Genomic variant #0000017299

Individual ID 00016782
Chromosome 17
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.17122436C>T
Reference -
DB-ID FLCN_000021 See all 5 reported entries
dbSNP ID  rs143483053
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 0.00087
Allele Count 5
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.*2257G>A r.(=) p.(=)
FLCN NM_144997.5 -?/-? - c.959G>A r.(?) p.(Arg320Gln)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000477 DNA SEQ-NG-I 1 - 7 Despoina Kalfakakou