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Variant ID | 849 |
---|---|
Genomic Coordinate (GRCh38) | g.22099070_22099072del |
Variant | c.998_1000del |
Variant Start Position | 998 |
Location | Exon 9 |
Amino Acid Change | p.Ile333del |
ACMG Call | - |
ACMG Call Last Revised Date | 4/28/2021 |
Predicted ACMG Call | Pathogenic | Effect Type | Deletion |
Variant Type | Small deletion |
PMID | 32329911, 34806794 |
Article Count | 2 |
Times Observed | < 3 |
Clinical Phenotype | - |
ACMG Categories | ps3, 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, ps3 |
No Contrary Evidence Found | TRUE |
ExAC Allele Frequency | - |
Thousand Genomes Allel Frequency | - |
Ontology Relations | 32329911: fx/abnormal cellular localization 32329911: fx/impaired secretion from the golgi complex 32329911: fx/reduced traffic from er to golgi 32329911: model/human cell line, not patient derived 32329911: method/ plasmid transfection 32329911: assay/immunofluorescence 32329911: assay/immunoblot 32329911: fx/loss of expression - protein |
hg19 Mapping Failed | FALSE |
Literature Alleles | - |
GnomAD Alleles | - |
DBNSFP Alleles | - |
Other Alleles | - |
Note | nan |
Warnings | - |