Sponsored by Ultragenyx Pharmaceutical Inc.
Variant ID | 6 |
---|---|
Genomic Coordinate (GRCh38) | g.22032445_22038538del |
Variant | c.-562-?_187+?del |
Variant Start Position | -562 |
Location | 5' UTR |
Amino Acid Change | Deletion (Exons 1-2) |
ACMG Call | Pathogenic |
ACMG Call Last Revised Date | 4/28/2021 |
Predicted ACMG Call | - | Effect Type | Deletion |
Variant Type | CNV |
PMID | 34141703, 34806794 |
Article Count | 2 |
Times Observed | 6-10 |
Clinical Phenotype | Fractures/Pseudo-Fractures, Gait Abnormalities, Lower Limb Deformities, Tooth Abscesses and/or Excessive Dental Caries |
ACMG Categories | - |
ACMG Explanations | - |
Variant in Clinvar | No |
ClinVar Classification | - |
Categories In Literature | - |
No Contrary Evidence Found | No |
ExAC Allele Frequency | - |
Thousand Genomes Allel Frequency | - |
Ontology Relations | - |
hg19 Mapping Failed | No |
Literature Alleles | - |
GnomAD Alleles | - |
DBNSFP Alleles | - |
Other Alleles | - |
Note | nan |
Warnings | - |