Variant #0000174557 (NC_000017.10:g.(17136216_17140225)_(17140502del_?)del, FLCN(NM_144997.5):c.(?_-504)_(-228+1_-227-1)del)

Individual ID 00108130
Chromosome 17
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.(17136216_17140225)_(17140502del_?)del
DNA change (hg38) -
Published as -
ISCN -
DB-ID FLCN_000181 See all 3 reported entries
Variant remarks -
Reference PubMed: Benhammou 2011
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Genomic location of variant could not be determined
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
FLCN NM_144997.5 +/+ _1_1i c.(?_-504)_(-228+1_-227-1)del r.(?) p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000108598 DNA MLPA - - FLCN 1 Johan den Dunnen