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Variant ID | 50 |
---|---|
Genomic Coordinate (GRCh38) | g.22038501C>T |
Variant | c.151C>T |
Variant Start Position | 151 |
Location | Exon 2 |
Amino Acid Change | p.Gln51* |
ACMG Call | Pathogenic |
ACMG Call Last Revised Date | 4/28/2021 |
Predicted ACMG Call | Pathogenic | Effect Type | Nonsense |
Variant Type | SNV |
PMID | 25839938, 11502829, 31485552, 9097956, 16636593, 34806794 |
Article Count | 6 |
Times Observed | 6-10 |
Clinical Phenotype | Tooth Abscesses and/or Excessive Dental Caries, Lower Limb Deformities |
ACMG Categories | pvs1, pm2, pp1, ppc |
ACMG Explanations | pvs1: This is a loss of function variant. pm2: chrX:22056619 ref:C alt:T 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-22056619-C-T |
GnomAD Alleles | - |
DBNSFP Alleles | X-22056619-C-T |
Other Alleles | X-22056619-CAG-TGA X-22056619-CAG-TAA |
Note | nan |
Warnings | - |