Genomic variant #0000006047

Individual ID 00016443
Chromosome 17
Allele Parent #2
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.17125765C>A
Reference -
DB-ID FLCN_000007 See all 50 reported entries
dbSNP ID rs112496006
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 0.00865
Allele Count 50
Allele Number 5778
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
FLCN NM_144606.5 ?/? - c.779+50G>T r.(=) p.(=)
FLCN NM_144997.5 ?/? - c.779+50G>T r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000167 DNA SEQ-NG-I 1 - 14 Despoina Kalfakakou