|| common in complete genomics
|| Unaffected carrier of Gaucher disease variant
|| Gaucher disease
represents a rare variation in the acid beta-glucocerebrosidase (GBA
) gene. Gaucher's disease
is an autosomal recessive lysosomal storage disorder due to deficient activity of beta-glucocerebrosidase, and over 200 mutations have been described in the GBA gene, many of which lead to Gaucher Type I or Type II disease.
The mutation encoded by rs104886460 is one of the top 5 or so Gaucher-related variations found in Ashkenazi Jews, and is known as "IVS2+1G-A". It is most commonly associated with Gaucher Type I disease but has also been seen associated with Type II disease, apparently depending on the nature of the "other" GBA mutation found in an individual (since it's a recessive condition requiring both alleles to be affected).
See also: OMIM 606463.0015