|(G;G)||0||common in clinvar|
|(G;T)||3||Miscall for 23andMe customers; otherwise: Unaffected carrier of a Smith-Lemli-Opitz syndrome mutation|
|(T;T)||9||Miscall for 23andMe customers; otherwise, Smith-Lemli-Opitz syndrome|
rs80338859, also known as c.976G>T, p.Val326Leu and V326L, represents a mutation in the DHCR7 gene on chromosome 11.
Inherited recessively, the rare rs80338859(T) mutation is perhaps one of the three most common leading to Smith-Lemli-Opitz syndrome, a metabolic syndrome of multiple congenital malformations. This mutation may be a founder mutation associated originally primarily with Polish and German/Austrian populations.
Note to 23andMe customers: based on feedback from Promethease users, we believe that this SNP is prone to being miscalled in your data files as produced by 23andMe.
|CLNSRC||OMIM Allelic Variant UniProtKB (protein)|
[PMID 9653161] Mutations in the Delta7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndrome.
[PMID 10814720] Spectrum of Delta(7)-dehydrocholesterol reductase mutations in patients with the Smith-Lemli-Opitz (RSH) syndrome.
[PMID 11175299] Frequency gradients of DHCR7 mutations in patients with Smith-Lemli-Opitz syndrome in Europe: evidence for different origins of common mutations.
[PMID 15521979] DHCR7 mutations and genotype-phenotype correlation in 37 Polish patients with Smith-Lemli-Opitz syndrome.
[PMID 16207203] Recent insights into the Smith-Lemli-Opitz syndrome.