NFIX Chromosome 19
Nuclear factor I X
Upload your DNA to see your personal genotypes for variants in NFIX.
What This Gene Does
The protein encoded by this gene is a transcription factor that binds the palindromic sequence 5'-TTGGCNNNNNGCCAA-3 in viral and cellular promoters. The encoded protein can also stimulate adenovirus replication in vitro. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2012]
Gene Info
Gene Group
Nuclear factor I family
Locus Type
gene with protein product
Location
19p13.13
Ensembl
ENSG00000008441
Associated Conditions (9)
Inborn genetic diseases
Malan overgrowth syndrome
Marshall-Smith syndrome
Intellectual disability
Marfanoid habitus and intellectual disability
15 conditions
Neurodevelopmental disorder
See cases
NFIX-related disorder
Key Variants
RS2013212122
Conflicting classifications of pathogenicity
Inborn genetic diseases, Malan overgrowth syndrome, Marshall-Smith syndrome
Health Risk
RS2016886281
Conflicting classifications of pathogenicity
Marshall-Smith syndrome, Malan overgrowth syndrome, Inborn genetic diseases
Health Risk
RS2017489032
Conflicting classifications of pathogenicity
Marshall-Smith syndrome, Malan overgrowth syndrome, Intellectual disability
Health Risk
RS2145192509
Conflicting classifications of pathogenicity
Malan overgrowth syndrome, Marshall-Smith syndrome, Inborn genetic diseases
Health Risk
RS755256552
Conflicting classifications of pathogenicity
Health Risk
RS758504284
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS773638667
Conflicting classifications of pathogenicity
Inborn genetic diseases, Marshall-Smith syndrome, Malan overgrowth syndrome
Health Risk
RS797044911
Conflicting classifications of pathogenicity
Inborn genetic diseases, Malan overgrowth syndrome, Marshall-Smith syndrome
Health Risk
RS929589127
Conflicting classifications of pathogenicity
Marshall-Smith syndrome, Malan overgrowth syndrome, Marshall-Smith syndrome
Health Risk
RS1057517936
Likely pathogenic
Health Risk
RS1252623910
Likely pathogenic
Malan overgrowth syndrome, Malan overgrowth syndrome, Malan overgrowth syndrome
Health Risk
RS1555696597
Likely pathogenic
Malan overgrowth syndrome, Marshall-Smith syndrome, Marfanoid habitus and intellectual disability
Health Risk
All Variants (137)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1555696603 | Health Risk | Pathogenic | Malan overgrowth syndrome, NFIX-related disorder, Malan overgrowth syndrome |
| RS1555696611 | Health Risk | Pathogenic | Marshall-Smith syndrome, Malan overgrowth syndrome, Marshall-Smith syndrome |
| RS1555696625 | Health Risk | Pathogenic | Marshall-Smith syndrome, Marshall-Smith syndrome |
| RS1555705276 | Health Risk | Pathogenic | — |
| RS1555705733 | Health Risk | Pathogenic | Marshall-Smith syndrome, Marshall-Smith syndrome |
| RS1555707363 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1568268397 | Health Risk | Pathogenic | Marshall-Smith syndrome, Malan overgrowth syndrome, Marshall-Smith syndrome |
| RS1599737421 | Health Risk | Pathogenic | Malan overgrowth syndrome, Marshall-Smith syndrome, Malan overgrowth syndrome |
| RS1599737896 | Health Risk | Pathogenic | — |
| RS1599738036 | Health Risk | Pathogenic | Marshall-Smith syndrome, Malan overgrowth syndrome, Marshall-Smith syndrome |
| RS1599738349 | Health Risk | Pathogenic | Marshall-Smith syndrome, Marshall-Smith syndrome |
| RS1599738608 | Health Risk | Pathogenic | — |
| RS1599844887 | Health Risk | Pathogenic | Marshall-Smith syndrome, Marshall-Smith syndrome |
