Variant #0000472549 (NC_000016.9:g.79245687C>T, WWOX(NM_016373.2):c.1239C>T)

Individual ID 00229779
Chromosome 16
Allele Parent #1
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.79245687C>T
DNA change (hg38) g.79211790C>T
Published as -
ISCN -
DB-ID WWOX_000041 See all 2 reported entries
Variant remarks -
Reference PubMed: van Rootselaar 2017
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation no
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00678 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 -?/. - c.1239C>T r.(?) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000230872 DNA SEQ;SEQ-NG - WES CTNND2 5 Johan den Dunnen