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Variant ID | 804 |
---|---|
Genomic Coordinate (GRCh38) | g.22247947_22247948del |
Variant | c.2244_2245del |
Variant Start Position | 2244 |
Location | Exon 22 |
Amino Acid Change | p.Trp749Valfs*44 |
ACMG Call | - |
ACMG Call Last Revised Date | 4/28/2021 |
Predicted ACMG Call | Pathogenic | Effect Type | Frameshift |
Variant Type | Small deletion |
PMID | 28383812, 34806794 |
Article Count | 2 |
Times Observed | < 3 |
Clinical Phenotype | Lower Limb Deformities |
ACMG Categories | pvs1, ps2, pm2, ppc_het |
ACMG Explanations | pvs1: This is a loss of function variant. pm2: No frameshift variants were found in gnomAD exomes or genomes at this position. |
Variant in Clinvar | No |
ClinVar Classification | - |
Categories In Literature | ppc_het, ps2, pp3 |
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 | - |