DHDDS (dehydrodolichyl diphosphate synthase subunit) - Rat Genome Database

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Gene: DHDDS (dehydrodolichyl diphosphate synthase subunit) Homo sapiens
Analyze
Symbol: DHDDS
Name: dehydrodolichyl diphosphate synthase subunit
RGD ID: 1323083
HGNC Page HGNC
Description: Enables dehydrodolichyl diphosphate synthase activity. Contributes to polyprenyltransferase activity. Involved in dolichyl diphosphate biosynthetic process. Part of dehydrodolichyl diphosphate synthase complex. Implicated in developmental delay and seizures with or without movement abnormalities and retinitis pigmentosa 59.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: cis-IPTase; cis-isoprenyltransferase; cis-prenyl transferase; cis-prenyltransferase subunit hCIT; CIT; CPT; dedol-PP synthase; DEDSM; dehydrodolichyl diphosphate syntase complex subunit DHDDS; dehydrodolichyl diphosphate synthase complex subunit DHDDS; DS; epididymis tissue protein Li 189m; FLJ13102; hCIT; HDS; RP59
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38126,432,321 - 26,471,306 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl126,432,282 - 26,471,306 (+)EnsemblGRCh38hg38GRCh38
GRCh37126,758,812 - 26,797,797 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36126,631,389 - 26,670,384 (+)NCBINCBI36hg18NCBI36
Celera125,156,022 - 25,195,012 (+)NCBI
Cytogenetic Map1p36.11NCBI
HuRef125,013,115 - 25,052,137 (+)NCBIHuRef
CHM1_1126,871,776 - 26,910,801 (+)NCBICHM1_1
T2T-CHM13v2.0126,270,336 - 26,309,325 (+)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal corpus callosum morphology  (IAGP)
Abnormal electroretinogram  (IAGP)
Abnormal myelination  (IAGP)
Abnormal retinal vascular morphology  (IAGP)
Abnormal testis morphology  (IAGP)
Abnormality of retinal pigmentation  (IAGP)
Abnormality of vision  (IAGP)
Anteverted nares  (IAGP)
Ataxia  (IAGP)
Attention deficit hyperactivity disorder  (IAGP)
Atypical scarring of skin  (IAGP)
Autism  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
Axial hypotonia  (IAGP)
Bilateral tonic-clonic seizure  (IAGP)
Blindness  (IAGP)
Bradykinesia  (IAGP)
Cataract  (IAGP)
Cerebral atrophy  (IAGP)
Chiari type I malformation  (IAGP)
Conductive hearing impairment  (IAGP)
Cryptorchidism  (IAGP)
Cystoid macular edema  (IAGP)
Decreased fetal movement  (IAGP)
Delayed speech and language development  (IAGP)
Developmental regression  (IAGP)
Difficulty walking  (IAGP)
Downslanted palpebral fissures  (IAGP)
Dyskinesia  (IAGP)
Dystonia  (IAGP)
EEG abnormality  (IAGP)
EEG with multifocal slow activity  (IAGP)
Elevated hepatic transaminase  (IAGP)
Encephalopathy  (IAGP)
Epileptic encephalopathy  (IAGP)
Failure to thrive  (IAGP)
Feeding difficulties  (IAGP)
Gastroesophageal reflux  (IAGP)
Generalized hypotonia  (IAGP)
Generalized myoclonic seizure  (IAGP)
Glaucoma  (IAGP)
Global developmental delay  (IAGP)
Hepatomegaly  (IAGP)
High forehead  (IAGP)
Hyperinsulinemia  (IAGP)
Hyperreflexia  (IAGP)
Hypodontia  (IAGP)
Hypogonadism  (IAGP)
Hypoplasia of penis  (IAGP)
Hyporeflexia  (IAGP)
Hypsarrhythmia  (IAGP)
Impulsivity  (IAGP)
Intellectual disability  (IAGP)
Intrauterine growth retardation  (IAGP)
Keratoconus  (IAGP)
Limb hypertonia  (IAGP)
Mental deterioration  (IAGP)
Microcephaly  (IAGP)
Micropenis  (IAGP)
Myoclonic absence seizure  (IAGP)
Myoclonus  (IAGP)
Nystagmus  (IAGP)
Obesity  (IAGP)
Ophthalmoplegia  (IAGP)
Optic atrophy  (IAGP)
Photophobia  (IAGP)
Poor head control  (IAGP)
Progressive night blindness  (IAGP)
Ptosis  (IAGP)
Renal insufficiency  (IAGP)
Retinal degeneration  (IAGP)
Rigidity  (IAGP)
Rod-cone dystrophy  (IAGP)
Seizure  (IAGP)
Sensorineural hearing impairment  (IAGP)
Short stature  (IAGP)
Spasticity  (IAGP)
Status epilepticus  (IAGP)
Tremor  (IAGP)
