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Variant ID | 562 |
---|---|
Genomic Coordinate (GRCh38) | g.22219053C>A |
Variant | c.1718C>A |
Variant Start Position | 1718 |
Location | Exon 17 |
Amino Acid Change | p.Ala573Asp |
ACMG Call | - |
ACMG Call Last Revised Date | 4/28/2021 |
Predicted ACMG Call | Likely Pathogenic | Effect Type | Missense |
Variant Type | SNV |
PMID | 10439971, 16636593, 24926462, 23079138, 34806794 |
Article Count | 5 |
Times Observed | < 3 |
Clinical Phenotype | Other Musculoskeletal Abnormalities |
ACMG Categories | pm2, pp3, ppc |
ACMG Explanations | pm2: chrX:22237170 ref:C alt:A was not found in gnomAD exomes or genomes. pp3: The SIFT, MutationTaster, and PolyPhen predictions agree that this variant is possibly or probably damaging. |
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-22237170-C-A |
GnomAD Alleles | - |
DBNSFP Alleles | X-22237170-C-A |
Other Alleles | X-22237170-CT-AC |
Note | nan |
Warnings | - |