European Birt-Hogg-Dube Consortium

LOVD - Variant listings for FLCN

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Patient data (#0000288)
Disease BHD
Phenotype_details -
Remarks -
Reference patient Kunogi et al 2010
Inher. -
Cons. -
Geographic origin -
Ethnic origin Japanese
Gender -
Age -
# Reported 1

Variant data
Allele Unknown
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
Exon 07
DNA change c.769_771delTCC   (View in UCSC Genome Browser, Ensembl)
RNA change -
Protein change p.Ser257del
Type Deletion
Variant remarks -
DB-ID FLCN_00125
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.769_771delTCC - p.Ser257del Deletion - FLCN_00125 -

European Birt-Hogg-Dube Consortium