Variant #0000404737 (NC_000016.9:g.78466511del, WWOX(NM_016373.2):c.918del)

Individual ID 00180177
Chromosome 16
Allele Parent #2
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.78466511del
DNA change (hg38) g.78432614del
Published as 918delG
ISCN -
DB-ID WWOX_000003 See all 2 reported entries
Variant remarks -
Reference PubMed: TumienÄ— 2018
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
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
WWOX NM_016373.2 +?/. 5 c.918del r.(?) p.(Glu306Aspfs*21)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000181080 DNA SEQ-NG - WES WWOX 2 Johan den Dunnen