NIPAL4 Chromosome 5
NIPA like domain containing 4
Upload your DNA to see your personal genotypes for variants in NIPAL4.
What This Gene Does
This gene likely encodes a membrane receptor. Mutations in this gene have been associated with autosomal recessive congenital ichthyosis. [provided by RefSeq, Feb 2010]
Gene Info
Gene Group
Solute carrier family 57, NIPA-like magnesium transporters
Locus Type
gene with protein product
Location
5q33.3
Ensembl
ENSG00000172548
Associated Conditions (10)
Autosomal recessive congenital ichthyosis 6
NIPAL4-related disorder
Sarcoma
Clear cell carcinoma of kidney
Inborn genetic diseases
Lamellar ichthyosis
Cervical cancer
Erythrokeratodermia variabilis et progressiva 1
Autosomal recessive congenital ichthyosis
Ichthyosis and erythrokeratoderma
Key Variants
RS137909022
Conflicting classifications of pathogenicity
Autosomal recessive congenital ichthyosis 6, Autosomal recessive congenital ichthyosis 6
Health Risk
RS188020393
Conflicting classifications of pathogenicity
Autosomal recessive congenital ichthyosis 6, NIPAL4-related disorder, Autosomal recessive congenital ichthyosis 6
Health Risk
RS200183918
Conflicting classifications of pathogenicity
Autosomal recessive congenital ichthyosis 6, Sarcoma, Clear cell carcinoma of kidney
Health Risk
RS200497471
Conflicting classifications of pathogenicity
Autosomal recessive congenital ichthyosis 6, NIPAL4-related disorder, Autosomal recessive congenital ichthyosis 6
Health Risk
RS201852049
Conflicting classifications of pathogenicity
Autosomal recessive congenital ichthyosis 6, Autosomal recessive congenital ichthyosis 6
Health Risk
RS367993555
Conflicting classifications of pathogenicity
Autosomal recessive congenital ichthyosis 6, Inborn genetic diseases, Autosomal recessive congenital ichthyosis 6
Health Risk
RS371736153
Conflicting classifications of pathogenicity
Autosomal recessive congenital ichthyosis 6, Autosomal recessive congenital ichthyosis 6
Health Risk
RS374829524
Conflicting classifications of pathogenicity
Autosomal recessive congenital ichthyosis 6, Autosomal recessive congenital ichthyosis 6
Health Risk
RS375721791
Conflicting classifications of pathogenicity
Autosomal recessive congenital ichthyosis 6, Autosomal recessive congenital ichthyosis 6
Health Risk
RS376074083
Conflicting classifications of pathogenicity
Autosomal recessive congenital ichthyosis 6, Lamellar ichthyosis, Cervical cancer
Health Risk
RS777285586
Conflicting classifications of pathogenicity
Autosomal recessive congenital ichthyosis 6, Autosomal recessive congenital ichthyosis 6
Health Risk
RS1255386092
Likely pathogenic
Health Risk
All Variants (42)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS137909022 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive congenital ichthyosis 6, Autosomal recessive congenital ichthyosis 6 |
| RS188020393 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive congenital ichthyosis 6, NIPAL4-related disorder, Autosomal recessive congenital ichthyosis 6 |
| RS200183918 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive congenital ichthyosis 6, Sarcoma, Clear cell carcinoma of kidney |
| RS200497471 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive congenital ichthyosis 6, NIPAL4-related disorder, Autosomal recessive congenital ichthyosis 6 |
| RS201852049 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive congenital ichthyosis 6, Autosomal recessive congenital ichthyosis 6 |
| RS367993555 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive congenital ichthyosis 6, Inborn genetic diseases, Autosomal recessive congenital ichthyosis 6 |
| RS371736153 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive congenital ichthyosis 6, Autosomal recessive congenital ichthyosis 6 |
| RS374829524 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive congenital ichthyosis 6, Autosomal recessive congenital ichthyosis 6 |
| RS375721791 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive congenital ichthyosis 6, Autosomal recessive congenital ichthyosis 6 |
| RS376074083 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive congenital ichthyosis 6, Lamellar ichthyosis, Cervical cancer |
