Variant #0000320038 (NC_000016.9:g.78466409G>T, WWOX(NM_016373.2):c.816G>T)

Chromosome 16
Allele Unknown
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.78466409G>T
DNA change (hg38) g.78432512G>T
Published as WWOX(NM_016373.3):c.816G>T (p.L272F), WWOX(NM_016373.4):c.816G>T (p.L272F)
ISCN -
DB-ID WWOX_000028 See all 2 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00252 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
WWOX NM_016373.2 -?/. - c.816G>T r.(?) p.(Leu272Phe)