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When using or discussing LOVD please refer to:
Fokkema IFAC, Den Dunnen JT and Taschner PEM (2005). LOVD: easy creation of a locus-specific sequence variation database using an "LSDB-in-a-Box" approach.
Hum Mutat. 2005 Aug;26(2):63-8.
FOXL2 @ medgen.ugent.be/LOVD/
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Sequence variant tables - Search sequence variants
Total results: 6.
 Exon 
  DNA: Allele 1 
  RE-Site 
  RNA 
  Protein 
  Frequency 
  Disease 
  Reference 
  DNA/RNA 
  Technique 
  FOXL2db-ID 
  Remarks 
  DNA allele 1 (Crisponi et al. 2001) 
  Phenotype 
  Clinical data 
  Ethnic origin 
  Geographic origin 
  Domain 
  RNA Sequence Change 
  RNA Frame Change 
  Protein Sequence Outcome 
 01   c.672_701dup           p.Ala224_Ala234dup       BPES   Submitted:Belgium;Gent   DNA   SEQ   FOXL2_00233       g.909_938dup   Familial, type II   3-generation BPES family. No fertility problems have been reported.    Caucasoid/Europoid   BE   Polyala   Insertion   Inframe   Internal insertion 
 01   c.672_701dup           p.Ala224_Ala234dup       BPES   Submitted:Belgium;Gent   DNA   SEQ   FOXL2_00236       g.909_938dup   Familial, type II   BPES in 10-y old female patient, and at least seven affected family members, including her brother and father. No infertility problems have been reported.   Caucasoid/Europoid   NO   Polyala   Insertion   Inframe   Internal Insertion 
 01   c.672_701dup           p.Ala224_Ala234dup       BPES   Submitted:Belgium;Gent   DNA   SEQ   FOXL2_00231       g.909_938dup   Sporadic, type unknown   BPES in 3-y old sporadic female patient   Caucasoid/Europoid   BE   Polyala   Insertion   Inframe   Internal Insertion 
 01   c.672_701dup           p.Ala224_Ala234dup       BPES   Submitted:Belgium;Gent   DNA   SEQ   FOXL2_00247       g.909_938dup   Sporadic, type unknown   BPES in 11-y old sporadic female patient   Caucasoid/Europoid   BE   PolyAla   Insertion   Inframe   Internal Insertion 
 01   c.672_701dup           p.Ala224_Ala234dup       BPES   Submitted:Belgium;Gent   DNA   SEQ   FOXL2_00255       g.909_938dup   Sporadic, type unknown   A child with sporadic BPES   Caucasoid/Europoid   PT   Polyala   Insertion   Inframe   Internal insertion 
 01   c.672_701dup           p.Ala224_Ala234dup       BPES   Submitted:Belgium;Gent   DNA   SEQ   FOXL2_00250       g.909_938dup   Familial, type unknown   BPES in 10-y old male patient and his father.   Caucasoid/Europoid   SA   Polyala   Insertion   Inframe   Internal insertion 
Total results: 6. Showing results 1 to 6.


 Legend: [ full legend ]
Sequence variations are described basically as recommended by the Ad-Hoc Committe 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. Genomic Reference Sequence.
Exon: exon numbering. DNA allele 1: variation at DNA-level (allele 1). If present, "Full Details" will show you the the full-length entry. "Show all records" will show you similar entries. RE-site: variation creates (+) or destroys (-) restriction enzyme recognition sequence. RNA: variation at RNA-level (allele 1), (?) unknown but probably identical to DNA. Frequency: frequency of polymorphism. Protein: variation at protein level. Disease: disease phenotype, as reported in paper/by submitter, unless modified by the curator (if so, see Remarks column). Reference: publication describing the variation, "Submitted:" indicating that the mutation was submitted directly to this database. DNA/RNA: variation detected in RNA or DNA. Technique: technique used to detect the variation. For a full list of techniques, see the full legend. FOXL2db-ID: FOXL2 database IDentifier; if present, links to OMIM ID's are provided. Remarks: Listings in bold italics indicate compound heterozygous patients with both mutated alleles known. Consequently, the case is mentioned twice in this table.

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