SLC4A11 Chromosome 20

Solute carrier family 4 member 11
187 variants 187 Health Risk

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What This Gene Does
This gene encodes a voltage-regulated, electrogenic sodium-coupled borate cotransporter that is essential for borate homeostasis, cell growth and cell proliferation. Mutations in this gene have been associated with a number of endothelial corneal dystrophies including recessive corneal endothelial dystrophy 2, corneal dystrophy and perceptive deafness, and Fuchs endothelial corneal dystrophy. Multiple transcript variants encoding different isoforms have been described. [provided by RefSeq, Mar 2010]
Gene Info
Gene Group
Solute carrier family 4
Locus Type
gene with protein product
Location
20p13
Ensembl
ENSG00000088836
Associated Conditions (12)
Corneal dystrophy-perceptive deafness syndrome
Corneal dystrophy
SLC4A11-related disorder
Congenital hereditary endothelial dystrophy of cornea
Fuchs endothelial
4
Inborn genetic diseases
Posterior polymorphous corneal dystrophy 1
Ovarian serous cystadenocarcinoma
Thyroid cancer
nonmedullary
1
Key Variants
RS112163941
Conflicting classifications of pathogenicity
Corneal dystrophy-perceptive deafness syndrome, Corneal dystrophy, SLC4A11-related disorder
Health Risk
RS117959552
Conflicting classifications of pathogenicity
Corneal dystrophy, Corneal dystrophy-perceptive deafness syndrome, Corneal dystrophy
Health Risk
RS138137682
Conflicting classifications of pathogenicity
Corneal dystrophy, Congenital hereditary endothelial dystrophy of cornea, Corneal dystrophy-perceptive deafness syndrome
Health Risk
RS138262189
Conflicting classifications of pathogenicity
Corneal dystrophy, Corneal dystrophy-perceptive deafness syndrome, Congenital hereditary endothelial dystrophy of cornea
Health Risk
RS139078082
Conflicting classifications of pathogenicity
Corneal dystrophy, Corneal dystrophy
Health Risk
RS139297339
Conflicting classifications of pathogenicity
Corneal dystrophy-perceptive deafness syndrome, Corneal dystrophy, Corneal dystrophy-perceptive deafness syndrome
Health Risk
RS1396963242
Conflicting classifications of pathogenicity
Health Risk
RS139941321
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS140234175
Conflicting classifications of pathogenicity
Corneal dystrophy, Corneal dystrophy-perceptive deafness syndrome, Corneal dystrophy
Health Risk
RS140461431
Conflicting classifications of pathogenicity
Corneal dystrophy, Corneal dystrophy-perceptive deafness syndrome, Corneal dystrophy
Health Risk
RS140689149
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS141079217
Conflicting classifications of pathogenicity
Corneal dystrophy, Corneal dystrophy-perceptive deafness syndrome, Corneal dystrophy
Health Risk
All Variants (187)
RSID Category Clinical Significance Conditions
RS112163941 Health Risk Conflicting classifications of pathogenicity Corneal dystrophy-perceptive deafness syndrome, Corneal dystrophy, SLC4A11-related disorder
RS117959552 Health Risk Conflicting classifications of pathogenicity Corneal dystrophy, Corneal dystrophy-perceptive deafness syndrome, Corneal dystrophy
RS138137682 Health Risk Conflicting classifications of pathogenicity Corneal dystrophy, Congenital hereditary endothelial dystrophy of cornea, Corneal dystrophy-perceptive deafness syndrome
RS138262189 Health Risk Conflicting classifications of pathogenicity Corneal dystrophy, Corneal dystrophy-perceptive deafness syndrome, Congenital hereditary endothelial dystrophy of cornea
RS139078082 Health Risk Conflicting classifications of pathogenicity Corneal dystrophy, Corneal dystrophy
RS139297339 Health Risk Conflicting classifications of pathogenicity Corneal dystrophy-perceptive deafness syndrome, Corneal dystrophy, Corneal dystrophy-perceptive deafness syndrome
RS1396963242 Health Risk Conflicting classifications of pathogenicity —
RS139941321 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS140234175 Health Risk Conflicting classifications of pathogenicity Corneal dystrophy, Corneal dystrophy-perceptive deafness syndrome, Corneal dystrophy
RS140461431 Health Risk Conflicting classifications of pathogenicity Corneal dystrophy, Corneal dystrophy-perceptive deafness syndrome, Corneal dystrophy
RS140689149 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS141079217 Health Risk Conflicting classifications of pathogenicity Corneal dystrophy, Corneal dystrophy-perceptive deafness syndrome, Corneal dystrophy
RS141705330 Health Risk Conflicting classifications of pathogenicity Corneal dystrophy, Corneal dystrophy-perceptive deafness syndrome, Corneal dystrophy
RS144123179 Health Risk Conflicting classifications of pathogenicity Corneal dystrophy, Corneal dystrophy-perceptive deafness syndrome, Corneal dystrophy
