ASPA Chromosome 17

Aspartoacylase
139 variants 139 Health Risk

Upload your DNA to see your personal genotypes for variants in ASPA.

What This Gene Does
This gene encodes an enzyme that catalyzes the conversion of N-acetyl_L-aspartic acid (NAA) to aspartate and acetate. NAA is abundant in the brain where hydrolysis by aspartoacylase is thought to help maintain white matter. This protein is an NAA scavenger in other tissues. Mutations in this gene cause Canavan disease. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008]
Associated Conditions (10)
Spongy degeneration of central nervous system
Canavan Disease
Familial Form
Intellectual disability
Inborn genetic diseases
Fraser syndrome 3
ASPA-related disorder
Autism
Mild Canavan disease
Abnormality of metabolism/homeostasis
Key Variants
RS1057516995
Conflicting classifications of pathogenicity
Spongy degeneration of central nervous system, Canavan Disease, Familial Form
Health Risk
RS144321760
Conflicting classifications of pathogenicity
Spongy degeneration of central nervous system, Intellectual disability, Canavan Disease
Health Risk
RS1597438977
Conflicting classifications of pathogenicity
Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
Health Risk
RS199565861
Conflicting classifications of pathogenicity
Spongy degeneration of central nervous system, Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
Health Risk
RS2073520755
Conflicting classifications of pathogenicity
Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
Health Risk
RS2073632657
Conflicting classifications of pathogenicity
Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
Health Risk
RS2150764080
Conflicting classifications of pathogenicity
Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
Health Risk
RS377217076
Conflicting classifications of pathogenicity
Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
Health Risk
RS528179434
Conflicting classifications of pathogenicity
Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
Health Risk
RS574328488
Conflicting classifications of pathogenicity
Spongy degeneration of central nervous system, Inborn genetic diseases, Spongy degeneration of central nervous system
Health Risk
RS759106494
Conflicting classifications of pathogenicity
Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
Health Risk
RS773849106
Conflicting classifications of pathogenicity
Fraser syndrome 3, Spongy degeneration of central nervous system, Inborn genetic diseases
Health Risk
All Variants (139)
RSID Category Clinical Significance Conditions
RS2543658121 Health Risk Likely pathogenic Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS2543658129 Health Risk Likely pathogenic Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS2543658229 Health Risk Likely pathogenic Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS2543658239 Health Risk Likely pathogenic Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS745832703 Health Risk Likely pathogenic Spongy degeneration of central nervous system, Canavan Disease, Familial Form
RS747438350 Health Risk Likely pathogenic Spongy degeneration of central nervous system, Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS754087904 Health Risk Likely pathogenic Spongy degeneration of central nervous system, Canavan Disease, Familial Form
RS757607501 Health Risk Likely pathogenic Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS773049803 Health Risk Likely pathogenic Canavan Disease, Familial Form, Spongy degeneration of central nervous system
RS777936704 Health Risk Likely pathogenic Spongy degeneration of central nervous system, Canavan Disease, Familial Form
RS778203652 Health Risk Likely pathogenic Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS778385612 Health Risk Likely pathogenic Spongy degeneration of central nervous system, Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS104894549 Health Risk Pathogenic Spongy degeneration of central nervous system, Canavan Disease, Familial Form
RS104894550 Health Risk Pathogenic Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS1057516315 Health Risk Pathogenic Spongy degeneration of central nervous system, Canavan Disease, Familial Form
RS1057517085 Health Risk Pathogenic Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS1192320601 Health Risk Pathogenic Spongy degeneration of central nervous system, Inborn genetic diseases, Spongy degeneration of central nervous system
RS1209227358 Health Risk Pathogenic Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS12948217 Health Risk Pathogenic Spongy degeneration of central nervous system, Canavan Disease, Familial Form
RS1380839164 Health Risk Pathogenic Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS1470172490 Health Risk Pathogenic Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS1483554951 Health Risk Pathogenic Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS1555538825 Health Risk Pathogenic Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS1555541304 Health Risk Pathogenic Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS1597439028 Health Risk Pathogenic Spongy degeneration of central nervous system, Inborn genetic diseases, Spongy degeneration of central nervous system
RS2073629527 Health Risk Pathogenic Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS2073633067 Health Risk Pathogenic Inborn genetic diseases, Spongy degeneration of central nervous system, Inborn genetic diseases
RS2073779014 Health Risk Pathogenic Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS2150741648 Health Risk Pathogenic Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS2150741666 Health Risk Pathogenic Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS2150741788 Health Risk Pathogenic Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS2150741916 Health Risk Pathogenic Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS2150746796 Health Risk Pathogenic Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS2150764223 Health Risk Pathogenic Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS2543606240 Health Risk Pathogenic Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS2543606313 Health Risk Pathogenic Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS2543606372 Health Risk Pathogenic Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS2543606575 Health Risk Pathogenic Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS2543606652 Health Risk Pathogenic Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS2543606824 Health Risk Pathogenic Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS2543619403 Health Risk Pathogenic Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS2543619589 Health Risk Pathogenic Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS2543619675 Health Risk Pathogenic Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS2543624299 Health Risk Pathogenic Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS2543636027 Health Risk Pathogenic Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS2543636229 Health Risk Pathogenic Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS2543647908 Health Risk Pathogenic Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS2543648257 Health Risk Pathogenic Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS28940574 Health Risk Pathogenic Spongy degeneration of central nervous system, Canavan Disease, Familial Form
RS375736464 Health Risk Pathogenic Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
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