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Variant ID | 454 |
---|---|
Genomic Coordinate (GRCh38) | g.22178272G>A |
Variant | c.1483-1G>A |
Variant Start Position | 1483 |
Location | Intron 13 |
Amino Acid Change | p.? |
ACMG Call | Pathogenic |
ACMG Call Last Revised Date | 4/28/2021 |
Predicted ACMG Call | Pathogenic | Effect Type | Splice acceptor |
Variant Type | Splicing |
PMID | 22577109, 33295632, 34806794 |
Article Count | 3 |
Times Observed | 6-10 |
Clinical Phenotype | bowed or bent legs, lumbar hyperlordosis, knock knee, Lower Limb Deformities, Gait Abnormalities |
ACMG Categories | pvs1, pm2, ppc |
ACMG Explanations | pvs1: This is a loss of function variant. pm2: chrX:22196389 ref:G alt:A was not found in gnomAD exomes or genomes. |
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-22196389-G-A |
GnomAD Alleles | - |
DBNSFP Alleles | X-22196389-G-A |
Other Alleles | - |
Note | nan |
Warnings | - |