Type II diabetes mellitus  (IAGP)
Unsteady gait  (IAGP)
Variable expressivity  (IAGP)
Wide nasal bridge  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
2. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
5. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:12477932   PMID:12591616   PMID:14652022   PMID:14702039   PMID:15110773   PMID:15489334   PMID:15850770   PMID:16344560   PMID:20301507   PMID:20301590   PMID:20379614   PMID:20736409  
PMID:21295282   PMID:21295283   PMID:21873635   PMID:24664694   PMID:25066056   PMID:25255364   PMID:26186194   PMID:27343064   PMID:28514442   PMID:28842490   PMID:29276052   PMID:31006538  
PMID:31661879   PMID:32129710   PMID:32178630   PMID:32694731   PMID:32817466   PMID:33077723   PMID:33961781   PMID:34275143   PMID:34373451  


Genomics

Comparative Map Data
DHDDS
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38126,432,321 - 26,471,306 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl126,432,282 - 26,471,306 (+)EnsemblGRCh38hg38GRCh38
GRCh37126,758,812 - 26,797,797 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36126,631,389 - 26,670,384 (+)NCBINCBI36hg18NCBI36
Celera125,156,022 - 25,195,012 (+)NCBI
Cytogenetic Map1p36.11NCBI
HuRef125,013,115 - 25,052,137 (+)NCBIHuRef
CHM1_1126,871,776 - 26,910,801 (+)NCBICHM1_1
T2T-CHM13v2.0126,270,336 - 26,309,325 (+)NCBI
Dhdds
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm394133,696,339 - 133,728,267 (-)NCBIGRCm39mm39
GRCm39 Ensembl4133,696,339 - 133,728,229 (-)Ensembl
GRCm384133,969,028 - 134,000,957 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl4133,969,028 - 134,000,918 (-)EnsemblGRCm38mm10GRCm38
MGSCv374133,524,972 - 133,556,779 (-)NCBIGRCm37mm9NCBIm37
MGSCv364133,241,133 - 133,272,940 (-)NCBImm8
Celera4132,146,630 - 132,178,261 (-)NCBICelera
Cytogenetic Map4D2.3NCBI
Dhdds
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.25146,198,359 - 146,224,479 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl5146,197,457 - 146,224,454 (-)Ensembl
Rnor_6.05152,200,681 - 152,227,669 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl5152,199,584 - 152,227,677 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.05155,883,727 - 155,912,613 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.45152,718,305 - 152,744,637 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.15152,728,344 - 152,754,676 (-)NCBI
Celera5144,618,491 - 144,644,445 (-)NCBICelera
Cytogenetic Map5q36NCBI
Dhdds
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554525,811,053 - 5,845,580 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554525,811,053 - 5,844,992 (+)NCBIChiLan1.0ChiLan1.0
DHDDS
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1126,760,535 - 26,799,049 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl126,760,535 - 26,799,049 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0125,696,229 - 25,735,319 (+)NCBIMhudiblu_PPA_v0panPan3
DHDDS
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1273,583,927 - 73,611,321 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl273,579,042 - 73,610,696 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha270,160,646 - 70,188,038 (-)NCBI
ROS_Cfam_1.0274,147,069 - 74,174,473 (-)NCBI
ROS_Cfam_1.0 Ensembl274,139,249 - 74,174,423 (-)Ensembl
UMICH_Zoey_3.1270,971,885 - 70,999,280 (-)NCBI
UNSW_CanFamBas_1.0271,977,633 - 72,005,016 (-)NCBI
UU_Cfam_GSD_1.0272,981,081 - 73,008,503 (-)NCBI
Dhdds
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440505845,088,890 - 45,124,356 (+)NCBI
SpeTri2.0NW_00493647410,914,018 - 10,949,138 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
DHDDS
