Sponsored by Ultragenyx Pharmaceutical Inc.
Variant ID | 20 |
---|---|
Genomic Coordinate (GRCh38) | g.22033020_22033021del |
Variant | c.15_16del |
Variant Start Position | 15 |
Location | Exon 1 |
Amino Acid Change | p.Gly6Glufs*44 |
ACMG Call | Pathogenic |
ACMG Call Last Revised Date | 4/28/2021 |
Predicted ACMG Call | Pathogenic | Effect Type | Frameshift |
Variant Type | Small deletion |
PMID | 22577109, 34806794 |
Article Count | 2 |
Times Observed | 3-5 |
Clinical Phenotype | Gait abnormalities, Lower limb deformities, Reduced Serum Phosphate |
ACMG Categories | pvs1, pm2, ppc |
ACMG Explanations | pvs1: This is a loss of function variant. pm2: chrX:22051138 ref:AGG alt:A was not found in gnomAD exomes or genomes. chrX:22051137 ref:CAG alt:C 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-22051138-AGG-A X-22051137-CAG-C |
GnomAD Alleles | - |
DBNSFP Alleles | - |
Other Alleles | - |
Note | nan |
Warnings | - |