CLCN7 Chromosome 16
Cl-/H+ antiporter 7
Upload your DNA to see your personal genotypes for variants in CLCN7.
What This Gene Does
The product of this gene belongs to the CLC chloride channel family of proteins. Chloride channels play important roles in the plasma membrane and in intracellular organelles. This gene encodes chloride channel 7. Defects in this gene are the cause of osteopetrosis autosomal recessive type 4 (OPTB4), also called infantile malignant osteopetrosis type 2 as well as the cause of autosomal dominant osteopetrosis type 2 (OPTA2), also called autosomal dominant Albers-Schonberg disease or marble disease autosoml dominant. Osteopetrosis is a rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. OPTA2 is the most common form of osteopetrosis, occurring in adolescence or adulthood. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"CLC chloride channel and transporter family|Protein phosphatase 1 regulatory subunits"
Locus Type
gene with protein product
Location
16p13.3
Ensembl
ENSG00000103249
Associated Conditions (14)
Osteopetrosis
Autosomal recessive osteopetrosis 4
CLCN7-related disorder
Ovarian serous cystadenocarcinoma
Thyroid cancer
nonmedullary
1
Inborn genetic diseases
Autosomal dominant osteopetrosis 2
Hypopigmentation
organomegaly
and delayed myelination and development
Disorder of bone
Abnormality of the skeletal system
Key Variants
RS1032878925
Conflicting classifications of pathogenicity
Osteopetrosis, Osteopetrosis
Health Risk
RS1163577336
Conflicting classifications of pathogenicity
Autosomal recessive osteopetrosis 4, Autosomal recessive osteopetrosis 4
Health Risk
RS1164202590
Conflicting classifications of pathogenicity
Health Risk
RS11861560
Conflicting classifications of pathogenicity
Osteopetrosis, CLCN7-related disorder, Osteopetrosis
Health Risk
RS1188556155
Conflicting classifications of pathogenicity
Osteopetrosis, Osteopetrosis
Health Risk
RS1191046309
Conflicting classifications of pathogenicity
Osteopetrosis, Osteopetrosis
Health Risk
RS1395527274
Conflicting classifications of pathogenicity
Osteopetrosis, Autosomal recessive osteopetrosis 4, Osteopetrosis
Health Risk
RS139649449
Conflicting classifications of pathogenicity
Osteopetrosis, CLCN7-related disorder, Ovarian serous cystadenocarcinoma
Health Risk
RS142186742
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS143025396
Conflicting classifications of pathogenicity
Osteopetrosis, Osteopetrosis
Health Risk
RS145267254
Conflicting classifications of pathogenicity
Osteopetrosis, Osteopetrosis
Health Risk
RS145286036
Conflicting classifications of pathogenicity
Osteopetrosis, Osteopetrosis
Health Risk
All Variants (148)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2505822019 | Health Risk | Likely pathogenic | Autosomal recessive osteopetrosis 4, Autosomal recessive osteopetrosis 4 |
| RS2505835772 | Health Risk | Likely pathogenic | — |
| RS2505837220 | Health Risk | Likely pathogenic | — |
| RS2505848226 | Health Risk | Likely pathogenic | — |
| RS2505854274 | Health Risk | Likely pathogenic | — |
| RS772016816 | Health Risk | Likely pathogenic | — |
| RS779900843 | Health Risk | Likely pathogenic | — |
| RS977932714 | Health Risk | Likely pathogenic | — |
| RS1057517718 | Health Risk | Pathogenic | Hypopigmentation, organomegaly, and delayed myelination and development |
| RS1161063400 | Health Risk | Pathogenic | — |
| RS121434432 | Health Risk | Pathogenic | Autosomal recessive osteopetrosis 4, Autosomal recessive osteopetrosis 4 |
