Variant #0000188389 (NC_000016.9:g.78466583C>G, WWOX(NM_016373.2):c.990C>G)

Individual ID 00117076
Chromosome 16
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.78466583C>G
DNA change (hg38) g.78432686C>G
Published as -
ISCN -
DB-ID WWOX_000008
Variant remarks -
Reference PubMed: Bobbili 2018, Journal: Bobbili 2018
ClinVar ID -
dbSNP ID rs117209694
Origin Germline
Segregation -
Frequency 1/194 cases RE
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00016 View details
Owner Dheeraj Bobbili
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.990C>G r.(?) p.(Asn330Lys)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000117549 DNA SEQ-NG - - - 1 Dheeraj Bobbili