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Variant ID | 218 |
---|---|
Genomic Coordinate (GRCh38) | g.22090498_22090499del |
Variant | c.732+1_732+2del |
Variant Start Position | 732 |
Location | Intron 6 |
Amino Acid Change | p.? |
ACMG Call | - |
ACMG Call Last Revised Date | 4/28/2021 |
Predicted ACMG Call | Pathogenic | Effect Type | Splice donor |
Variant Type | Small deletion |
PMID | 27884786, 19219621, 32253725, 34806794 |
Article Count | 4 |
Times Observed | 3-5 |
Clinical Phenotype | Other Musculoskeletal Abnormalities, bowed or bent legs, Lower Limb Deformities, dental abscesses, abnormal bone development, short stature |
ACMG Categories | pvs1, pm2, ppc |
ACMG Explanations | pvs1: This is a loss of function variant. pm2: chrX:22108614 ref:CTG alt:C 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-22108614-CTG-C |
GnomAD Alleles | - |
DBNSFP Alleles | - |
Other Alleles | - |
Note | nan |
Warnings | - |