Genomic variant #0000039470

Individual ID 00020496
Chromosome 3
Allele Maternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.10188207G>A
Reference -
DB-ID VHL_000027 See all 9 reported entries
dbSNP ID rs1559428056
Variant remarks -
Genetic origin Germline
Segregation ?
Also Known As -
Is Greek Founder -
Geographic Origin (for founder variants) -
Average frequency (large NGS studies) Variant not found in online data sets
Average frequency in greek population 0.00017
Allele Count 1
Allele Number 5826
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
VHL NM_000551.3 +/+ - c.350G>A r.(?) p.(Trp117*)
VHL NM_198156.2 +/+ - c.341-3264G>A r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000006566 DNA SEQ 0 VHL 1 Despoina Kalfakakou