Genomic variant #0000039766

Individual ID 00020930
Chromosome 17
Allele Parent #2
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.17127383_17127385del
Reference -
DB-ID FLCN_000059
dbSNP ID rs786203218
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 5778
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
FLCN NM_144606.5 +/+ - c.469_471del r.(?) p.(Phe157del)
FLCN NM_144997.5 +/+ - c.469_471del r.(?) p.(Phe157del)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000006821 DNA SEQ 1 FLCN 1 Despoina Kalfakakou