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl683,823,243 - 83,861,907 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1683,823,262 - 83,855,101 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2677,344,573 - 77,354,066 (-)NCBISscrofa10.2Sscrofa10.2susScr3
DHDDS
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.120106,294,072 - 106,336,925 (-)NCBIChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366603310,086,956 - 10,135,320 (+)NCBIVero_WHO_p1.0
Dhdds
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462476410,443,644 - 10,476,240 (+)EnsemblHetGla_female_1.0hetGla2
HetGla 1.0NW_00462476410,443,712 - 10,476,240 (+)NCBIHetGla_female_1.0hetGla2

Position Markers
GDB:549187  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37126,796,754 - 26,796,970UniSTSGRCh37
Build 36126,669,341 - 26,669,557RGDNCBI36
Celera125,193,969 - 25,194,185RGD
Cytogenetic Map1p36.11UniSTS
HuRef125,051,094 - 25,051,310UniSTS
SHGC-110517  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37126,794,007 - 26,794,300UniSTSGRCh37
Build 36126,666,594 - 26,666,887RGDNCBI36
Celera125,191,222 - 25,191,515RGD
Cytogenetic Map1p36.11UniSTS
HuRef125,048,347 - 25,048,640UniSTS
TNG Radiation Hybrid Map111204.0UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:9364
Count of miRNA genes:1283
Interacting mature miRNAs:1695
Transcripts:ENST00000236342, ENST00000360009, ENST00000374185, ENST00000374186, ENST00000416052, ENST00000427245, ENST00000430232, ENST00000431933, ENST00000434391, ENST00000436153, ENST00000487944, ENST00000525165, ENST00000525326, ENST00000525410, ENST00000525546, ENST00000525682, ENST00000526219, ENST00000526278, ENST00000527611, ENST00000528557, ENST00000529688, ENST00000530781, ENST00000531312, ENST00000531955, ENST00000533087
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2193 1460 1358 299 1157 140 3581 930 2360 350 1388 1478 171 1172 2019 3 2
Low 246 1525 368 325 788 325 775 1267 1374 69 72 135 4 1 32 769 3
Below cutoff 6 6

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_029786 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001243564 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001243565 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001319959 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_024887 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_205861 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047430849 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047430850 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047430851 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047430852 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047430853 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047430854 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047430856 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047430857 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047430859 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047430860 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047430861 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047430862 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047430863 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047430864 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047430865 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB090852 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK023164 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297134 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK308187 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK316485 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL513365 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW294595 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC003643 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC004117 