Genomic variant #0000000957

Individual ID 00021037
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.17125768_17125769del
Reference -
DB-ID FLCN_000003 See all 5 reported entries
dbSNP ID -
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 0.0012
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
FLCN NM_144606.5 ?/? - c.779+46_779+47del r.(=) p.(=)
FLCN NM_144997.5 ?/? - c.779+46_779+47del r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000022 DNA SEQ-NG-I 1 - 7 Despoina Kalfakakou