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Variant ID | 230 |
---|---|
Genomic Coordinate (GRCh38) | g.22094000C>G |
Variant | c.750C>G |
Variant Start Position | 750 |
Location | Exon 7 |
Amino Acid Change | p.Tyr250* |
ACMG Call | Pathogenic |
ACMG Call Last Revised Date | 4/28/2021 |
Predicted ACMG Call | Pathogenic | Effect Type | Nonsense |
Variant Type | SNV |
PMID | 21902834, 34806794 |
Article Count | 2 |
Times Observed | < 3 |
Clinical Phenotype | Short Stature, Other Musculoskeletal Abnormalities |
ACMG Categories | pvs1, pm2, ppc |
ACMG Explanations | pvs1: This is a loss of function variant. pm2: chrX:22112118 ref:C alt:G was not found in gnomAD exomes or genomes. chrX:22112118 ref:C alt:A was not found in gnomAD exomes or genomes. |
Variant in Clinvar | No |
ClinVar Classification | - |
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-22112118-C-G X-22112118-C-A |
GnomAD Alleles | - |
DBNSFP Alleles | X-22112118-C-G X-22112118-C-A |
Other Alleles | X-22112117-AC-GA |
Note | nan |
Warnings | - |