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC034152 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ028814 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX648507 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471059 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA756178 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FB335092 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FB335138 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GU727641 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HH766431 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HH766477 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000236342   ⟹   ENSP00000236342
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl126,432,321 - 26,471,306 (+)Ensembl
RefSeq Acc Id: ENST00000360009   ⟹   ENSP00000353104
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl126,432,355 - 26,471,294 (+)Ensembl
RefSeq Acc Id: ENST00000374185   ⟹   ENSP00000363300
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl126,432,342 - 26,448,176 (+)Ensembl
RefSeq Acc Id: ENST00000374186
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl126,432,329 - 26,443,080 (+)Ensembl
RefSeq Acc Id: ENST00000416052   ⟹   ENSP00000393961
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl126,446,364 - 26,467,527 (+)Ensembl
RefSeq Acc Id: ENST00000427245   ⟹   ENSP00000399177
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl126,432,316 - 26,448,565 (+)Ensembl
RefSeq Acc Id: ENST00000430232   ⟹   ENSP00000397584
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl126,432,891 - 26,460,144 (+)Ensembl
RefSeq Acc Id: ENST00000431933   ⟹   ENSP00000399781
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl126,442,836 - 26,471,294 (+)Ensembl
RefSeq Acc Id: ENST00000434391   ⟹   ENSP00000403529
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl126,432,282 - 26,471,294 (+)Ensembl
RefSeq Acc Id: ENST00000436153   ⟹   ENSP00000405604
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl126,432,390 - 26,447,639 (+)Ensembl
RefSeq Acc Id: ENST00000487944
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl126,432,345 - 26,438,734 (+)Ensembl
RefSeq Acc Id: ENST00000525165   ⟹   ENSP00000434185
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl126,432,368 - 26,446,359 (+)Ensembl
RefSeq Acc Id: ENST00000525326   ⟹   ENSP00000431407
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl126,432,371 - 26,442,763 (+)Ensembl
RefSeq Acc Id: ENST00000525410
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl126,432,778 - 26,446,396 (+)Ensembl
RefSeq Acc Id: ENST00000525546   ⟹   ENSP00000433976
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl126,432,371 - 26,442,805 (+)Ensembl
RefSeq Acc Id: ENST00000525682   ⟹   ENSP00000434984
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl126,432,339 - 26,469,373 (+)Ensembl
RefSeq Acc Id: ENST00000526219   ⟹   ENSP00000434219
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl126,432,340 - 26,469,226 (+)Ensembl
RefSeq Acc Id: ENST00000526278
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl126,432,386 - 26,446,432 (+)Ensembl
RefSeq Acc Id: ENST00000527611
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl126,432,323 - 26,433,133 (+)Ensembl
RefSeq Acc Id: ENST00000528557
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl126,432,371 - 26,442,889 (+)Ensembl
RefSeq Acc Id: ENST00000529688
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl126,432,398 - 26,446,382 (+)Ensembl
RefSeq Acc Id: ENST00000530781   ⟹   ENSP00000433491
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl126,432,403 - 26,438,284 (+)Ensembl
RefSeq Acc Id: ENST00000531312   ⟹   ENSP00000436764
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl126,432,367 - 26,446,384 (+)Ensembl
