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Variant ID | 184 |
---|---|
Genomic Coordinate (GRCh38) | g.22077604C>T |
Variant | c.565C>T |
Variant Start Position | 565 |
Location | Exon 5 |
Amino Acid Change | p.Gln189* |
ACMG Call | - |
ACMG Call Last Revised Date | 4/28/2021 |
Predicted ACMG Call | Pathogenic | Effect Type | Nonsense |
Variant Type | SNV |
PMID | 16261449, 23079138, 12414858, 24926462, 21902834, 16636593, 33796255, 34806794 |
Article Count | 8 |
Times Observed | 3-5 |
Clinical Phenotype | Short Stature, Other Musculoskeletal Abnormalities, pain |
ACMG Categories | pvs1, pm2, ppc |
ACMG Explanations | pvs1: This is a loss of function variant. pm2: chrX:22095722 ref:C alt:T 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-22095722-C-T |
GnomAD Alleles | - |
DBNSFP Alleles | X-22095722-C-T |
Other Alleles | X-22095722-CAG-TAA X-22095722-CAG-TGA |
Note | nan |
Warnings | - |