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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: 3.
 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   Microscopic del incl. FOXL2                   BPES   Beysen et al. 2005, Cha et al. 2003   DNA   MLPA, microsatellite analysis   FOXL2_00198   Total FOXL2 and ATR del of > 6.1 Mb       Sporadic, type unknown   BPES in 6-year old male with psychomotor retardation and VSD    Mongoloid   KR                 
 01   Microscopic del incl. FOXL2                   BPES   Beysen et al. 2005   DNA   MLPA, microsatellite analysis   FOXL2_00199   Total FOXL2 deletion; partial ATR deletion (1 probe); extent of the deletion > 3.5 Mb       Sporadic, type unknown   3-y-old female with normal psychomotor development and no intra-uterine and postnatal growth retardation, ultrasound of uterus and ovaries was normal at age 13 mo    Caucasoid/Europoid   CA                 
 01   Microscopic del incl. FOXL2                   BPES   Beysen et al. 2005   Genomic DNA   MLPA, microsatellite analysis   FOXL2_00205   Total FOXL2 deletion; ATR normal; extent of the deletion: max 3.6 Mb       Sporadic, type unknown   4-year old female with postnatal growth retardation and microcephaly   Caucasoid/Europoid   GB                 
Total results: 3. Showing results 1 to 3.


 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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