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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: 22.
 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.843_859dup           p.Pro287fs       BPES   De Baere et al. 2003   Genomic DNA   SEQ   FOXL2_00023       g.1080_1096dup   Sporadic, type unknown   BPES in 8-year old sporadic male, de novo   Caucasoid/Europoid   BE       Insertion   Frameshift   Premature Termination 
 01   c.843_859dup           p.Pro287fs       BPES   De Baere et al. 2003   Genomic DNA   SEQ   FOXL2_00024       g.1080_1096dup   Familial, type 2   Affected mother transmits BPES to son (stenosis of lacrimal ducts and intestinal malrotation)   Caucasoid/Europoid   BE       Insertion   Frameshift   Premature Termination 
 01   c.843_859dup           p.Pro287fs       BPES   De Baere et al. 2003   Genomic DNA   SEQ   FOXL2_00025       g.1080_1096dup   Sporadic, type unknown   BPES in 5-y old sporadic female   Caucasoid/Europoid   BE       Insertion   Frameshift   Premature Termination 
 01   c.843_859dup           p.Pro287fs       BPES   De Baere et al. 2003   Genomic DNA   SEQ   FOXL2_00026       g.1080_1096dup   Sporadic, type unknown   BPES in 1-y old sporadic female, de novo   Caucasoid/Europoid   NO       Insertion   Frameshift   Premature Termination 
 01   c.843_859dup           p.Pro287fs       BPES   De Baere et al. 2003   Genomic DNA   SEQ   FOXL2_00027       g.1080_1096dup   Familial, type unknown   2-generation BPES pedigree, type unknown   Caucasoid/Europoid   GB       Insertion   Frameshift   Premature Termination 
 01   c.843_859dup           p.Pro287fs       BPES   De Baere et al. 2003   Genomic DNA   SEQ   FOXL2_00028       g.1080_1096dup   Familial, type unknown   BPES in family of unknown type (male-to-male transmission)   Caucasoid/Europoid   AU       Insertion   Frameshift   Premature Termination 
 01   c.843_859dup           p.Pro287fs       BPES   De Baere et al. 2003   Genomic DNA   SEQ   FOXL2_00029       g.1080_1096dup   Familial, type unknown   2-generation BPES pedigree, type unknown.   Caucasoid/Europoid   DE       Insertion   Frameshift   Premature Termination 
 01   c.843_859dup           p.Pro287fs       BPES   Crisponi et al. (2002)   Genomic DNA   SEQ   FOXL2_00030       g.1080_1096dup   Familial, type 1       Unknown           Insertion   Frameshift   Premature Termination 
 01   c.843_859dup           p.Pro287fs       BPES   Crisponi et al. (2002)   Genomic DNA   SEQ   FOXL2_00031       g.1080_1096dup   Sporadic, type unknown       Unknown           Insertion   Frameshift   Premature Termination 
 01   c.843_859dup           p.Pro287fs       BPES   De Baere et al. (unpublished)   Genomic DNA   SEQ   FOXL2_00106       g.1080_1096dup   Sporadic, type unknown   BPES in 4-y old sporadic female   Caucasoid/Europoid   TR       Insertion   Frameshift   Premature Termination 
 01   c.843_859dup           p.Pro287fs       BPES   De Baere et al. (unpublished)   Genomic DNA   SEQ   FOXL2_00107       g.1080_1096dup   Sporadic, type unknown   BPES in 20-y old sporadic female with oligomenorrhea. Small uterus   Caucasoid/Europoid   US       Insertion   Frameshift   Premature Termination 
 01   c.843_859dup           p.Pro287fs       BPES   De Baere et al. (unpublished)   Genomic DNA   SEQ   FOXL2_00108       g.1080_1096dup   Sporadic, type unknown   BPES in 2-y old sporadic male   Caucasoid/Europoid   DE       Insertion   Unchanged   Premature Termination 
 01   c.843_859dup           p.Pro287fs       BPES   Cha et al. 2003   Genomic DNA   SEQ   FOXL2_00149       g.1080_1096dup   Sporadic, type unknown   BPES in 3-y old sporadic male   Mongoloid   KR       Insertion   Frameshift   Premature Termination 
 01   c.843_859dup           p.Pro287fs       BPES   De Baere et al. (unpublished)   Genomic DNA   SEQ   FOXL2_00150       g.1080_1096dup   Unknown       Caucasoid/Europoid   FR       Insertion   Frameshift   Premature Termination 
 01   c.843_859dup           p.Pro287fs       BPES   De Baere et al. (unpublished)   Genomic DNA   SEQ   FOXL2_00151       g.1080_1096dup   Sporadic, type unknown   BPES in 4-y old sporadic male   Caucasoid/Europoid   LK       Insertion   Frameshift   Premature Termination 
 01   c.843_859dup           p.Pro287fs       BPES   De Baere et al. (unpublished)   Genomic DNA   SEQ   FOXL2_00152       g.1080_1096dup   Sporadic, type unknown   BPES in 1,5-y old sporadic male   Caucasoid/Europoid   FI       Insertion   Frameshift   Premature Termination 
 01   c.843_859dup           p.Pro287fs       BPES   De Baere et al. (unpublished)   Genomic DNA   SEQ   FOXL2_00153       g.1080_1096dup   Unknown   BPES in 34-y old male   Caucasoid/Europoid   NL       Insertion   Frameshift   Premature Termination 
 01   c.843_859dup           p.Pro287fs       BPES   De Baere et al. (unpublished)   Genomic DNA   SEQ   FOXL2_00175       g.1080_1096dup   Sporadic, type unknown   BPES in 3-y old sporadic female patient   Caucasoid/Europoid   BE       Insertion   Frameshift   Premature termination 
 01   c.843_859dup           p.Pro287fs       BPES   De Baere et al. (unpublished)   Genomic DNA   SEQ   FOXL2_00186       g.1080_1096dup   Sporadic, type unknown   BPES in 1-year old sporadic female patient   Caucasoid/Europoid   BE       Insertion   Frameshift   Premature termination 
 01   c.843_859dup           p.Pro287fs       BPES   Submitted:Belgium;Gent   DNA   SEQ   FOXL2_00188       g.1080_1096dup   familial, type unknown   4-generation BPES type II family   Caucasoid/Europoid   US       Insertion   Frameshift   Premature Termination 
 01   c.843_859dup           p.Pro287fs       BPES   De Baere et al. (unpublished)   DNA   SEQ   FOXL2_00257       g.1080_1096dup   Sporadic   BPES in 12-y old female sporadic patient    Caucasoid/Europoid   US       Insertion   Frameshift   Premature Termination 
 01   c.843_859dup           p.Pro287fs       BPES   Submitted:Belgium;Gent   DNA   SEQ   FOXL2_00268           Sporadic, type unknown   Female patient                         
Total results: 22. Showing results 1 to 22.


 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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