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Variant ID | 460 |
---|---|
Genomic Coordinate (GRCh38) | g.22178281 |
Variant | c.? |
Variant Start Position | 1488 |
Location | Exon 14 |
Amino Acid Change | p.Lys496* |
ACMG Call | - |
ACMG Call Last Revised Date | 2022-02-02 00:00:00 |
Predicted ACMG Call | Pathogenic | Effect Type | Nonsense |
Variant Type | SNV |
PMID | 23700148, 29381780, 22573557, 22006791, 28005411, 34806794 |
Article Count | 6 |
Times Observed | 3-5 |
Clinical Phenotype | - |
ACMG Categories | pvs1, ps3, pm2 |
ACMG Explanations | pvs1: This is a loss of function variant. pm2: chrX:22196393 ref:A alt:T was not found in gnomAD exomes or genomes. |
Variant in Clinvar | No |
ClinVar Classification | - |
Categories In Literature | ps3 |
No Contrary Evidence Found | Yes |
ExAC Allele Frequency | - |
Thousand Genomes Allel Frequency | - |
Ontology Relations | 22006791: fx/upregulation of secondary protein 22006791: assay/real-time quantitative pcr 22006791: model/live mouse model 22006791: flg/gain of function 23700148: model/live mouse model 22573557: model/live mouse model |
hg19 Mapping Failed | No |
Literature Alleles | - |
GnomAD Alleles | - |
DBNSFP Alleles | X-22196393-A-T |
Other Alleles | X-22196393-AAG-TAA X-22196393-AAG-TGA |
Note | cDNA is not provided |
Warnings | - |