RefSeq Acc Id: ENST00000531955
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl126,432,726 - 26,442,889 (+)Ensembl
RefSeq Acc Id: ENST00000533087   ⟹   ENSP00000436119
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl126,432,366 - 26,447,615 (+)Ensembl
RefSeq Acc Id: NM_001243564   ⟹   NP_001230493
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38126,432,321 - 26,471,306 (+)NCBI
GRCh37126,758,773 - 26,797,797 (+)NCBI
HuRef125,013,115 - 25,052,137 (+)NCBI
CHM1_1126,871,776 - 26,910,801 (+)NCBI
T2T-CHM13v2.0126,270,336 - 26,309,325 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001243565   ⟹   NP_001230494
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38126,432,321 - 26,471,306 (+)NCBI
GRCh37126,758,773 - 26,797,797 (+)NCBI
HuRef125,013,115 - 25,052,137 (+)NCBI
CHM1_1126,871,776 - 26,910,801 (+)NCBI
T2T-CHM13v2.0126,270,336 - 26,309,325 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001319959   ⟹   NP_001306888
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38126,432,321 - 26,471,306 (+)NCBI
CHM1_1126,871,776 - 26,910,801 (+)NCBI
T2T-CHM13v2.0126,270,336 - 26,309,325 (+)NCBI
Sequence:
RefSeq Acc Id: NM_024887   ⟹   NP_079163
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38126,432,321 - 26,471,306 (+)NCBI
GRCh37126,758,773 - 26,797,797 (+)NCBI
Build 36126,631,389 - 26,670,384 (+)NCBI Archive
Celera125,156,022 - 25,195,012 (+)RGD
HuRef125,013,115 - 25,052,137 (+)NCBI
CHM1_1126,871,776 - 26,910,801 (+)NCBI
T2T-CHM13v2.0126,270,336 - 26,309,325 (+)NCBI
Sequence:
RefSeq Acc Id: NM_205861   ⟹   NP_995583
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38126,432,321 - 26,471,306 (+)NCBI
GRCh37126,758,773 - 26,797,797 (+)NCBI
Build 36126,631,389 - 26,670,384 (+)NCBI Archive
Celera125,156,022 - 25,195,012 (+)RGD
HuRef125,013,115 - 25,052,137 (+)NCBI
CHM1_1126,871,776 - 26,910,801 (+)NCBI
T2T-CHM13v2.0126,270,336 - 26,309,325 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047430849   ⟹   XP_047286805
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38126,432,321 - 26,471,306 (+)NCBI
RefSeq Acc Id: XM_047430850   ⟹   XP_047286806
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38126,432,321 - 26,471,306 (+)NCBI
RefSeq Acc Id: XM_047430851   ⟹   XP_047286807
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38126,432,321 - 26,471,306 (+)NCBI
RefSeq Acc Id: XM_047430852   ⟹   XP_047286808
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38126,432,321 - 26,471,306 (+)NCBI
RefSeq Acc Id: XM_047430853   ⟹   XP_047286809
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38126,432,321 - 26,471,306 (+)NCBI
RefSeq Acc Id: XM_047430854   ⟹   XP_047286810
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38126,432,321 - 26,471,306 (+)NCBI
RefSeq Acc Id: XM_047430856   ⟹   XP_047286812
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38126,432,321 - 26,471,306 (+)NCBI
RefSeq Acc Id: XM_047430857   ⟹   XP_047286813
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38126,432,321 - 26,471,306 (+)NCBI
RefSeq Acc Id: XM_047430859   ⟹   XP_047286815
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38126,432,321 - 26,471,306 (+)NCBI
RefSeq Acc Id: XM_047430860   ⟹   XP_047286816
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38126,432,321 - 26,471,306 (+)NCBI
RefSeq Acc Id: XM_047430861   ⟹   XP_047286817
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38126,432,321 - 26,471,306 (+)NCBI
RefSeq Acc Id: XM_047430862   ⟹   XP_047286818
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38126,432,321 - 26,471,306 (+)NCBI
RefSeq Acc Id: XM_047430863   ⟹   XP_047286819
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38126,432,321 - 26,471,306 (+)NCBI
RefSeq Acc Id: XM_047430864   ⟹   XP_047286820
