NFIA Chromosome 1
Nuclear factor I A
Upload your DNA to see your personal genotypes for variants in NFIA.
What This Gene Does
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]
Gene Info
Gene Group
Nuclear factor I family
Locus Type
gene with protein product
Location
1p31.3
Ensembl
ENSG00000162599
Associated Conditions (7)
NFIA-related disorder
Inborn genetic diseases
Brain malformations with or without urinary tract defects
Macrocephaly
Cleft palate
Chromosome 1p32-p31 deletion syndrome
Neurodevelopmental disorder
Key Variants
RS1553148514
Conflicting classifications of pathogenicity
NFIA-related disorder, Inborn genetic diseases, NFIA-related disorder
Health Risk
RS1553149167
Conflicting classifications of pathogenicity
Inborn genetic diseases, Brain malformations with or without urinary tract defects, Inborn genetic diseases
Health Risk
RS201450663
Conflicting classifications of pathogenicity
Health Risk
RS2474380
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2524200686
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS374849949
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS533067936
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS760170429
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS886039429
Conflicting classifications of pathogenicity
Brain malformations with or without urinary tract defects, Inborn genetic diseases, Brain malformations with or without urinary tract defects
Health Risk
RS1057518992
Likely pathogenic
Macrocephaly, Cleft palate, Macrocephaly
Health Risk
RS1064796492
Likely pathogenic
Health Risk
RS1255356768
Likely pathogenic
Brain malformations with or without urinary tract defects, Brain malformations with or without urinary tract defects
Health Risk
All Variants (56)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1553148514 | Health Risk | Conflicting classifications of pathogenicity | NFIA-related disorder, Inborn genetic diseases, NFIA-related disorder |
| RS1553149167 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Brain malformations with or without urinary tract defects, Inborn genetic diseases |
| RS201450663 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2474380 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS2524200686 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS374849949 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS533067936 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS760170429 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS886039429 | Health Risk | Conflicting classifications of pathogenicity | Brain malformations with or without urinary tract defects, Inborn genetic diseases, Brain malformations with or without urinary tract defects |
| RS1057518992 | Health Risk | Likely pathogenic | Macrocephaly, Cleft palate, Macrocephaly |
| RS1064796492 | Health Risk | Likely pathogenic | — |
| RS1255356768 | Health Risk | Likely pathogenic | Brain malformations with or without urinary tract defects, Brain malformations with or without urinary tract defects |
| RS1553149202 | Health Risk | Likely pathogenic | Chromosome 1p32-p31 deletion syndrome, Chromosome 1p32-p31 deletion syndrome |
| RS1570122721 | Health Risk | Likely pathogenic | — |
| RS1570123287 | Health Risk | Likely pathogenic | Chromosome 1p32-p31 deletion syndrome, Chromosome 1p32-p31 deletion syndrome |
| RS1570497904 | Health Risk | Likely pathogenic | — |
| RS1646255018 | Health Risk | Likely pathogenic | — |
| RS1665711818 | Health Risk | Likely pathogenic | Chromosome 1p32-p31 deletion syndrome, Chromosome 1p32-p31 deletion syndrome |
| RS2100414085 | Health Risk | Likely pathogenic | Chromosome 1p32-p31 deletion syndrome, Chromosome 1p32-p31 deletion syndrome |
| RS2100414172 | Health Risk | Likely pathogenic | Chromosome 1p32-p31 deletion syndrome, Chromosome 1p32-p31 deletion syndrome |
| RS2100414767 | Health Risk | Likely pathogenic | Chromosome 1p32-p31 deletion syndrome, Chromosome 1p32-p31 deletion syndrome |
| RS2100485780 | Health Risk | Likely pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS2100520890 | Health Risk | Likely pathogenic | Chromosome 1p32-p31 deletion syndrome, Brain malformations with or without urinary tract defects, Chromosome 1p32-p31 deletion syndrome |
| RS2524200871 | Health Risk | Likely pathogenic | Brain malformations with or without urinary tract defects, Brain malformations with or without urinary tract defects |
| RS2524201051 | Health Risk | Likely pathogenic | — |
| RS2525031517 | Health Risk | Likely pathogenic | Brain malformations with or without urinary tract defects, Brain malformations with or without urinary tract defects |
| RS2525136947 | Health Risk | Likely pathogenic | — |
| RS1060505054 | Health Risk | Pathogenic | Brain malformations with or without urinary tract defects, Brain malformations with or without urinary tract defects |
| RS1553149182 | Health Risk | Pathogenic | NFIA-related disorder, Brain malformations with or without urinary tract defects, NFIA-related disorder |
| RS1553149185 | Health Risk | Pathogenic | Brain malformations with or without urinary tract defects, Inborn genetic diseases, NFIA-related disorder |
| RS1553149206 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1553167851 | Health Risk | Pathogenic | — |
| RS1553180342 | Health Risk | Pathogenic | — |
| RS1553182933 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1553182964 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1557762822 | Health Risk | Pathogenic | — |
| RS1646253231 | Health Risk | Pathogenic | Chromosome 1p32-p31 deletion syndrome, Chromosome 1p32-p31 deletion syndrome |
| RS1646254633 | Health Risk | Pathogenic | Chromosome 1p32-p31 deletion syndrome, Chromosome 1p32-p31 deletion syndrome |
| RS1646260006 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2100414066 | Health Risk | Pathogenic | Chromosome 1p32-p31 deletion syndrome, Chromosome 1p32-p31 deletion syndrome |
| RS2100414291 | Health Risk | Pathogenic | — |
| RS2100414350 | Health Risk | Pathogenic | Brain malformations with or without urinary tract defects, Brain malformations with or without urinary tract defects |
| RS2100414587 | Health Risk | Pathogenic | — |
| RS2524179657 | Health Risk | Pathogenic | — |
| RS2524179770 | Health Risk | Pathogenic | — |
| RS2524179794 | Health Risk | Pathogenic | Brain malformations with or without urinary tract defects, Brain malformations with or without urinary tract defects |
| RS2524199429 | Health Risk | Pathogenic | — |
| RS2524200215 | Health Risk | Pathogenic | — |
| RS2524200716 | Health Risk | Pathogenic | — |
| RS2525137108 | Health Risk | Pathogenic | — |