DHDDS Chromosome 1
Dehydrodolichyl diphosphate synthase subunit
Upload your DNA to see your personal genotypes for variants in DHDDS.
What This Gene Does
The protein encoded by this gene catalyzes cis-prenyl chain elongation to produce the polyprenyl backbone of dolichol, a glycosyl carrier lipid required for the biosynthesis of several classes of glycoproteins. Mutations in this gene are associated with retinitis pigmentosa type 59. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]
Gene Info
Gene Group
Dehydrodolichyl diphosphate synthase
Locus Type
gene with protein product
Location
1p36.11
Ensembl
ENSG00000117682
Associated Conditions (8)
Retinitis pigmentosa 59
Developmental delay and seizures with or without movement abnormalities
Retinitis pigmentosa
Inborn genetic diseases
Retinal dystrophy
DHDDS-related disorder
Congenital disorder of glycosylation
type Ibb
Key Variants
RS1180408059
Conflicting classifications of pathogenicity
Retinitis pigmentosa 59, Developmental delay and seizures with or without movement abnormalities, Retinitis pigmentosa 59
Health Risk
RS141852437
Conflicting classifications of pathogenicity
Retinitis pigmentosa 59, Retinitis pigmentosa, Inborn genetic diseases
Health Risk
RS1462542158
Conflicting classifications of pathogenicity
Developmental delay and seizures with or without movement abnormalities, Retinitis pigmentosa 59, Developmental delay and seizures with or without movement abnormalities
Health Risk
RS146706631
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinitis pigmentosa
Health Risk
RS149948788
Conflicting classifications of pathogenicity
Retinitis pigmentosa 59, Retinitis pigmentosa 59
Health Risk
RS149949619
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinitis pigmentosa 59, Retinitis pigmentosa
Health Risk
RS2124374558
Conflicting classifications of pathogenicity
Retinitis pigmentosa 59, Developmental delay and seizures with or without movement abnormalities, Retinitis pigmentosa 59
Health Risk
RS2524517535
Conflicting classifications of pathogenicity
Retinitis pigmentosa 59, Retinitis pigmentosa 59
Health Risk
RS376517028
Conflicting classifications of pathogenicity
Retinitis pigmentosa 59, Retinitis pigmentosa 59
Health Risk
RS748833924
Conflicting classifications of pathogenicity
Retinitis pigmentosa 59, Inborn genetic diseases, Retinal dystrophy
Health Risk
RS754564043
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinitis pigmentosa 59, Developmental delay and seizures with or without movement abnormalities
Health Risk
RS756507508
Conflicting classifications of pathogenicity
Retinitis pigmentosa 59, Retinitis pigmentosa 59
Health Risk
All Variants (49)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1180408059 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa 59, Developmental delay and seizures with or without movement abnormalities, Retinitis pigmentosa 59 |
| RS141852437 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa 59, Retinitis pigmentosa, Inborn genetic diseases |
| RS1462542158 | Health Risk | Conflicting classifications of pathogenicity | Developmental delay and seizures with or without movement abnormalities, Retinitis pigmentosa 59, Developmental delay and seizures with or without movement abnormalities |
| RS146706631 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinitis pigmentosa |
| RS149948788 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa 59, Retinitis pigmentosa 59 |
| RS149949619 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinitis pigmentosa 59, Retinitis pigmentosa |
| RS2124374558 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa 59, Developmental delay and seizures with or without movement abnormalities, Retinitis pigmentosa 59 |
| RS2524517535 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa 59, Retinitis pigmentosa 59 |
| RS376517028 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa 59, Retinitis pigmentosa 59 |
| RS748833924 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa 59, Inborn genetic diseases, Retinal dystrophy |
| RS754564043 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinitis pigmentosa 59, Developmental delay and seizures with or without movement abnormalities |
| RS756507508 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa 59, Retinitis pigmentosa 59 |
| RS768075911 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinitis pigmentosa 59, Retinitis pigmentosa |
