Genomic variant #0000021221

Individual ID 00017075
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.17124804C>T
Reference -
DB-ID FLCN_000012 See all 8 reported entries
dbSNP ID rs142934950
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 0.00138
Allele Count 8
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.918G>A r.(?) p.(Trp306*)
FLCN NM_144997.5 +/+ - c.871+47G>A r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000801 DNA SEQ-NG-I 1 - 11 Despoina Kalfakakou