FOXL2 @ medgen.ugent.be/LOVD/

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/

Back

Sequence variant tables - Search sequence variants

Total results: 2.

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

(Micro)del incl. FOXL2

BPES

Submitted:Belgium;Gent

DNA

MLPA

FOXL2_00230

Total FOXL2 and ATR del of > 1.97 Mb

BPES in 6-m old male patient with microcephaly and micrognatia

Caucasoid/Europoid

(Micro)del incl. FOXL2

BPES

Submitted:Belgium;Gent

DNA

SEQ

FOXL2_00251

Total FOXL2 del; ATR normal

Familial, type I

4-generation BPES family. One female patient was reported to have a spontaneous pregnancy at the age of 29. She is said to have hyperandrogenism and hyperthecosis. This patient has an affected sister with apparent infertility.

Caucasoid/Europoid

Total results: 2. Showing results 1 to 2.

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.