DST Chromosome 6

Dystonin
210 variants 210 Health Risk

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What This Gene Does
This gene encodes a member of the plakin protein family of adhesion junction plaque proteins. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene, but the full-length nature of some variants has not been defined. It has been reported that some isoforms are expressed in neural and muscle tissue, anchoring neural intermediate filaments to the actin cytoskeleton, and some isoforms are expressed in epithelial tissue, anchoring keratin-containing intermediate filaments to hemidesmosomes. Consistent with the expression, mice defective for this gene show skin blistering and neurodegeneration. [provided by RefSeq, Mar 2010]
Gene Info
Gene Group
"EF-hand domain containing|Plakins|Spectrin repeat containing"
Locus Type
gene with protein product
Location
6p12.1
Ensembl
ENSG00000151914
Associated Conditions (14)
Autism spectrum disorder
Epidermolysis bullosa simplex 3
localized or generalized intermediate
with BP230 deficiency
Hereditary sensory and autonomic neuropathy type 6
Inborn genetic diseases
DST-related disorder
Multiple sclerosis
Familial cancer of breast
Distal spinal muscular atrophy
Congenital contracture
Cardiomyopathy
Hypotonia
Global developmental delay
Key Variants
RS1824238311
association
Autism spectrum disorder, Autism spectrum disorder
Health Risk
RS1020828510
Conflicting classifications of pathogenicity
Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
Health Risk
RS112473525
Conflicting classifications of pathogenicity
Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3, localized or generalized intermediate
Health Risk
RS112635185
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS116774070
Conflicting classifications of pathogenicity
Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
Health Risk
RS1213338072
Conflicting classifications of pathogenicity
Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3, localized or generalized intermediate
Health Risk
RS138185589
Conflicting classifications of pathogenicity
Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3, localized or generalized intermediate
Health Risk
RS138553142
Conflicting classifications of pathogenicity
Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3, localized or generalized intermediate
Health Risk
RS141523606
Conflicting classifications of pathogenicity
Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3, localized or generalized intermediate
Health Risk
RS142650835
Conflicting classifications of pathogenicity
Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3, localized or generalized intermediate
Health Risk
RS143101723
Conflicting classifications of pathogenicity
Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3, localized or generalized intermediate
Health Risk
RS143924906
Conflicting classifications of pathogenicity
Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
Health Risk
All Variants (210)
RSID Category Clinical Significance Conditions
RS1824238311 Health Risk association Autism spectrum disorder, Autism spectrum disorder
RS1020828510 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
RS112473525 Health Risk Conflicting classifications of pathogenicity Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3, localized or generalized intermediate
RS112635185 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS116774070 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
RS1213338072 Health Risk Conflicting classifications of pathogenicity Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3, localized or generalized intermediate
RS138185589 Health Risk Conflicting classifications of pathogenicity Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3, localized or generalized intermediate
RS138553142 Health Risk Conflicting classifications of pathogenicity Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3, localized or generalized intermediate
RS141523606 Health Risk Conflicting classifications of pathogenicity Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3, localized or generalized intermediate
RS142650835 Health Risk Conflicting classifications of pathogenicity Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3, localized or generalized intermediate
RS143101723 Health Risk Conflicting classifications of pathogenicity Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3, localized or generalized intermediate
RS143924906 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
RS149342331 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
RS1554497505 Health Risk Conflicting classifications of pathogenicity Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3, localized or generalized intermediate
RS180765536 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
RS182262649 Health Risk Conflicting classifications of pathogenicity Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3, localized or generalized intermediate
RS186788522 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
RS191081991 Health Risk Conflicting classifications of pathogenicity Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3, localized or generalized intermediate
RS193252082 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
RS199628430 Health Risk Conflicting classifications of pathogenicity Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3, localized or generalized intermediate
RS200006386 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
RS200851382 Health Risk Conflicting classifications of pathogenicity Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3, localized or generalized intermediate
RS200855949 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
RS201138592 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
RS201249286 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
RS201346012 Health Risk Conflicting classifications of pathogenicity Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3, localized or generalized intermediate
RS201419873 Health Risk Conflicting classifications of pathogenicity Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3, localized or generalized intermediate
RS201437391 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
RS201758531 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
RS201891015 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
RS2098828864 Health Risk Conflicting classifications of pathogenicity Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3, localized or generalized intermediate
RS34767818 Health Risk Conflicting classifications of pathogenicity Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3, localized or generalized intermediate
RS35599167 Health Risk Conflicting classifications of pathogenicity Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3, localized or generalized intermediate
RS369194519 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
RS369218541 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
RS369417587 Health Risk Conflicting classifications of pathogenicity Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3, localized or generalized intermediate
RS370134977 Health Risk Conflicting classifications of pathogenicity Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3, localized or generalized intermediate
RS373258036 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
RS374134272 Health Risk Conflicting classifications of pathogenicity Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3, localized or generalized intermediate
RS374575683 Health Risk Conflicting classifications of pathogenicity Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3, localized or generalized intermediate
RS375258425 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
RS398122943 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
RS41267671 Health Risk Conflicting classifications of pathogenicity Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3, localized or generalized intermediate
RS45472691 Health Risk Conflicting classifications of pathogenicity Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3, localized or generalized intermediate
RS559604901 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3
RS753007435 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3
RS753950967 Health Risk Conflicting classifications of pathogenicity Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3, localized or generalized intermediate
RS760700573 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
RS763299839 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
RS763518239 Health Risk Conflicting classifications of pathogenicity Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3, localized or generalized intermediate
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