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38126,432,321 - 26,471,306 (+)NCBI
RefSeq Acc Id: XM_047430865   ⟹   XP_047286821
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38126,432,321 - 26,471,306 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001230493 (Get FASTA)   NCBI Sequence Viewer  
  NP_001230494 (Get FASTA)   NCBI Sequence Viewer  
  NP_001306888 (Get FASTA)   NCBI Sequence Viewer  
  NP_079163 (Get FASTA)   NCBI Sequence Viewer  
  NP_995583 (Get FASTA)   NCBI Sequence Viewer  
  XP_047286805 (Get FASTA)   NCBI Sequence Viewer  
  XP_047286806 (Get FASTA)   NCBI Sequence Viewer  
  XP_047286807 (Get FASTA)   NCBI Sequence Viewer  
  XP_047286808 (Get FASTA)   NCBI Sequence Viewer  
  XP_047286809 (Get FASTA)   NCBI Sequence Viewer  
  XP_047286810 (Get FASTA)   NCBI Sequence Viewer  
  XP_047286812 (Get FASTA)   NCBI Sequence Viewer  
  XP_047286813 (Get FASTA)   NCBI Sequence Viewer  
  XP_047286815 (Get FASTA)   NCBI Sequence Viewer  
  XP_047286816 (Get FASTA)   NCBI Sequence Viewer  
  XP_047286817 (Get FASTA)   NCBI Sequence Viewer  
  XP_047286818 (Get FASTA)   NCBI Sequence Viewer  
  XP_047286819 (Get FASTA)   NCBI Sequence Viewer  
  XP_047286820 (Get FASTA)   NCBI Sequence Viewer  
  XP_047286821 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH03643 (Get FASTA)   NCBI Sequence Viewer  
  AAH04117 (Get FASTA)   NCBI Sequence Viewer  
  AAH34152 (Get FASTA)   NCBI Sequence Viewer  
  ADU87642 (Get FASTA)   NCBI Sequence Viewer  
  BAB14439 (Get FASTA)   NCBI Sequence Viewer  
  BAC57588 (Get FASTA)   NCBI Sequence Viewer  
  BAH12505 (Get FASTA)   NCBI Sequence Viewer  
  BAH14856 (Get FASTA)   NCBI Sequence Viewer  
  CAR80515 (Get FASTA)   NCBI Sequence Viewer  
  CAR80538 (Get FASTA)   NCBI Sequence Viewer  
  CBX83986 (Get FASTA)   NCBI Sequence Viewer  
  CBX84009 (Get FASTA)   NCBI Sequence Viewer  
  EAX07806 (Get FASTA)   NCBI Sequence Viewer  
  EAX07807 (Get FASTA)   NCBI Sequence Viewer  
  EAX07808 (Get FASTA)   NCBI Sequence Viewer  
  EAX07809 (Get FASTA)   NCBI Sequence Viewer  
  EAX07810 (Get FASTA)   NCBI Sequence Viewer  
  EAX07811 (Get FASTA)   NCBI Sequence Viewer  
  EAX07812 (Get FASTA)   NCBI Sequence Viewer  
  Q86SQ9 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_079163   ⟸   NM_024887
- Peptide Label: isoform 2
- UniProtKB: Q86SQ9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_995583   ⟸   NM_205861
- Peptide Label: isoform 1
- UniProtKB: Q86SQ9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001230493   ⟸   NM_001243564
- Peptide Label: isoform 3
- UniProtKB: Q86SQ9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001230494   ⟸   NM_001243565
- Peptide Label: isoform 4
- UniProtKB: Q86SQ9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001306888   ⟸   NM_001319959
- Peptide Label: isoform 5
- Sequence:
RefSeq Acc Id: ENSP00000433491   ⟸   ENST00000530781
RefSeq Acc Id: ENSP00000399177   ⟸   ENST00000427245
RefSeq Acc Id: ENSP00000353104   ⟸   ENST00000360009
RefSeq Acc Id: ENSP00000436764   ⟸   ENST00000531312
RefSeq Acc Id: ENSP00000363300   ⟸   ENST00000374185
RefSeq Acc Id: ENSP00000436119   ⟸   ENST00000533087
RefSeq Acc Id: ENSP00000393961   ⟸   ENST00000416052
RefSeq Acc Id: ENSP00000397584   ⟸   ENST00000430232
RefSeq Acc Id: ENSP00000399781   ⟸   ENST00000431933
RefSeq Acc Id: ENSP00000431407   ⟸   ENST00000525326
RefSeq Acc Id: ENSP00000434185   ⟸   ENST00000525165
RefSeq Acc Id: ENSP00000434984   ⟸   ENST00000525682
RefSeq Acc Id: ENSP00000236342   ⟸   ENST00000236342
RefSeq Acc Id: ENSP00000433976   ⟸   ENST00000525546
RefSeq Acc Id: ENSP00000434219   ⟸   ENST00000526219
RefSeq Acc Id: ENSP00000403529   ⟸   ENST00000434391
RefSeq Acc Id: ENSP00000405604   ⟸   ENST00000436153
