Genomic variant #0000006318

Individual ID 00021121
Chromosome 3
Allele Parent #2
Affects function (as reported) Probably does not affect function
Affects function (by curator) Probably does not affect function
DNA change (genomic) (Relative to hg19 / GRCh37) g.10188202C>T
Reference -
DB-ID VHL_000007 See all 2 reported entries
dbSNP ID  rs864622646
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 0.00034
Allele Count 2
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.345C>T r.(=) p.(=)
VHL NM_198156.2 -?/-? - c.341-3269C>T r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000174 DNA SEQ-NG-I 1 - 12 Despoina Kalfakakou