European Birt-Hogg-Dube Consortium

LOVD - Variant listings for FLCN

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Patient data (#0000012)
Disease BHD
Phenotype_details -
Remarks -
Reference patient van Steensel et al 2007, Leter et al 2008
Inher. -
Cons. -
Geographic origin -
Ethnic origin -
Gender -
Age -
# Reported 1

Variant data
Allele Unknown
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
Exon 06
DNA change c.420delC   (View in UCSC Genome Browser, Ensembl)
RNA change -
Protein change p.Ile141SerfsX36
Type Frameshift
Variant remarks Previously reported as c.875delC.
DB-ID FLCN_00012
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 06 c.420delC - p.Ile141SerfsX36 Frameshift Previously reported as c.875delC. FLCN_00012 -

European Birt-Hogg-Dube Consortium