Genomic variant #0000041104

Individual ID 00020560
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.(?_17117107)_(17117107_17118313)del
Reference -
DB-ID FLCN_000061 See all 6 reported entries
dbSNP ID -
Variant remarks Deletion extending 5' 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 FLCN exon 14 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 0.00069
Allele Count 4
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 +/+ 14 c.(?) r.(?) p.(?)
FLCN NM_144997.5 +/+ - c.(?) r.(?) p.(?)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000006619 DNA SEQ 1 FLCN 1 Despoina Kalfakakou