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Variant ID | 116 |
---|---|
Genomic Coordinate (GRCh38) | g.22047213T>C |
Variant | c.349+2T>C |
Variant Start Position | 349 |
Location | Intron 3 |
Amino Acid Change | p.? |
ACMG Call | Pathogenic |
ACMG Call Last Revised Date | 4/28/2021 |
Predicted ACMG Call | Pathogenic | Effect Type | Splice donor |
Variant Type | Splicing |
PMID | 19219621, 34141703, 34806794 |
Article Count | 3 |
Times Observed | < 3 |
Clinical Phenotype | Other Musculoskeletal Abnormalities, Lower Limb Deformities |
ACMG Categories | pvs1, pm2, ppc |
ACMG Explanations | pvs1: This is a loss of function variant. pm2: chrX:22065331 ref:T 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-22065331-T-C |
GnomAD Alleles | - |
DBNSFP Alleles | X-22065331-T-C |
Other Alleles | - |
Note | nan |
Warnings | - |