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rs80338859

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(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
ReferenceGRCh38 38.1/141
Chromosome11
Position71435827
GeneDHCR7
is asnp
is mentioned by
dbSNPrs80338859
ebirs80338859
HLIrs80338859
Exacrs80338859
Varsomers80338859
Maprs80338859
PheGenIrs80338859
hapmaprs80338859
1000 genomesrs80338859
hgdprs80338859
ensemblrs80338859
gopubmedrs80338859
geneviewrs80338859
scholarrs80338859
googlers80338859
pharmgkbrs80338859
gwascentralrs80338859
openSNPrs80338859
23andMers80338859
23andMe allrs80338859
SNP Nexus

SNPshotrs80338859
SNPdbers80338859
MSV3drs80338859
GWAS Ctlgrs80338859
Max Magnitude9

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.

OMIM602858
Desc
Variant0011
Relatedalso
ClinVar
Risk rs80338859(T;T)
Alt rs80338859(T;T)
Reference rs80338859(G;G)
Significance Pathogenic
Disease Smith-Lemli-Opitz syndrome
Variation info
Gene DHCR7
CLNDBN Smith-Lemli-Opitz syndrome
Reversed 1
HGVS NC_000011.9:g.71146873C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000007187.3,


[PMID 9653161OA-icon.png] 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 16207203OA-icon.png] Recent insights into the Smith-Lemli-Opitz syndrome.