Variant: rs147394623 

    present in Gene: DHDDS
    present in Chromosome: 1
    Position on Chromosome: 26438228
    Alleles of this Variant: A/G

rs147394623 in DHDDS gene and RETINITIS PIGMENTOSA 59 PMID 21295283 2011 Whole-exome sequencing links a variant in DHDDS to retinitis pigmentosa.

PMID 22110072 2011 Autosomal recessive retinitis pigmentosa caused by mutations in the MAK gene.

PMID 24664694 2014 Mutation K42E in dehydrodolichol diphosphate synthase (DHDDS) causes recessive retinitis pigmentosa.

PMID 28130426 2017 Genetic analysis of 10 pedigrees with inherited retinal degeneration by exome sequencing and phenotype-genotype association.

PMID 25066056 2014 Mutation of Nogo-B receptor, a subunit of cis-prenyltransferase, causes a congenital disorder of glycosylation.

PMID 21295282 2011 A missense mutation in DHDDS, encoding dehydrodolichyl diphosphate synthase, is associated with autosomal-recessive retinitis pigmentosa in Ashkenazi Jews.

PMID 27343064 2016 A case of fatal Type I congenital disorders of glycosylation (CDG I) associated with low dehydrodolichol diphosphate synthase (DHDDS) activity.

rs147394623 in DHDDS gene and Retinitis Pigmentosa PMID 21295282 2011 Clinical manifestations of patients who are homozygous for the c.124A>G mutation were within the spectrum associated with arRP.

PMID 24078709 2013 We observed a characteristic shortening of plasma and urinary dolichols in retinitis pigmentosa (RP) patients carrying K42E and T206A mutations in the dehydrodolichol diphosphate synthase (DHDDS) gene, using liquid chromatography-mass spectrometry.

PMID 26261414 2015 Nonsyndromic retinitis pigmentosa is highly prevalent in the Jerusalem region with a high frequency of founder mutations.

PMID 29276052 2018 Nonsyndromic Retinitis Pigmentosa in the Ashkenazi Jewish Population: Genetic and Clinical Aspects.

PMID 21295283 2011 Whole-exome sequencing links a variant in DHDDS to retinitis pigmentosa.

PMID 25255364 2015 We screened 275 North American patients with recessive/isolate retinitis pigmentosa for two mutations: an Alu insertion in the MAK gene and the p.Lys42Glu missense in the DHDDS gene.