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Mucolipidosis type IV

From SNPedia

Mucolipidosis type IV Wikipedia is a rare but severe inherited lysosomal storage disease that is more common among Ashkenazi Jews than in other populations. About 1 in 100 individuals in this ethnic group is a carrier. Only a child who inherits two mutated copies of the mucolipin-1 (MCOLN1) gene will develop the disease; carriers are not affected. Children with this disorder are usually severely developmentally delayed.

The rs identifier in dbSNP for the most common mutation causing mucolipidosis type IV in Ashkenazi Jews, IVS3-2A>G (OMIM 605248.0001) is now assigned as rs104886461.

23andMe tests for this variation using its own terminology, specifically i4000425 (risk genotype G;G; carrier genotype A;G).