| RS773902080 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinitis pigmentosa 59, Retinitis pigmentosa |
| RS774001400 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa 59, Retinitis pigmentosa 59 |
| RS778103040 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa 59, Retinitis pigmentosa 59 |
| RS794727876 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa 59, Retinitis pigmentosa 59 |
| RS928446379 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinitis pigmentosa 59, Retinitis pigmentosa |
| RS1248671884 | Health Risk | Likely pathogenic | Retinitis pigmentosa 59, Developmental delay and seizures with or without movement abnormalities, Retinitis pigmentosa 59 |
| RS1271715523 | Health Risk | Likely pathogenic | — |
| RS1298424547 | Health Risk | Likely pathogenic | Retinitis pigmentosa 59, Retinitis pigmentosa 59 |
| RS1314876691 | Health Risk | Likely pathogenic | Retinitis pigmentosa 59, Retinitis pigmentosa 59 |
| RS2124374907 | Health Risk | Likely pathogenic | — |
| RS2124489724 | Health Risk | Likely pathogenic | Retinitis pigmentosa, Retinitis pigmentosa 59, Retinitis pigmentosa |
| RS2524554332 | Health Risk | Likely pathogenic | Retinitis pigmentosa 59, Retinitis pigmentosa 59 |
| RS2524685601 | Health Risk | Likely pathogenic | Retinitis pigmentosa 59, Retinitis pigmentosa 59 |
| RS2524687222 | Health Risk | Likely pathogenic | DHDDS-related disorder, DHDDS-related disorder |
| RS2524687283 | Health Risk | Likely pathogenic | Retinitis pigmentosa 59, Retinitis pigmentosa 59 |
| RS2524687386 | Health Risk | Likely pathogenic | Retinitis pigmentosa 59, Retinitis pigmentosa 59 |
| RS2524707695 | Health Risk | Likely pathogenic | Retinitis pigmentosa 59, Developmental delay and seizures with or without movement abnormalities, Retinitis pigmentosa 59 |
| RS2524708485 | Health Risk | Likely pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS764831063 | Health Risk | Likely pathogenic | Congenital disorder of glycosylation, type Ibb, Retinitis pigmentosa 59 |
| RS922956992 | Health Risk | Likely pathogenic | Retinitis pigmentosa 59, Retinitis pigmentosa 59 |
| RS1272594778 | Health Risk | Pathogenic | Retinitis pigmentosa 59, Retinitis pigmentosa 59 |
| RS147394623 | Health Risk | Pathogenic | Retinitis pigmentosa 59, Developmental delay and seizures with or without movement abnormalities, Retinitis pigmentosa |
| RS1553121072 | Health Risk | Pathogenic | Retinitis pigmentosa 59, Retinitis pigmentosa 59, Developmental delay and seizures with or without movement abnormalities |
| RS1553121545 | Health Risk | Pathogenic | Congenital disorder of glycosylation, type Ibb, Congenital disorder of glycosylation |
| RS1553122926 | Health Risk | Pathogenic | Developmental delay and seizures with or without movement abnormalities, Retinitis pigmentosa 59, Developmental delay and seizures with or without movement abnormalities |
| RS1557447255 | Health Risk | Pathogenic | Retinitis pigmentosa 59, Developmental delay and seizures with or without movement abnormalities, Retinitis pigmentosa 59 |
| RS2075181080 | Health Risk | Pathogenic | Retinitis pigmentosa 59, Retinitis pigmentosa 59 |
| RS2124425894 | Health Risk | Pathogenic | Retinitis pigmentosa 59, Retinitis pigmentosa 59 |
| RS2124433466 | Health Risk | Pathogenic | Retinitis pigmentosa 59, Retinitis pigmentosa 59 |
| RS2124501559 | Health Risk | Pathogenic | Retinitis pigmentosa 59, Retinitis pigmentosa 59 |
| RS2524708025 | Health Risk | Pathogenic | Developmental delay and seizures with or without movement abnormalities, Retinitis pigmentosa 59, Developmental delay and seizures with or without movement abnormalities |
| RS1553121073 | Health Risk | Pathogenic/Likely pathogenic | Developmental delay and seizures with or without movement abnormalities, Retinitis pigmentosa 59, Developmental delay and seizures with or without movement abnormalities |
| RS1570332505 | Health Risk | Pathogenic/Likely pathogenic | Developmental delay and seizures with or without movement abnormalities, Inborn genetic diseases, Developmental delay and seizures with or without movement abnormalities |
| RS2075181154 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Retinitis pigmentosa 59, Inborn genetic diseases |
| RS2075282065 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa 59, Retinitis pigmentosa 59 |
| RS2524516472 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa 59, Retinitis pigmentosa 59 |