Full database search - The Folliculin Mutation Database

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Path.

Exon

DNA change

RNA change

Protein

Original Description

Type

DB-ID

Variant remarks

DNA published

Disease

Reference

Template

Technique

Remarks

# Reported

?/?

c.1340_1341ins7

p.Thr448HisfsX10

c.1795insCCACCCT

Insertion

FLCN_00041

Frameshift

Gunji et al., 2007. J Med Genet 44:588-593.

DNA

SEQ

1

Legend: [ FLCN full legend ]
Sequence variations are described basically as recommended by the Ad-Hoc Committee for Mutation Nomenclature (AHCMN), with the recently suggested additions (den Dunnen JT and Antonarakis SE [2000], Hum.Mut. 15:7-12); for a summary see Nomenclature. Coding DNA Reference Sequence, with the first base of the Met-codon counted as position 1.
Path.: Variant pathogenicity, in the format Reported/Concluded; '+' indicating the variant is pathogenic, '+?' probably pathogenic, '-' no known pathogenicity, '-?' probably no pathogenicity, '?' effect unknown. Exon: Exon numbering. DNA change: Variation at DNA-level. If present, "Full Details" will show you the the full-length entry. RNA change: Variation at RNA-level, (?) unknown but probably identical to DNA. Protein: Variation at protein level. Original Description: Original nomenclatures Type: Type of variant at DNA level. FLCN DB-ID: Database IDentifier; When available, links to OMIM ID's are provided. Variant remarks: Variant remarks DNA published: What the variant was reported as. Disease: Disease phenotype, as reported in paper/by submitter, unless modified by the curator. Reference: Reference describing the variation, "Submitted:" indicating that the mutation was submitted directly to this database. Template: Variant detected in DNA, RNA and/or Protein. Technique: Technique used to detect the variation. # Reported: Number of times this case has been reported

The Folliculin Mutation Database

folliculin (FLCN)