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
RS1057516995 Health Risk Conflicting classifications of pathogenicity Spongy degeneration of central nervous system, Canavan Disease, Familial Form
RS144321760 Health Risk Conflicting classifications of pathogenicity Spongy degeneration of central nervous system, Intellectual disability, Canavan Disease
RS1597438977 Health Risk Conflicting classifications of pathogenicity Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS199565861 Health Risk Conflicting classifications of pathogenicity Spongy degeneration of central nervous system, Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS2073520755 Health Risk Conflicting classifications of pathogenicity Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS2073632657 Health Risk Conflicting classifications of pathogenicity Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS2150764080 Health Risk Conflicting classifications of pathogenicity Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS377217076 Health Risk Conflicting classifications of pathogenicity Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS528179434 Health Risk Conflicting classifications of pathogenicity Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS574328488 Health Risk Conflicting classifications of pathogenicity Spongy degeneration of central nervous system, Inborn genetic diseases, Spongy degeneration of central nervous system
RS759106494 Health Risk Conflicting classifications of pathogenicity Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS773849106 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 3, Spongy degeneration of central nervous system, Inborn genetic diseases
RS1014551540 Health Risk Likely pathogenic Spongy degeneration of central nervous system, Canavan Disease, Familial Form
RS104894551 Health Risk Likely pathogenic Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS1057516309 Health Risk Likely pathogenic Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS1057516416 Health Risk Likely pathogenic Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS1057516498 Health Risk Likely pathogenic Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS1057517066 Health Risk Likely pathogenic Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS1057517260 Health Risk Likely pathogenic Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS1057517291 Health Risk Likely pathogenic Spongy degeneration of central nervous system, Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS1335267315 Health Risk Likely pathogenic Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS145085349 Health Risk Likely pathogenic —
RS1457802163 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS147763700 Health Risk Likely pathogenic Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS1480068143 Health Risk Likely pathogenic Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS148451498 Health Risk Likely pathogenic —
RS1555538144 Health Risk Likely pathogenic Spongy degeneration of central nervous system, Canavan Disease, Familial Form
RS1555538157 Health Risk Likely pathogenic Spongy degeneration of central nervous system, Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS1555539105 Health Risk Likely pathogenic Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS1555539857 Health Risk Likely pathogenic Spongy degeneration of central nervous system, Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS1555539897 Health Risk Likely pathogenic Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS1555539903 Health Risk Likely pathogenic Canavan Disease, Familial Form, Canavan Disease
RS1555540674 Health Risk Likely pathogenic Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS1555540679 Health Risk Likely pathogenic —
RS1555541278 Health Risk Likely pathogenic Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS1555541291 Health Risk Likely pathogenic Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS1567608718 Health Risk Likely pathogenic Spongy degeneration of central nervous system, Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS201887670 Health Risk Likely pathogenic Canavan Disease, Familial Form, Spongy degeneration of central nervous system
RS2073522549 Health Risk Likely pathogenic Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS2073958098 Health Risk Likely pathogenic Spongy degeneration of central nervous system, Canavan Disease, Familial Form
RS2150746934 Health Risk Likely pathogenic Spongy degeneration of central nervous system, Spongy degeneration of central nervous system, Canavan Disease
RS2150764241 Health Risk Likely pathogenic Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS2543619739 Health Risk Likely pathogenic Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS2543619809 Health Risk Likely pathogenic Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS2543619949 Health Risk Likely pathogenic Spongy degeneration of central nervous system, Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS2543624402 Health Risk Likely pathogenic Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS2543624471 Health Risk Likely pathogenic Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS2543624765 Health Risk Likely pathogenic Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS2543636035 Health Risk Likely pathogenic Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS2543647904 Health Risk Likely pathogenic Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
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