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Variant ID | 761 |
---|---|
Genomic Coordinate (GRCh38) | g.22247852del |
Variant | c.2149del |
Variant Start Position | 2149 |
Location | Exon 22 |
Amino Acid Change | p.Val717Serfs*23 |
ACMG Call | Pathogenic |
ACMG Call Last Revised Date | 4/28/2021 |
Predicted ACMG Call | Pathogenic | Effect Type | Frameshift |
Variant Type | Small deletion |
PMID | 16636593, 10439971, 34806794 |
Article Count | 3 |
Times Observed | < 3 |
Clinical Phenotype | Other Musculoskeletal Abnormalities |
ACMG Categories | pvs1, pm2, ppc |
ACMG Explanations | pvs1: This is a loss of function variant. pm2: chrX:22265966 ref:AG 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-22265966-AG-A |
GnomAD Alleles | - |
DBNSFP Alleles | - |
Other Alleles | - |
Note | nan |
Warnings | - |