| RS121434433 | Health Risk | Pathogenic | Autosomal recessive osteopetrosis 4, Autosomal recessive osteopetrosis 4 |
| RS121434434 | Health Risk | Pathogenic | Autosomal recessive osteopetrosis 4, Autosomal recessive osteopetrosis 4 |
| RS121434435 | Health Risk | Pathogenic | Autosomal dominant osteopetrosis 2, Autosomal recessive osteopetrosis 4, Autosomal dominant osteopetrosis 2 |
| RS121434436 | Health Risk | Pathogenic | Autosomal recessive osteopetrosis 4, Autosomal recessive osteopetrosis 4 |
| RS1261991162 | Health Risk | Pathogenic | Autosomal dominant osteopetrosis 2, Autosomal dominant osteopetrosis 2 |
| RS1360480518 | Health Risk | Pathogenic | — |
| RS1417753527 | Health Risk | Pathogenic | — |
| RS1437680207 | Health Risk | Pathogenic | — |
| RS1567263375 | Health Risk | Pathogenic | Autosomal recessive osteopetrosis 4, Autosomal recessive osteopetrosis 4 |
| RS2038825509 | Health Risk | Pathogenic | Autosomal dominant osteopetrosis 2, CLCN7-related disorder, Autosomal dominant osteopetrosis 2 |
| RS2142366086 | Health Risk | Pathogenic | — |
| RS2142366092 | Health Risk | Pathogenic | Autosomal dominant osteopetrosis 2, Autosomal dominant osteopetrosis 2 |
| RS2142372943 | Health Risk | Pathogenic | — |
| RS2142410876 | Health Risk | Pathogenic | — |
| RS2505813091 | Health Risk | Pathogenic | — |
| RS2505824870 | Health Risk | Pathogenic | — |
| RS2505833420 | Health Risk | Pathogenic | Autosomal recessive osteopetrosis 4, Autosomal recessive osteopetrosis 4 |
| RS2505833486 | Health Risk | Pathogenic | — |
| RS2505840319 | Health Risk | Pathogenic | — |
| RS2505844147 | Health Risk | Pathogenic | — |
| RS2505845675 | Health Risk | Pathogenic | — |
| RS368190250 | Health Risk | Pathogenic | Autosomal recessive osteopetrosis 4, Autosomal recessive osteopetrosis 4 |
| RS397515539 | Health Risk | Pathogenic | Autosomal dominant osteopetrosis 2, CLCN7-related disorder, Autosomal dominant osteopetrosis 2 |
| RS749306669 | Health Risk | Pathogenic | — |
| RS751150295 | Health Risk | Pathogenic | — |
| RS755135552 | Health Risk | Pathogenic | — |
| RS922106856 | Health Risk | Pathogenic | Autosomal recessive osteopetrosis 4, Autosomal recessive osteopetrosis 4 |
| RS948980711 | Health Risk | Pathogenic | Autosomal recessive osteopetrosis 4, Autosomal recessive osteopetrosis 4 |
| RS1233085260 | Health Risk | Pathogenic/Likely pathogenic | Autosomal dominant osteopetrosis 2, Autosomal dominant osteopetrosis 2 |
| RS1291061962 | Health Risk | Pathogenic/Likely pathogenic | Autosomal dominant osteopetrosis 2, Disorder of bone, Autosomal dominant osteopetrosis 2 |
| RS1490598538 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive osteopetrosis 4, Autosomal recessive osteopetrosis 4 |
| RS367567630 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive osteopetrosis 4, Autosomal recessive osteopetrosis 4 |
| RS371893553 | Health Risk | Pathogenic/Likely pathogenic | Autosomal dominant osteopetrosis 2, Autosomal recessive osteopetrosis 4, Autosomal dominant osteopetrosis 2 |
| RS387907576 | Health Risk | Pathogenic/Likely pathogenic | Autosomal dominant osteopetrosis 2, Autosomal recessive osteopetrosis 4, Autosomal dominant osteopetrosis 2 |
| RS757198557 | Health Risk | Pathogenic/Likely pathogenic | Autosomal dominant osteopetrosis 2, Hypopigmentation, organomegaly |
| RS760956030 | Health Risk | Pathogenic/Likely pathogenic | Autosomal dominant osteopetrosis 2, Inborn genetic diseases, Abnormality of the skeletal system |
| RS865969846 | Health Risk | Pathogenic/Likely pathogenic | — |