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Variant ID | 982 |
---|---|
Genomic Coordinate (GRCh38) | g.22033056_22033057dup |
Variant | c.51_52dup |
Variant Start Position | 52 |
Location | Exon 1 |
Amino Acid Change | p.Gly18Glufs*15 |
ACMG Call | nan |
ACMG Call Last Revised Date | 2022-02-02 00:00:00 |
Predicted ACMG Call | Pathogenic | Effect Type | Frameshift |
Variant Type | Small insertion |
PMID | 32253725 |
Article Count | 1 |
Times Observed | <3 |
Clinical Phenotype | abnormal bone development, pectus carinatum, bowed or bent leg |
ACMG Categories | pvs1, pm2, pm6, ppc_het |
ACMG Explanations | pvs1: This is a loss of function variant. pm2: Allele frequencies are below 0.0005 in gnomAD. |
Variant in Clinvar | No |
ClinVar Classification | - |
Categories In Literature | pm6, ppc_het |
No Contrary Evidence Found | True |
ExAC Allele Frequency | 0 |
Thousand Genomes Allel Frequency | 0 |
Ontology Relations | - |
hg19 Mapping Failed | False |
Literature Alleles | X-22051171-C-CAG |
GnomAD Alleles | - |
DBNSFP Alleles | - |
Other Alleles | - |
Note | nan |
Warnings | - |