European Birt-Hogg-Dube Consortium

LOVD - Variant listings for FLCN

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Patient data (#0000004)
Disease BHD
Phenotype_details -
Remarks -
Reference patient 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 04
DNA change c.147delA   (View in UCSC Genome Browser, Ensembl)
RNA change -
Protein change p.Gly50ValfsX5
Type Frameshift
Variant remarks Previously reported as c.602delA
DB-ID FLCN_00004
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 04 c.147delA - p.Gly50ValfsX5 Frameshift Previously reported as c.602delA FLCN_00004 -

European Birt-Hogg-Dube Consortium