Variant: rs104894548 

    present in Gene: SPATA22;ASPA
    present in Chromosome: 17
    Position on Chromosome: 3483520
    Alleles of this Variant: T/C

rs104894548 in SPATA22;ASPA gene and Canavan Disease PMID 8659549 1996 Identification and expression of eight novel mutations among non-Jewish patients with Canavan disease.

PMID 8252036 1993 Cloning of the human aspartoacylase cDNA and a common missense mutation in Canavan disease.

PMID 8023850 1994 Canavan disease: mutations among Jewish and non-Jewish patients.

PMID 10564886 1999 Novel missense mutation (Y231C) in a turkish patient with canavan disease.

PMID 10909858 2000 Mutation detection in the aspartoacylase gene in 17 patients with Canavan disease: four new mutations in the non-Jewish population.

PMID 9452117 1998 Missense mutation (I143T) in a Japanese patient with Canavan disease.

PMID 12205125 2002 Two novel aspartoacylase gene (ASPA) missense mutations specific to Norwegian and Swedish patients with Canavan disease.

PMID 18197057 2008 Carrier screening in individuals of Ashkenazi Jewish descent.

PMID 10407784 1999 The spectrum of mutations of the aspartoacylase gene in Canavan disease in non-Jewish patients.

PMID 12638939 2002 Identification and characterization of novel mutations of the aspartoacylase gene in non-Jewish patients with Canavan disease.

PMID 7599639 1995 Novel (cys152 > arg) missense mutation in an Arab patient with Canavan disease.

PMID 24036223 2013 New T530C mutation in the aspartoacylase gene caused Canavan disease with no correlation between severity and N-acetylaspartate excretion.

PMID 19888064 2009 ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent.

PMID 28101991 2017 Clinically Distinct Phenotypes of Canavan Disease Correlate with Residual Aspartoacylase Enzyme Activity.

PMID 7668285 1995 The molecular basis of canavan (aspartoacylase deficiency) disease in European non-Jewish patients.

PMID 12706335 2003 Purification and preliminary characterization of brain aspartoacylase.