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Variant ID | 517 |
---|---|
Genomic Coordinate (GRCh38) | g.22212904_22212905del |
Variant | c.1646_?del |
Variant Start Position | 1646 |
Location | Exon 16 |
Amino Acid Change | p.Arg549_?del |
ACMG Call | - |
ACMG Call Last Revised Date | 4/28/2021 |
Predicted ACMG Call | Uncertain Significance | Effect Type | Deletion |
Variant Type | Small deletion |
PMID | 30607568, 33639975, 34806794 |
Article Count | 3 |
Times Observed | 3-5 |
Clinical Phenotype | radiological signs of rickets, abnormal bone development |
ACMG Categories | pm2, pm4, ppc |
ACMG Explanations | pm2: No deletion variants were found in gnomAD exomes or genomes at this position. pm4: This variant causes an in-frame length change and is not in a repeat region. |
Variant in Clinvar | No |
ClinVar Classification | - |
Categories In Literature | ppc |
No Contrary Evidence Found | Yes |
ExAC Allele Frequency | - |
Thousand Genomes Allel Frequency | - |
Ontology Relations | - |
hg19 Mapping Failed | No |
Literature Alleles | - |
GnomAD Alleles | - |
DBNSFP Alleles | - |
Other Alleles | - |
Note | nan |
Warnings | - |