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Variant ID | 810 |
---|---|
Genomic Coordinate (GRCh38) | g.22247953G>C |
Variant | c.2250G>C |
Variant Start Position | 2250 |
Location | Exon 22 |
Amino Acid Change | p.*750Tyrext*9 |
ACMG Call | Likely Pathogenic |
ACMG Call Last Revised Date | 4/28/2021 |
Predicted ACMG Call | Uncertain Significance | Effect Type | Extension |
Variant Type | SNV |
PMID | 26051471, 34806794 |
Article Count | 2 |
Times Observed | < 3 |
Clinical Phenotype | Other Musculoskeletal Abnormalities, Lower Limb Deformities |
ACMG Categories | pm2, ppc |
ACMG Explanations | pm2: No extension variants were found in gnomAD exomes or genomes at this position. |
Variant in Clinvar | Yes |
ClinVar Classification | Likely 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 | - |
GnomAD Alleles | - |
DBNSFP Alleles | - |
Other Alleles | - |
Note | nan |
Warnings | Could not get protein pos and ref for variant id: phex:X750ext. |