Genomic variant #0000041102

Individual ID 00020528
Chromosome 3
Allele Parent #2
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.(10188276_10191524)_(10191593_?)del
Reference Franke et al (2009)
DB-ID VHL_000037
dbSNP ID -
Variant remarks Deletion extending 3' of a transcript (breakpoints not sequenced). According to HGVS it is┬árecommended to describe it only using genomic coordinates.
HGVS description is probe-based.
Genetic origin Germline
Segregation -
Also Known As VHL exon 3 deletion
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.(?) r.(?) p.(?)
VHL NM_198156.2 +/+ - ?)c.(> r.(?) p.(?)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000006593 DNA SEQ 1 VHL 1 Despoina Kalfakakou