European Birt-Hogg-Dube Consortium

LOVD - Variant listings for FLCN

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Patient data (#0000072)
Disease -
Phenotype_details -
Remarks -
Reference patient dbSNP-rs41525346 {RS:rs41525346} Cho et al 2008
Inher. -
Cons. -
Geographic origin -
Ethnic origin -
Gender -
Age -
# Reported 1

Variant data
Allele Unknown
Reported pathogenicity No known pathogenicity
Concluded pathogenicity No known pathogenicity
Exon 05i
DNA change c.396+59T>C   (View in UCSC Genome Browser, Ensembl)
RNA change -
Protein change -
Type SNP
Variant remarks IVS5+59T>C. rs41525346. Previously reported as c.396+59A>G
DB-ID FLCN_00070
Frequency -

1 entry in FLCN

Path.
Allele Descending
Ascending
Exon Descending
Ascending
DNA change Descending
Ascending
RNA change Descending
Ascending
Protein change Descending
Ascending
Type Descending
Ascending
Variant remarks Descending
Ascending
DB-ID Descending
Ascending
Frequency Descending
Ascending
-/- Unknown 05i c.396+59T>C - - SNP IVS5+59T>C. rs41525346. Previously reported as c.396+59A>G FLCN_00070 -

European Birt-Hogg-Dube Consortium