Genomic variant #0000039462

Individual ID 00020479
Chromosome 3
Allele Paternal (inferred)
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.10183764A>C
Reference Qi et al (2013)
DB-ID VHL_000025
dbSNP ID rs5030804
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.233A>C r.(?) p.(Asn78Thr)
VHL NM_198156.2 +/+ - c.233A>C r.(?) p.(Asn78Thr)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000006549 DNA SEQ 1 VHL 1 Despoina Kalfakakou