Genomic variant #0000039447

Individual ID 00020929
Chromosome 3
Allele Parent #2
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.10191582C>G
Reference -
DB-ID VHL_000020 See all 3 reported entries
dbSNP ID rs902694906
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.575C>G r.(?) p.(Pro192Arg)
VHL NM_198156.2 ?/? - c.452C>G r.(?) p.(Pro151Arg)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000006820 DNA SEQ 0 VHL 1 Despoina Kalfakakou