Variant #0000763178 (NC_000016.9:g.78458766G>A, WWOX(NM_016373.2):c.606-1G>A)

Individual ID 00361576
Chromosome 16
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.78458766G>A
DNA change (hg38) g.78424869G>A
Published as -
ISCN -
DB-ID WWOX_000039 See all 2 reported entries
Variant remarks ACMG PVS1, PM2, PP1
Reference PubMed: Anazi 2017
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0 View details
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
WWOX NM_016373.2 +/. - c.606-1G>A r.spl p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000362804 DNA SEQ-NG - WES WWOX 1 Johan den Dunnen