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Variant ID | 440 |
---|---|
Genomic Coordinate (GRCh38) | g.22168313_22190503del |
Variant | c.1405-?_1645+?del |
Variant Start Position | 1405 |
Location | Exon 13 - 15 |
Amino Acid Change | Deletion (Exons 13-15) |
ACMG Call | - |
ACMG Call Last Revised Date | 4/28/2021 |
Predicted ACMG Call | Likely Pathogenic | Effect Type | Deletion |
Variant Type | CNV |
PMID | 24926462, 23079138, 21902834, 34806794 |
Article Count | 4 |
Times Observed | < 3 |
Clinical Phenotype | - |
ACMG Categories | pvs1 |
ACMG Explanations | pvs1: This is a loss of function variant. |
Variant in Clinvar | No |
ClinVar Classification | - |
Categories In Literature | - |
No Contrary Evidence Found | Yes |
ExAC Allele Frequency | - |
Thousand Genomes Allel Frequency | - |
Ontology Relations | - |
hg19 Mapping Failed | Yes |
Literature Alleles | - |
GnomAD Alleles | - |
DBNSFP Alleles | - |
Other Alleles | - |
Note | nan |
Warnings | - |