FRG1 FSHD region gene 1
Gene ID: 2483, updated on 5-Mar-2024Gene type: protein coding
Also known as: FSG1; FRG1A
- See all available tests in GTR for this gene
- Go to complete Gene record for FRG1
- Go to Variation Viewer for FRG1 variants
Summary
This gene maps to a location 100 kb centromeric of the repeat units on chromosome 4q35 which are deleted in facioscapulohumeral muscular dystrophy (FSHD). It is evolutionarily conserved and has related sequences on multiple human chromosomes but DNA sequence analysis did not reveal any homology to known genes. In vivo studies demonstrate the encoded protein is localized to the nucleolus. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
Description | Tests |
---|---|
Facioscapulohumeral muscular dystrophy 1 | See labs |
Genome-wide association study of chronic periodontitis in a general German population. GeneReviews: Not available |
Genomic context
- Location:
- 4q35.2
- Sequence:
- Chromosome: 4; NC_000004.12 (189940872..189963192)
- Total number of exons:
- 9
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | GeneView ReportGo to Variation Viewer for FRG1 variants |
1000 Genomes | See 1000 Genomes Browser (GRCh37.p13) |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- SNP: GeneViewSNPs linked from GeneView
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