European Birt-Hogg-Dube Consortium

LOVD - Variant listings for FLCN

About this overview [Show]

Patient data (#0000053)
Disease BHD
Phenotype_details -
Remarks -
Reference patient Schmidt et al 2005, Gad et al 2007, Toro et al 2008
Inher. -
Cons. -
Geographic origin -
Ethnic origin -
Gender -
Age -
# Reported 1

Variant data
Allele Unknown
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
Exon 09i
DNA change c.1062+2T>G   (View in UCSC Genome Browser, Ensembl)
RNA change -
Protein change -
Type Splicesite
Variant remarks Intron 9 affecting splice site. Previously reported as IVS9+2 T>G.
DB-ID FLCN_00053
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 09i c.1062+2T>G - - Splicesite Intron 9 affecting splice site. Previously reported as IVS9+2 T>G. FLCN_00053 -

European Birt-Hogg-Dube Consortium