Sponsored by Ultragenyx Pharmaceutical Inc.
Variant ID | 246 |
---|---|
Genomic Coordinate (GRCh38) | g.22094080T>A |
Variant | c.830T>A |
Variant Start Position | 830 |
Location | Exon 7 |
Amino Acid Change | p.Leu277* |
ACMG Call | - |
ACMG Call Last Revised Date | 4/28/2021 |
Predicted ACMG Call | Pathogenic | Effect Type | Nonsense |
Variant Type | SNV |
PMID | 11502829, 23079138, 9106524, 16636593, 24926462, 34806794 |
Article Count | 6 |
Times Observed | < 3 |
Clinical Phenotype | Tooth Abscesses and/or Excessive Dental Caries, Lower Limb Deformities |
ACMG Categories | pvs1, pm2, ppc |
ACMG Explanations | pvs1: This is a loss of function variant. pm2: chrX:22112198 ref:T alt:A was not found in gnomAD exomes or genomes. |
Variant in Clinvar | Yes |
ClinVar Classification | Pathogenic |
Categories In Literature | ppc |
No Contrary Evidence Found | Yes |
ExAC Allele Frequency | - |
Thousand Genomes Allel Frequency | - |
Ontology Relations | - |
hg19 Mapping Failed | No |
Literature Alleles | X-22112198-T-A |
GnomAD Alleles | - |
DBNSFP Alleles | X-22112198-T-A |
Other Alleles | X-22112198-TG-GA X-22112198-TG-AA |
Note | nan |
Warnings | - |