Sponsored by Ultragenyx Pharmaceutical Inc.
Variant ID | 1001 |
---|---|
Genomic Coordinate (GRCh38) | g.22047178del |
Variant | c.316del |
Variant Start Position | 316 |
Location | Exon 3 |
Amino Acid Change | p.Trp106Glyfs*2 |
ACMG Call | Pathogenic |
ACMG Call Last Revised Date | 2022-02-02 00:00:00 |
Predicted ACMG Call | nan | Effect Type | Frameshift |
Variant Type | Small deletion |
PMID | - |
Article Count | 0 |
Times Observed | <3 |
Clinical Phenotype | Gait abnormalities, Bone and/or joint pain and/or joint stiffness, Lower limb deformities, Short Stature |
ACMG Categories | - |
ACMG Explanations | - |
Variant in Clinvar | nan |
ClinVar Classification | nan |
Categories In Literature | nan |
No Contrary Evidence Found | nan |
ExAC Allele Frequency | - |
Thousand Genomes Allel Frequency | - |
Ontology Relations | - |
hg19 Mapping Failed | nan |
Literature Alleles | - |
GnomAD Alleles | - |
DBNSFP Alleles | - |
Other Alleles | - |
Note | nan |
Warnings | - |