| RS1599848690 | Health Risk | Pathogenic | Marshall-Smith syndrome, Marshall-Smith syndrome |
| RS1599855670 | Health Risk | Pathogenic | — |
| RS1599862139 | Health Risk | Pathogenic | Marshall-Smith syndrome, Marshall-Smith syndrome |
| RS1599862357 | Health Risk | Pathogenic | — |
| RS2013218777 | Health Risk | Pathogenic | Malan overgrowth syndrome, Marshall-Smith syndrome, Malan overgrowth syndrome |
| RS2013220573 | Health Risk | Pathogenic | Marshall-Smith syndrome, Marshall-Smith syndrome |
| RS2013220977 | Health Risk | Pathogenic | — |
| RS2013260314 | Health Risk | Pathogenic | — |
| RS2017487230 | Health Risk | Pathogenic | — |
| RS2018058219 | Health Risk | Pathogenic | Marshall-Smith syndrome, Marshall-Smith syndrome |
| RS2145191473 | Health Risk | Pathogenic | Malan overgrowth syndrome, Marshall-Smith syndrome, Malan overgrowth syndrome |
| RS2145191499 | Health Risk | Pathogenic | See cases, See cases |
| RS2145191618 | Health Risk | Pathogenic | Marshall-Smith syndrome, Marshall-Smith syndrome |
| RS2145191753 | Health Risk | Pathogenic | — |
| RS2145191979 | Health Risk | Pathogenic | Marshall-Smith syndrome, Malan overgrowth syndrome, Marshall-Smith syndrome |
| RS2145192570 | Health Risk | Pathogenic | Marshall-Smith syndrome, Malan overgrowth syndrome, Inborn genetic diseases |
| RS2145192919 | Health Risk | Pathogenic | — |
| RS2145430763 | Health Risk | Pathogenic | Malan overgrowth syndrome, Marshall-Smith syndrome, Malan overgrowth syndrome |
| RS2145432885 | Health Risk | Pathogenic | Marshall-Smith syndrome, Marshall-Smith syndrome |
| RS2145434937 | Health Risk | Pathogenic | Malan overgrowth syndrome, Malan overgrowth syndrome |
| RS2145443002 | Health Risk | Pathogenic | Malan overgrowth syndrome, Malan overgrowth syndrome |
| RS2145459429 | Health Risk | Pathogenic | Marshall-Smith syndrome, Malan overgrowth syndrome, Marshall-Smith syndrome |
| RS2145475371 | Health Risk | Pathogenic | Marshall-Smith syndrome, Marshall-Smith syndrome |
| RS2512742281 | Health Risk | Pathogenic | Malan overgrowth syndrome, Malan overgrowth syndrome |
| RS2512742400 | Health Risk | Pathogenic | Malan overgrowth syndrome, Malan overgrowth syndrome |
| RS2512742471 | Health Risk | Pathogenic | — |
| RS2512743361 | Health Risk | Pathogenic | Malan overgrowth syndrome, Malan overgrowth syndrome |
| RS2512744292 | Health Risk | Pathogenic | Malan overgrowth syndrome, Malan overgrowth syndrome |
| RS2512744631 | Health Risk | Pathogenic | Malan overgrowth syndrome, Marshall-Smith syndrome, Malan overgrowth syndrome |
| RS2512745517 | Health Risk | Pathogenic | Malan overgrowth syndrome, Malan overgrowth syndrome |
| RS2512745631 | Health Risk | Pathogenic | Malan overgrowth syndrome, Malan overgrowth syndrome |
| RS2512746397 | Health Risk | Pathogenic | Malan overgrowth syndrome, Malan overgrowth syndrome |
| RS2512746910 | Health Risk | Pathogenic | Marshall-Smith syndrome, Malan overgrowth syndrome, Marshall-Smith syndrome |
| RS2512747409 | Health Risk | Pathogenic | Marshall-Smith syndrome, Malan overgrowth syndrome, Marshall-Smith syndrome |
| RS2512747813 | Health Risk | Pathogenic | Marshall-Smith syndrome, Malan overgrowth syndrome, Marshall-Smith syndrome |
| RS2512941801 | Health Risk | Pathogenic | Marshall-Smith syndrome, Malan overgrowth syndrome, Marshall-Smith syndrome |
| RS2512951618 | Health Risk | Pathogenic | Malan overgrowth syndrome, Malan overgrowth syndrome |