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Variant ID | 392 |
---|---|
Genomic Coordinate (GRCh38) | g.22133523_22133624del |
Variant | c.1303-?_1404+?del |
Variant Start Position | 1303 |
Location | Intron 11 |
Amino Acid Change | Deletion (Exon 12) |
ACMG Call | Pathogenic |
ACMG Call Last Revised Date | 4/28/2021 |
Predicted ACMG Call | Uncertain Significance | Effect Type | Deletion |
Variant Type | CNV |
PMID | 16636593, 32329911, 9199930, 32253725, 33666701, 34141703, 34806794 |
Article Count | 7 |
Times Observed | 6-10 |
Clinical Phenotype | Fractures/Pseudo-Fractures, Gait Abnormalities, Lower Limb Deformities, Lower limb deformities, abnormal bone development, pectus carinatum, bowed or bent leg, short stature |
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 | - |