present in Gene: ASPA;SPATA22
present in Chromosome: 17
Position on Chromosome: 3489247
Alleles of this Variant: G/T
rs1014551540 in
ASPA;SPATA22 gene and
Canavan Disease
PMID 19888064 2009 ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent.
PMID 18197057 2008 Carrier screening in individuals of Ashkenazi Jewish descent.