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Variant ID | 370 |
---|---|
Genomic Coordinate (GRCh38) | g.22114493G>A |
Variant | c.1209G>A |
Variant Start Position | 1209 |
Location | Exon 11 |
Amino Acid Change | p.Trp403* |
ACMG Call | Pathogenic |
ACMG Call Last Revised Date | 4/28/2021 |
Predicted ACMG Call | Pathogenic | Effect Type | Nonsense |
Variant Type | SNV |
PMID | 30920082, 15057978, 9097956, 16636593, 34806794 |
Article Count | 5 |
Times Observed | 11-20 |
Clinical Phenotype | Short Stature, Bone and/or Joint Pain and/or Joint Stiffness, Lower Limb Deformities, Tooth Abscesses and/or Excessive Dental Caries |
ACMG Categories | pvs1, ps3, pm2, pp1, ppc |
ACMG Explanations | pvs1: This is a loss of function variant. pm2: chrX:22132610 ref:G alt:A was not found in gnomAD exomes or genomes. chrX:22132611 ref:G alt:A was not found in gnomAD exomes or genomes. |
Variant in Clinvar | Yes |
ClinVar Classification | Pathogenic |
Categories In Literature | ppc, ps3, pp1 |
No Contrary Evidence Found | Yes |
ExAC Allele Frequency | - |
Thousand Genomes Allel Frequency | - |
Ontology Relations | 30920082: fx/upregulation of secondary protein 30920082: fx/decrease in phosphorylation of secondary protein 30920082: assay/real-time quantitative pcr 30920082: assay/western blot 30920082: method/sirna knockdown 30920082: method/expression vector 30920082: method/site-directed mutagenesis 30920082: model/patient rna sample 30920082: model/human cell line, not patient derived 30920082: flg/gain of function 30920082: flg/partial loss of function |
hg19 Mapping Failed | No |
Literature Alleles | X-22132610-G-A X-22132611-G-A |
GnomAD Alleles | - |
DBNSFP Alleles | X-22132610-G-A X-22132611-G-A |
Other Alleles | X-22132610-GG-AA |
Note | nan |
Warnings | - |