Variant #0000787081 (NC_000016.9:g.78458896dup, WWOX(NM_016373.2):c.735dup)

Individual ID 00374536
Chromosome 16
Allele Both (homozygous)
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.78458896dup
DNA change (hg38) g.78424999dup
Published as c.735dupT
ISCN -
DB-ID WWOX_000059
Variant remarks -
Reference PubMed: Ganapathy 2019
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
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 +?/. 7 c.735dup r.(?) p.(Val246CysfsTer24)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000375730 DNA SEQ-NG - TruSight One panel WWOX 1 Johan den Dunnen