CLDN19 Chromosome 1
Claudin 19
Upload your DNA to see your personal genotypes for variants in CLDN19.
What This Gene Does
The product of this gene belongs to the claudin family. It plays a major role in tight junction-specific obliteration of the intercellular space, through calcium-independent cell-adhesion activity. Defects in this gene are the cause of hypomagnesemia renal with ocular involvement (HOMGO). HOMGO is a progressive renal disease characterized by primary renal magnesium wasting with hypomagnesemia, hypercalciuria and nephrocalcinosis associated with severe ocular abnormalities such as bilateral chorioretinal scars, macular colobomata, significant myopia and nystagmus. Alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jun 2010]
Gene Info
Gene Group
Claudins
Locus Type
gene with protein product
Location
1p34.2
Ensembl
ENSG00000164007
Associated Conditions (5)
Inborn genetic diseases
Renal hypomagnesemia 5 with ocular involvement
CLDN19-related disorder
Nephrocalcinosis
Nephrolithiasis
Key Variants
RS140190002
Conflicting classifications of pathogenicity
Inborn genetic diseases, Renal hypomagnesemia 5 with ocular involvement, CLDN19-related disorder
Health Risk
RS34374110
Conflicting classifications of pathogenicity
Health Risk
RS746364980
Conflicting classifications of pathogenicity
Renal hypomagnesemia 5 with ocular involvement, Renal hypomagnesemia 5 with ocular involvement
Health Risk
RS772247940
Conflicting classifications of pathogenicity
Inborn genetic diseases, Renal hypomagnesemia 5 with ocular involvement, Inborn genetic diseases
Health Risk
RS776225389
Conflicting classifications of pathogenicity
Renal hypomagnesemia 5 with ocular involvement, Inborn genetic diseases, Renal hypomagnesemia 5 with ocular involvement
Health Risk
RS1303732063
Likely pathogenic
Renal hypomagnesemia 5 with ocular involvement, Renal hypomagnesemia 5 with ocular involvement
Health Risk
RS145591298
Likely pathogenic
Nephrocalcinosis, Nephrolithiasis, Renal hypomagnesemia 5 with ocular involvement
Health Risk
RS1651357824
Likely pathogenic
Renal hypomagnesemia 5 with ocular involvement, Renal hypomagnesemia 5 with ocular involvement
Health Risk
RS553635114
Likely pathogenic
Renal hypomagnesemia 5 with ocular involvement, Renal hypomagnesemia 5 with ocular involvement
Health Risk
RS973088841
Likely pathogenic
Renal hypomagnesemia 5 with ocular involvement, Renal hypomagnesemia 5 with ocular involvement
Health Risk
RS118203980
Pathogenic
Renal hypomagnesemia 5 with ocular involvement, Renal hypomagnesemia 5 with ocular involvement, Renal hypomagnesemia 5 with ocular involvement
Health Risk
RS1557551678
Pathogenic
Renal hypomagnesemia 5 with ocular involvement, Renal hypomagnesemia 5 with ocular involvement
Health Risk
All Variants (18)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS140190002 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Renal hypomagnesemia 5 with ocular involvement, CLDN19-related disorder |
| RS34374110 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS746364980 | Health Risk | Conflicting classifications of pathogenicity | Renal hypomagnesemia 5 with ocular involvement, Renal hypomagnesemia 5 with ocular involvement |
| RS772247940 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Renal hypomagnesemia 5 with ocular involvement, Inborn genetic diseases |
| RS776225389 | Health Risk | Conflicting classifications of pathogenicity | Renal hypomagnesemia 5 with ocular involvement, Inborn genetic diseases, Renal hypomagnesemia 5 with ocular involvement |
| RS1303732063 | Health Risk | Likely pathogenic | Renal hypomagnesemia 5 with ocular involvement, Renal hypomagnesemia 5 with ocular involvement |
| RS145591298 | Health Risk | Likely pathogenic | Nephrocalcinosis, Nephrolithiasis, Renal hypomagnesemia 5 with ocular involvement |
| RS1651357824 | Health Risk | Likely pathogenic | Renal hypomagnesemia 5 with ocular involvement, Renal hypomagnesemia 5 with ocular involvement |
| RS553635114 | Health Risk | Likely pathogenic | Renal hypomagnesemia 5 with ocular involvement, Renal hypomagnesemia 5 with ocular involvement |
| RS973088841 | Health Risk | Likely pathogenic | Renal hypomagnesemia 5 with ocular involvement, Renal hypomagnesemia 5 with ocular involvement |
| RS118203980 | Health Risk | Pathogenic | Renal hypomagnesemia 5 with ocular involvement, Renal hypomagnesemia 5 with ocular involvement, Renal hypomagnesemia 5 with ocular involvement |
| RS1557551678 | Health Risk | Pathogenic | Renal hypomagnesemia 5 with ocular involvement, Renal hypomagnesemia 5 with ocular involvement |
| RS2124044159 | Health Risk | Pathogenic | Renal hypomagnesemia 5 with ocular involvement, Renal hypomagnesemia 5 with ocular involvement |
| RS2524372801 | Health Risk | Pathogenic | Renal hypomagnesemia 5 with ocular involvement, Renal hypomagnesemia 5 with ocular involvement |
| RS746201648 | Health Risk | Pathogenic | — |
| RS118203979 | Health Risk | Pathogenic/Likely pathogenic | Renal hypomagnesemia 5 with ocular involvement, CLDN19-related disorder, Renal hypomagnesemia 5 with ocular involvement |
| RS118203981 | Health Risk | Pathogenic/Likely pathogenic | Renal hypomagnesemia 5 with ocular involvement, Renal hypomagnesemia 5 with ocular involvement, Renal hypomagnesemia 5 with ocular involvement |
| RS780082160 | Health Risk | Pathogenic/Likely pathogenic | Renal hypomagnesemia 5 with ocular involvement, Renal hypomagnesemia 5 with ocular involvement |