Genomic variant #0000040128

Individual ID 00021994
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.17119838C>T
Reference -
DB-ID FLCN_000011 See all 8 reported entries
dbSNP ID rs150687840
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 0.00121
Allele Count 7
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.*4855G>A r.(=) p.(=)
FLCN NM_144997.5 -?/-? - c.1177-21G>A r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000007007 DNA SEQ-NG - - 10 Despoina Kalfakakou