CLCN4 Chromosome X
Cl-/H+ antiporter 4
Upload your DNA to see your personal genotypes for variants in CLCN4.
What This Gene Does
The CLCN family of voltage-dependent chloride channel genes comprises nine members (CLCN1-7, Ka and Kb) which demonstrate quite diverse functional characteristics while sharing significant sequence homology. Chloride channel 4 has an evolutionary conserved CpG island and is conserved in both mouse and hamster. This gene is mapped in close proximity to APXL (Apical protein Xenopus laevis-like) and OA1 (Ocular albinism type I), which are both located on the human X chromosome at band p22.3. The physiological role of chloride channel 4 remains unknown but may contribute to the pathogenesis of neuronal disorders. Alternate splicing results in two transcript variants that encode different proteins. [provided by RefSeq, Mar 2012]
Gene Info
Gene Group
CLC chloride channel and transporter family
Locus Type
gene with protein product
Location
Xp22.2
Ensembl
ENSG00000073464
Associated Conditions (9)
Intellectual disability
X-linked 49
Inborn genetic diseases
Clear cell carcinoma of kidney
CLCN4-related disorder
Thyroid cancer
nonmedullary
1
See cases
Key Variants
RS1042357480
Conflicting classifications of pathogenicity
Intellectual disability, X-linked 49, Inborn genetic diseases
Health Risk
RS1057523693
Conflicting classifications of pathogenicity
Health Risk
RS1268937457
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1374813094
Conflicting classifications of pathogenicity
Intellectual disability, X-linked 49, Intellectual disability
Health Risk
RS1402967241
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1555973635
Conflicting classifications of pathogenicity
Intellectual disability, X-linked 49, Intellectual disability
Health Risk
RS1555976973
Conflicting classifications of pathogenicity
Intellectual disability, X-linked 49, Intellectual disability
Health Risk
RS1569230484
Conflicting classifications of pathogenicity
Health Risk
RS1602157389
Conflicting classifications of pathogenicity
Intellectual disability, X-linked 49, Clear cell carcinoma of kidney
Health Risk
RS184264157
Conflicting classifications of pathogenicity
Health Risk
RS1924842665
Conflicting classifications of pathogenicity
Intellectual disability, X-linked 49, CLCN4-related disorder
Health Risk
RS192492405
Conflicting classifications of pathogenicity
Health Risk
All Variants (71)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1042357480 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, X-linked 49, Inborn genetic diseases |
| RS1057523693 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1268937457 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1374813094 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, X-linked 49, Intellectual disability |
| RS1402967241 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1555973635 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, X-linked 49, Intellectual disability |
| RS1555976973 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, X-linked 49, Intellectual disability |
| RS1569230484 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1602157389 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, X-linked 49, Clear cell carcinoma of kidney |
| RS184264157 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1924842665 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, X-linked 49, CLCN4-related disorder |
| RS192492405 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2147179530 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, X-linked 49, Intellectual disability |
| RS2147182742 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2518884296 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, X-linked 49, Intellectual disability |
| RS376745468 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Intellectual disability, X-linked 49 |
| RS398123627 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS747118105 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS748363549 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS748967139 | Health Risk | Conflicting classifications of pathogenicity | Thyroid cancer, nonmedullary, 1 |
| RS749421891 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS766106748 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS769632007 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS779824005 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, See cases, Intellectual disability |
| RS879255585 | Health Risk | Conflicting classifications of pathogenicity | CLCN4-related disorder, Intellectual disability, X-linked 49 |
| RS879255590 | Health Risk | Conflicting classifications of pathogenicity | CLCN4-related disorder, CLCN4-related disorder |
| RS879255591 | Health Risk | Conflicting classifications of pathogenicity | CLCN4-related disorder, CLCN4-related disorder |
| RS1131691687 | Health Risk | Likely pathogenic | CLCN4-related disorder, CLCN4-related disorder |
| RS1555976161 | Health Risk | Likely pathogenic | — |
| RS1555976933 | Health Risk | Likely pathogenic | — |
| RS1555977164 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1555977174 | Health Risk | Likely pathogenic | — |
| RS1602159841 | Health Risk | Likely pathogenic | Intellectual disability, X-linked 49, Intellectual disability |
| RS1924061524 | Health Risk | Likely pathogenic | Intellectual disability, X-linked 49, Intellectual disability |
| RS1924392577 | Health Risk | Likely pathogenic | — |
| RS1924399093 | Health Risk | Likely pathogenic | Intellectual disability, X-linked 49, Intellectual disability |
| RS1924450715 | Health Risk | Likely pathogenic | Intellectual disability, X-linked 49, Intellectual disability |
| RS1924631837 | Health Risk | Likely pathogenic | Intellectual disability, X-linked 49, Intellectual disability |
| RS2147178526 | Health Risk | Likely pathogenic | Intellectual disability, X-linked 49, Intellectual disability |
| RS2147179477 | Health Risk | Likely pathogenic | — |
| RS2147182584 | Health Risk | Likely pathogenic | — |
| RS2518884246 | Health Risk | Likely pathogenic | Intellectual disability, X-linked 49, Intellectual disability |
| RS2518884516 | Health Risk | Likely pathogenic | Intellectual disability, X-linked 49, Intellectual disability |
| RS2518884524 | Health Risk | Likely pathogenic | Intellectual disability, X-linked 49, Intellectual disability |
| RS2518889369 | Health Risk | Likely pathogenic | Intellectual disability, X-linked 49, Intellectual disability |
| RS2518892925 | Health Risk | Likely pathogenic | Intellectual disability, X-linked 49, Intellectual disability |
| RS1569230006 | Health Risk | Pathogenic | Intellectual disability, X-linked 49, Intellectual disability |
| RS1569231897 | Health Risk | Pathogenic | Intellectual disability, X-linked 49, Intellectual disability |
| RS1569233549 | Health Risk | Pathogenic | Intellectual disability, X-linked 49, Intellectual disability |
| RS1923775114 | Health Risk | Pathogenic | Intellectual disability, X-linked 49, Intellectual disability |