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Variant ID | 708 |
---|---|
Genomic Coordinate (GRCh38) | g.22227601_22227604dup |
Variant | c.2060_2063dup |
Variant Start Position | 2063 |
Location | Exon 20 |
Amino Acid Change | p.Tyr688* |
ACMG Call | Pathogenic |
ACMG Call Last Revised Date | 4/28/2021 |
Predicted ACMG Call | Conflict | Effect Type | Nonsense |
Variant Type | Small insertion |
PMID | 19219621, 33666701, 34806794 |
Article Count | 3 |
Times Observed | 6-10 |
Clinical Phenotype | - |
ACMG Categories | - |
ACMG Explanations | - |
Variant in Clinvar | Yes |
ClinVar Classification | Pathogenic |
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 | PMID 19219621 reports this as c.2063_2064insGTTA instead of c.2060_2063dupGTTA. It is the same variant. This patient count includes variant c.2060_2063 from Genomenon's patient database V3 |
Warnings | - |