European Birt-Hogg-Dube Consortium

LOVD - Variant listings for FLCN

About this overview [Show]

Patient data (#0000469)
Disease BHD
Phenotype_details -
Remarks diagnosed by Tommasetti - Forlì
Reference patient Tommassetti et al 2011, Italy:12100 Confreria-Cuneo
Inher. -
Cons. -
Geographic origin -
Ethnic origin Italian
Gender -
Age -
# Reported 1
Submitter Antonella Maffe

Variant data
Allele Unknown
Reported pathogenicity Probably pathogenic
Concluded pathogenicity Probably pathogenic
Exon 07
DNA change c.771delC   (View in UCSC Genome Browser, Ensembl)
RNA change -
Protein change p.Phe258LeufsX5
Type Frameshift
Variant remarks -
DB-ID FLCN_00134
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 07 c.771delC - p.Phe258LeufsX5 Frameshift - FLCN_00134 -

European Birt-Hogg-Dube Consortium