCh38) | g.22096976C>T |
Variant | c.871C>T |
Variant Start Position | 871 |
Location | Exon 8 |
Amino Acid Change | p.Arg291* |
ACMG Call | Pathogenic |
ACMG Call Last Revised Date | 4/28/2021 |
Predicted ACMG Call | Pathogenic | Effect Type | Nonsense |
Variant Type | SNV |
PMID | 10439971, 9199930, 33358363, 30607568, 23466123, 29460029, 9768674, 32133333, 33639975, 32329911, 11502829, 26040324, 28506344, 11004247, 19219621, 33295632, 29707405, 16636593, 33537138, 22161748, 10874297, 34141703, 27840894, 34806794 |
Article Count | 24 |
Times Observed | 30+ |
Clinical Phenotype | Other Musculoskeletal Abnormalities, Short Stature, Cardio Vascular Disease, Lower Limb Deformities, Gait Abnormalities, Fractures/Pseudo-Fractures, Reduced Serum Phosphate, Tooth Abscesses and/or Excessive Dental Caries, Skull Deformities, Vision, genu varum, teeth falling out |
ACMG Categories | pvs1, ps4m, pm2, pp1, ppc |
ACMG Explanations | pvs1: This is a loss of function variant. pm2: The allele frequency for chrX:22115094 ref:C alt:T is less than 0.0005 for all populations in gnomAD exomes. |
Variant in Clinvar | Yes |
ClinVar Classification | Pathogenic |
Categories In Literature | ppc, pp1, ps4m |
No Contrary Evidence Found | Yes |
ExAC Allele Frequency | - |
Thousand Genomes Allel Frequency | - |
Ontology Relations | - |
hg19 Mapping Failed | No |
Literature Alleles | X-22115094-C-T |
GnomAD Alleles | X-22115094-C-T |
DBNSFP Alleles | X-22115094-C-T |
Other Alleles | X-22115094-CGA-TAG X-22115094-CG-TA |
Note | nan |
Warnings | - |