Variant ID | 112 |
---|---|
Genomic Coordinate (GRCh38) | g.22047194_22047196del |
Variant | c.332_334del |
Variant Start Position | 332 |
Location | Exon 3 |
Amino Acid Change | p.Val111del |
ACMG Call | Likely Pathogenic |
ACMG Call Last Revised Date | 2022-02-02 00:00:00 |
Predicted ACMG Call | – |
Effect Type | Deletion |
Variant Type | Small deletion |
PMID | 34806794 |
Article Count | 1 |
Times Observed | < 3 |
Clinical Phenotype | – |
ACMG Categories | – |
ACMG Explanations | – |
Variant in Clinvar | Yes |
ClinVar Classification | Likely 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 | nan |
Warnings | – |