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Variant ID | 27 |
---|---|
Genomic Coordinate (GRCh38) | g.22033063C>T |
Variant | c.58C>T |
Variant Start Position | 58 |
Location | Exon 1 |
Amino Acid Change | p.Arg20* |
ACMG Call | Pathogenic |
ACMG Call Last Revised Date | 4/28/2021 |
Predicted ACMG Call | Pathogenic | Effect Type | Nonsense |
Variant Type | SNV |
PMID | 10439971, 9199930, 11502829, 23079138, 20157195, 16055933, 21050253, 15057978, 24857004, 9097956, 16636593, 24926462, 25894638, 18162710, 30599486,10874297, 34141703, 34806794 |
Article Count | 18 |
Times Observed | 11-20 |
Clinical Phenotype | Other Musculoskeletal Abnormalities, Short Stature, Lower limb deformities, Lower Limb Deformities, Gait Abnormalities, Gait abnormalities, Skull Deformities |
ACMG Categories | pvs1, ps4m, pm2, pp1, ppc |
ACMG Explanations | pvs1: This is a loss of function variant. pm2: chrX:22051181 ref:C alt:T was not found in gnomAD exomes or genomes. |
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-22051181-C-T |
GnomAD Alleles | - |
DBNSFP Alleles | X-22051181-C-T |
Other Alleles | X-22051181-CG-TA X-22051181-CGA-TAG |
Note | nan |
Warnings | - |