Variant: rs12948217 

    present in Gene: SPATA22;ASPA
    present in Chromosome: 17
    Position on Chromosome: 3494408
    Alleles of this Variant: C/A;T

rs12948217 in SPATA22;ASPA gene and 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 8023850 1994 Canavan disease: mutations among Jewish and non-Jewish patients.

PMID 8659549 1996 Identification and expression of eight novel mutations among non-Jewish patients with Canavan disease.

rs12948217 in SPATA22;ASPA gene and Canavan Disease, Familial Form PMID 10909858 2000 Mutation detection in the aspartoacylase gene in 17 patients with Canavan disease: four new mutations in the non-Jewish population.

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

PMID 11238686 2001 A partial deletion of the aspartoacylase gene is the cause of Canavan disease in a family from Mexico.

PMID 23253610 2012 Long-term follow-up after gene therapy for canavan disease.

PMID 8659549 1996 Identification and expression of eight novel mutations among non-Jewish patients with Canavan disease.