RefSeq Acc Id: XP_047286805   ⟸   XM_047430849
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047286809   ⟸   XM_047430853
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047286815   ⟸   XM_047430859
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047286819   ⟸   XM_047430863
- Peptide Label: isoform X4
RefSeq Acc Id: XP_047286807   ⟸   XM_047430851
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047286812   ⟸   XM_047430856
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047286806   ⟸   XM_047430850
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047286810   ⟸   XM_047430854
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047286817   ⟸   XM_047430861
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047286820   ⟸   XM_047430864
- Peptide Label: isoform X4
RefSeq Acc Id: XP_047286808   ⟸   XM_047430852
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047286813   ⟸   XM_047430857
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047286818   ⟸   XM_047430862
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047286821   ⟸   XM_047430865
- Peptide Label: isoform X4
RefSeq Acc Id: XP_047286816   ⟸   XM_047430860
- Peptide Label: isoform X3

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q86SQ9-F1-model_v2 AlphaFold Q86SQ9 1-333 view protein structure

Promoters
RGD ID:6854632
Promoter ID:EPDNEW_H481
Type:initiation region
Name:DHDDS_1
Description:dehydrodolichyl diphosphate synthase subunit
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38126,432,325 - 26,432,385EPDNEW
RGD ID:6785194
Promoter ID:HG_KWN:1502
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000374185,   ENST00000374186,   ENST00000374187,   ENST00000374190,   ENST00000374192,   NM_024887,   NM_205861,   OTTHUMT00000009897,   OTTHUMT00000096883,   OTTHUMT00000096884,   UC001BMM.1,   UC001BMN.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36126,631,084 - 26,631,584 (+)MPROMDB
RGD ID:6785029
Promoter ID:HG_KWN:1506
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:OTTHUMT00000096886
Position:
Human AssemblyChrPosition (strand)Source
Build 36126,645,181 - 26,645,681 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_205861.3(DHDDS):c.110G>A (p.Arg37His) single nucleotide variant Developmental delay and seizures with or without movement abnormalities [RCV000578122]|Retinitis pigmentosa 59 [RCV001858011]|not provided [RCV000519248] Chr1:26438214 [GRCh38]
Chr1:26764705 [GRCh37]
Chr1:1p36.11
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_205861.3(DHDDS):c.181-161A>G single nucleotide variant not provided [RCV001571446] Chr1:26442570 [GRCh38]
Chr1:26769061 [GRCh37]
Chr1:1p36.11
likely benign
NM_205861.3(DHDDS):c.766-10T>C single nucleotide variant Retinitis pigmentosa 59 [RCV002145605] Chr1:26468885 [GRCh38]
Chr1:26795376 [GRCh37]
Chr1:1p36.11
likely benign
NM_205861.3(DHDDS):c.124A>G (p.Lys42Glu) single nucleotide variant Retinitis pigmentosa 59 [RCV000023687]|Retinitis pigmentosa 59 [RCV000762902]|Retinitis pigmentosa [RCV000778978]|not provided [RCV001354833] Chr1:26438228 [GRCh38]
Chr1:26764719 [GRCh37]
Chr1:1p36.11
pathogenic|likely pathogenic
NM_205861.3(DHDDS):c.109C>A (p.Arg37Ser) single nucleotide variant not provided [RCV000658018] Chr1:26438213 [GRCh38]
Chr1:26764704 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_205861.3(DHDDS):c.909G>T (p.Ser303=) single nucleotide variant Retinitis pigmentosa 59 [RCV001854439]|not provided [RCV000082244] Chr1:26469038 [GRCh38]
Chr1:26795529 [GRCh37]
Chr1:1p36.11
likely benign|uncertain significance
NM_205861.3(DHDDS):c.20G>A (p.Gly7Glu) single nucleotide variant Retinitis pigmentosa 59 [RCV001303725] Chr1:26432965 [GRCh38]
