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Variant ID | 18 |
---|---|
Genomic Coordinate (GRCh38) | g.22033009G>T |
Variant | c.4G>T |
Variant Start Position | 4 |
Location | Exon 1 |
Amino Acid Change | p.Glu2* |
ACMG Call | - |
ACMG Call Last Revised Date | 4/28/2021 |
Predicted ACMG Call | Pathogenic | Effect Type | Nonsense |
Variant Type | SNV |
PMID | 26051471, 34806794 |
Article Count | 2 |
Times Observed | 3-5 |
Clinical Phenotype | Other Musculoskeletal Abnormalities, Short Stature, Lower Limb Deformities, Tooth Abscesses and/or Excessive Dental Caries |
ACMG Categories | pvs1, ps4m, pm2 |
ACMG Explanations | pvs1: This is a loss of function variant. pm2: chrX:22051127 ref:G alt:T was not found in gnomAD exomes or genomes. |
Variant in Clinvar | No |
ClinVar Classification | - |
Categories In Literature | ps4m |
No Contrary Evidence Found | Yes |
ExAC Allele Frequency | - |
Thousand Genomes Allel Frequency | - |
Ontology Relations | - |
hg19 Mapping Failed | No |
Literature Alleles | X-22051127-G-T |
GnomAD Alleles | - |
DBNSFP Alleles | X-22051127-G-T |
Other Alleles | X-22051127-GA-TG X-22051127-GAA-TAG |
Note | nan |
Warnings | - |