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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: 5.
 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.804dupC           p.Gly269fs       BPES   De Baere et al. 2001   Genomic DNA   SEQ   FOXL2_00041       g.1041dupC   Familial, type 2   BPES in mother and 2 daughters.   Caucasoid/Europoid   GB       Insertion   Frameshift   Out of Frame Extension 
 01   c.804dupC           p.Gly269fs       BPES   De Baere et al. 2001   Genomic DNA   SEQ   FOXL2_00042       g.1041dupC   Familial, type unknown   3-generation BPES family of unknown type (Harrar et al. 1995)   Caucasoid/Europoid   GB       Insertion   Frameshift   Out of Frame Extension 
 01   c.804dupC           p.Gly269fs       BPES   Kosaki et al. 2002   Genomic DNA   SEQ   FOXL2_00043       g.1041dupC   Sporadic, type unknown   BPES in 12-year old sporadic female.   Mongoloid   JP       Insertion   Frameshift   Out of Frame Extension 
 01   c.804dupC           p.Gly269fs       BPES   De Baere et al. 2003   Genomic DNA   SEQ   FOXL2_00044       g.1041dupC   Familial, type 1   3-generation BPES type 1 family (POF in 3 affected sisters, ovum donation in one affected patient).       MX       Insertion   Frameshift   Out of Frame Extension 
 01   c.804dupC           p.Gly269fs       BPES   Crisponi et al. (2002)   Genomic DNA   SEQ   FOXL2_00045       g.1041dupC   Familial, type 1   Obesity   Unknown           Insertion   Frameshift   Out of Frame Extension 
Total results: 5. Showing results 1 to 5.


 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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