| RS777285586 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive congenital ichthyosis 6, Autosomal recessive congenital ichthyosis 6 |
| RS1255386092 | Health Risk | Likely pathogenic | — |
| RS1258173126 | Health Risk | Likely pathogenic | Lamellar ichthyosis, Lamellar ichthyosis |
| RS1754471135 | Health Risk | Likely pathogenic | Autosomal recessive congenital ichthyosis 6, Autosomal recessive congenital ichthyosis 6 |
| RS2113670056 | Health Risk | Likely pathogenic | Erythrokeratodermia variabilis et progressiva 1, Erythrokeratodermia variabilis et progressiva 1 |
| RS2532907239 | Health Risk | Likely pathogenic | Lamellar ichthyosis, Lamellar ichthyosis |
| RS1027052344 | Health Risk | Pathogenic | Autosomal recessive congenital ichthyosis 6, Autosomal recessive congenital ichthyosis 6 |
| RS1212378071 | Health Risk | Pathogenic | Autosomal recessive congenital ichthyosis 6, Autosomal recessive congenital ichthyosis 6 |
| RS1452328130 | Health Risk | Pathogenic | Autosomal recessive congenital ichthyosis 6, Autosomal recessive congenital ichthyosis 6 |
| RS1561831443 | Health Risk | Pathogenic | Autosomal recessive congenital ichthyosis 6, Autosomal recessive congenital ichthyosis 6 |
| RS1561831582 | Health Risk | Pathogenic | Autosomal recessive congenital ichthyosis 6, Autosomal recessive congenital ichthyosis 6 |
| RS1581262988 | Health Risk | Pathogenic | Autosomal recessive congenital ichthyosis 6, Autosomal recessive congenital ichthyosis 6 |
| RS1581265561 | Health Risk | Pathogenic | Autosomal recessive congenital ichthyosis 6, Autosomal recessive congenital ichthyosis 6 |
| RS1581269752 | Health Risk | Pathogenic | Autosomal recessive congenital ichthyosis 6, Autosomal recessive congenital ichthyosis 6 |
| RS1581271844 | Health Risk | Pathogenic | Autosomal recessive congenital ichthyosis 6, Autosomal recessive congenital ichthyosis 6 |
| RS1581271869 | Health Risk | Pathogenic | Autosomal recessive congenital ichthyosis 6, Autosomal recessive congenital ichthyosis 6 |
| RS1581272003 | Health Risk | Pathogenic | Autosomal recessive congenital ichthyosis 6, Autosomal recessive congenital ichthyosis 6 |
| RS1581272834 | Health Risk | Pathogenic | Autosomal recessive congenital ichthyosis 6, Autosomal recessive congenital ichthyosis 6 |
| RS1581273254 | Health Risk | Pathogenic | Autosomal recessive congenital ichthyosis 6, Autosomal recessive congenital ichthyosis 6 |
| RS199422216 | Health Risk | Pathogenic | Autosomal recessive congenital ichthyosis 6, Lamellar ichthyosis, Autosomal recessive congenital ichthyosis 6 |
| RS2113663875 | Health Risk | Pathogenic | — |
| RS2532888517 | Health Risk | Pathogenic | — |
| RS370356566 | Health Risk | Pathogenic | Lamellar ichthyosis, Autosomal recessive congenital ichthyosis 6, Autosomal recessive congenital ichthyosis |
| RS371608909 | Health Risk | Pathogenic | Autosomal recessive congenital ichthyosis 6, Autosomal recessive congenital ichthyosis 6 |
| RS373501601 | Health Risk | Pathogenic | Autosomal recessive congenital ichthyosis 6, Autosomal recessive congenital ichthyosis 6 |
| RS375688767 | Health Risk | Pathogenic | Autosomal recessive congenital ichthyosis 6, Lamellar ichthyosis, Autosomal recessive congenital ichthyosis 6 |
| RS775903553 | Health Risk | Pathogenic | Autosomal recessive congenital ichthyosis 6, Autosomal recessive congenital ichthyosis 6 |
| RS777992589 | Health Risk | Pathogenic | Autosomal recessive congenital ichthyosis 6, Autosomal recessive congenital ichthyosis 6 |
| RS886060339 | Health Risk | Pathogenic | Autosomal recessive congenital ichthyosis 6, Autosomal recessive congenital ichthyosis 6 |
| RS900769357 | Health Risk | Pathogenic | Autosomal recessive congenital ichthyosis 6, Autosomal recessive congenital ichthyosis 6 |
| RS1754350429 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive congenital ichthyosis 6, Autosomal recessive congenital ichthyosis 6 |
| RS199422217 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive congenital ichthyosis 6, Autosomal recessive congenital ichthyosis, Lamellar ichthyosis |