TITLE

Variants

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

Give us a moment while we fetch the data.