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Variant ID | 491 |
---|---|
Genomic Coordinate (GRCh38) | g.22190447G>A |
Variant | c.1590G>A |
Variant Start Position | 1590 |
Location | Exon 15 |
Amino Acid Change | p.Trp530* |
ACMG Call | Pathogenic |
ACMG Call Last Revised Date | 4/28/2021 |
Predicted ACMG Call | Pathogenic | Effect Type | Nonsense |
Variant Type | SNV |
PMID | 9768674, 16636593, 34806794 |
Article Count | 3 |
Times Observed | < 3 |
Clinical Phenotype | - |
ACMG Categories | pvs1, pm2, ppc |
ACMG Explanations | pvs1: This is a loss of function variant. pm2: chrX:22208564 ref:G alt:A was not found in gnomAD exomes or genomes. chrX:22208563 ref:G 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-22208564-G-A |
GnomAD Alleles | - |
DBNSFP Alleles | X-22208564-G-A X-22208563-G-A |
Other Alleles | X-22208563-GG-AA |
Note | nan |
Warnings | - |