|| common in clinvar
|| carrier of one pseudoarylsulfatase A deficiency allele
|| pseudoarylsulfatase A deficiency (possible)
rs6151429, also known as c.*96A>G, is a relatively common mutation (up to 5% or so of individuals carry the G/G genotype) in the polyadenylation signal of the ARSA gene on chromosome 22. The minor allele, rs6151429(G), may lead to lower ARSA enzymatic activity, and when two copies are inherited, to pseudoarylsulfatase A deficiency. However, sufficient functional enzyme is usually present to avoid sulfatide accumulation, so this does not cause metachromatic leukodystrophy (MLD).
For more information, recommended sources include Gene Reviews and OMIM 607574.0001.
This SNP is referred to as i6007566 by 23andMe.
|?|| (A;A) (A;G) (G;G) ||28|
[PMID 18454203] Differential allelic expression in the human genome: a robust approach to identify genetic and epigenetic cis-acting mechanisms regulating gene expression.
[PMID 24896259] Genome at Juncture of Early Human Migration: A Systematic Analysis of Two Whole Genomes and Thirteen Exomes from Kuwaiti Population Subgroup of Inferred Saudi Arabian Tribe Ancestry