RS144285319 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS147324566 Health Risk Conflicting classifications of pathogenicity Corneal dystrophy, Corneal dystrophy-perceptive deafness syndrome, Inborn genetic diseases
RS148613811 Health Risk Conflicting classifications of pathogenicity Corneal dystrophy, Inborn genetic diseases, Corneal dystrophy
RS149016022 Health Risk Conflicting classifications of pathogenicity Corneal dystrophy, SLC4A11-related disorder, Corneal dystrophy
RS149866580 Health Risk Conflicting classifications of pathogenicity Corneal dystrophy, Corneal dystrophy-perceptive deafness syndrome, Corneal dystrophy
RS149912717 Health Risk Conflicting classifications of pathogenicity Corneal dystrophy, Corneal dystrophy-perceptive deafness syndrome, Congenital hereditary endothelial dystrophy of cornea
RS150446005 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS190463957 Health Risk Conflicting classifications of pathogenicity Corneal dystrophy, Corneal dystrophy-perceptive deafness syndrome, Corneal dystrophy
RS193080010 Health Risk Conflicting classifications of pathogenicity Corneal dystrophy, Corneal dystrophy-perceptive deafness syndrome, Corneal dystrophy
RS199569836 Health Risk Conflicting classifications of pathogenicity Corneal dystrophy, Corneal dystrophy
RS199634796 Health Risk Conflicting classifications of pathogenicity Corneal dystrophy, Corneal dystrophy-perceptive deafness syndrome, Corneal dystrophy
RS200343026 Health Risk Conflicting classifications of pathogenicity Corneal dystrophy, Corneal dystrophy-perceptive deafness syndrome, Inborn genetic diseases
RS200879869 Health Risk Conflicting classifications of pathogenicity Corneal dystrophy, Corneal dystrophy-perceptive deafness syndrome, Inborn genetic diseases
RS200921422 Health Risk Conflicting classifications of pathogenicity Corneal dystrophy, Corneal dystrophy
RS200962876 Health Risk Conflicting classifications of pathogenicity Corneal dystrophy, Corneal dystrophy-perceptive deafness syndrome, Corneal dystrophy
RS201595005 Health Risk Conflicting classifications of pathogenicity Corneal dystrophy, Corneal dystrophy-perceptive deafness syndrome, SLC4A11-related disorder
RS201619917 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201799793 Health Risk Conflicting classifications of pathogenicity Corneal dystrophy, Corneal dystrophy-perceptive deafness syndrome, Corneal dystrophy
RS202002249 Health Risk Conflicting classifications of pathogenicity Corneal dystrophy, Corneal dystrophy
RS2067679229 Health Risk Conflicting classifications of pathogenicity Corneal dystrophy, Corneal dystrophy
RS267607066 Health Risk Conflicting classifications of pathogenicity Corneal dystrophy, Fuchs endothelial, 4
RS34224785 Health Risk Conflicting classifications of pathogenicity Posterior polymorphous corneal dystrophy 1, Corneal dystrophy, Corneal dystrophy-perceptive deafness syndrome
RS35262978 Health Risk Conflicting classifications of pathogenicity Corneal dystrophy-perceptive deafness syndrome, Corneal dystrophy, SLC4A11-related disorder
RS367721824 Health Risk Conflicting classifications of pathogenicity Corneal dystrophy, Corneal dystrophy-perceptive deafness syndrome, Corneal dystrophy
RS368001060 Health Risk Conflicting classifications of pathogenicity Corneal dystrophy, Corneal dystrophy-perceptive deafness syndrome, Corneal dystrophy
RS373231267 Health Risk Conflicting classifications of pathogenicity Corneal dystrophy, Corneal dystrophy
RS376622984 Health Risk Conflicting classifications of pathogenicity Corneal dystrophy, Corneal dystrophy
RS377025499 Health Risk Conflicting classifications of pathogenicity Corneal dystrophy, Corneal dystrophy
RS3827075 Health Risk Conflicting classifications of pathogenicity Corneal dystrophy, Corneal dystrophy-perceptive deafness syndrome, Congenital hereditary endothelial dystrophy of cornea
RS533752647 Health Risk Conflicting classifications of pathogenicity Corneal dystrophy, Inborn genetic diseases, Corneal dystrophy
RS577502313 Health Risk Conflicting classifications of pathogenicity Corneal dystrophy, Corneal dystrophy-perceptive deafness syndrome, Corneal dystrophy
RS62208067 Health Risk Conflicting classifications of pathogenicity Corneal dystrophy, Corneal dystrophy-perceptive deafness syndrome, Corneal dystrophy
RS7262506 Health Risk Conflicting classifications of pathogenicity Corneal dystrophy, Corneal dystrophy-perceptive deafness syndrome, Corneal dystrophy
RS748362724 Health Risk Conflicting classifications of pathogenicity Corneal dystrophy-perceptive deafness syndrome, Corneal dystrophy-perceptive deafness syndrome
RS755312854 Health Risk Conflicting classifications of pathogenicity Corneal dystrophy, Corneal dystrophy
RS760670114 Health Risk Conflicting classifications of pathogenicity Corneal dystrophy, Corneal dystrophy-perceptive deafness syndrome, Corneal dystrophy
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