NFIA nuclear factor I A
Gene ID: 4774, updated on 5-Mar-2024Gene type: protein coding
Also known as: CTF; NF1-A; NFI-A; NFI-L; BRMUTD; NF-I/A; DEL1P32P31; C1DELp32p31
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- Go to complete Gene record for NFIA
- Go to Variation Viewer for NFIA variants
Summary
This gene encodes a member of the NF1 (nuclear factor 1) family of transcription factors. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide association study of seasonal pattern mania identifies NF1A as a possible susceptibility gene for bipolar disorder. GeneReviews: Not available | |
| A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function. GeneReviews: Not available | |
| Brain malformations with or without urinary tract defects | not available |
| Genetic loci associated with plasma phospholipid n-3 fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium. GeneReviews: Not available | |
| Genome- and phenome-wide analyses of cardiac conduction identifies markers of arrhythmia risk. GeneReviews: Not available | |
| Genome-wide association of bipolar disorder suggests an enrichment of replicable associations in regions near genes. GeneReviews: Not available | |
| Multiple common variants for celiac disease influencing immune gene expression. GeneReviews: Not available |
Copy number response
| Description |
|---|
| Copy number response Triplosensitivity No evidence available (Last evaluated 2017-01-12) ClinGen Genome Curation PageHaploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2017-01-12) ClinGen Genome Curation PagePubMed |
Genomic context
- Location:
- 1p31.3
- Sequence:
- Chromosome: 1; NC_000001.11 (61077227..61462788)
- Total number of exons:
- 13
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for NFIA variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- 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
- Variation ViewerRelated Variants
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