Chr1:26759456 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_205861.3(DHDDS):c.192G>A (p.Trp64Ter) single nucleotide variant Congenital disorder of glycosylation, type Ibb [RCV000578125] Chr1:26442742 [GRCh38]
Chr1:26769233 [GRCh37]
Chr1:1p36.11
pathogenic
NM_205861.3(DHDDS):c.65C>T (p.Ala22Val) single nucleotide variant Retinitis pigmentosa 59 [RCV001302803] Chr1:26438169 [GRCh38]
Chr1:26764660 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_205861.3(DHDDS):c.324-10C>T single nucleotide variant Retinitis pigmentosa 59 [RCV000974771]|not provided [RCV001726024]|not specified [RCV000178997] Chr1:26446306 [GRCh38]
Chr1:26772797 [GRCh37]
Chr1:1p36.11
benign|likely benign
GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3 copy number gain See cases [RCV000138891] Chr1:24381206..41401517 [GRCh38]
Chr1:24707696..41886350 [GRCh37]
Chr1:24580283..41658937 [NCBI36]
Chr1:1p36.11-34.2
pathogenic
NM_205861.3(DHDDS):c.591T>G (p.Ser197=) single nucleotide variant Retinitis pigmentosa 59 [RCV001462640]|not provided [RCV000179978] Chr1:26457839 [GRCh38]
Chr1:26784330 [GRCh37]
Chr1:1p36.11
likely benign|uncertain significance
NM_205861.3(DHDDS):c.*515G>T single nucleotide variant Retinitis pigmentosa [RCV000261270] Chr1:26469646 [GRCh38]
Chr1:26796137 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_205861.3(DHDDS):c.-53T>G single nucleotide variant Retinitis pigmentosa [RCV000264584] Chr1:26432893 [GRCh38]
Chr1:26759384 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_205861.3(DHDDS):c.917G>A (p.Arg306Gln) single nucleotide variant Retinitis pigmentosa [RCV000386265] Chr1:26469046 [GRCh38]
Chr1:26795537 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_205861.3(DHDDS):c.990T>C (p.Thr330=) single nucleotide variant Retinitis pigmentosa 59 [RCV000883330]|Retinitis pigmentosa [RCV000294598] Chr1:26469119 [GRCh38]
Chr1:26795610 [GRCh37]
Chr1:1p36.11
likely benign|uncertain significance
NM_205861.3(DHDDS):c.468C>T (p.Tyr156=) single nucleotide variant Retinitis pigmentosa 59 [RCV002059478]|Retinitis pigmentosa [RCV000263611] Chr1:26447586 [GRCh38]
Chr1:26774077 [GRCh37]
Chr1:1p36.11
likely benign|uncertain significance
NM_205861.3(DHDDS):c.757G>A (p.Val253Met) single nucleotide variant Developmental delay and seizures with or without movement abnormalities [RCV001537673]|Retinitis pigmentosa 59 [RCV001277164]|Retinitis pigmentosa [RCV000373487]|not provided [RCV000838160] Chr1:26460136 [GRCh38]
Chr1:26786627 [GRCh37]
Chr1:1p36.11
benign
GRCh37/hg19 1p36.12-12(chr1:20608823-120546301)x3 copy number loss not provided [RCV000762767] Chr1:20608823..120546301 [GRCh37]
Chr1:1p36.12-12
likely benign
NM_205861.3(DHDDS):c.845T>C (p.Leu282Pro) single nucleotide variant Retinitis pigmentosa [RCV000352641] Chr1:26468974 [GRCh38]
Chr1:26795465 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_205861.3(DHDDS):c.140G>A (p.Arg47Gln) single nucleotide variant Retinitis pigmentosa 59 [RCV000886316]|Retinitis pigmentosa [RCV000322201]|not specified [RCV000297294] Chr1:26438244 [GRCh38]
Chr1:26764735 [GRCh37]
Chr1:1p36.11
likely benign|uncertain significance
NM_205861.3(DHDDS):c.*1343C>T single nucleotide variant Retinitis pigmentosa [RCV000284192] Chr1:26470474 [GRCh38]
Chr1:26796965 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_024887.3(DHDDS):c.-150G>A single nucleotide variant Retinitis pigmentosa [RCV000270561] Chr1:26432282 [GRCh38]
Chr1:26758773 [GRCh37]
Chr1:1p36.11
benign|likely benign
NM_205861.3(DHDDS):c.*1826A>T single nucleotide variant Retinitis Pigmentosa, Recessive [RCV000335571] Chr1:26470957 [GRCh38]
Chr1:26797448 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_205861.3(DHDDS):c.*2032C>T single nucleotide variant Retinitis pigmentosa [RCV000355250] Chr1:26471163 [GRCh38]
Chr1:26797654 [GRCh37]
Chr1:1p36.11
benign|likely benign
NM_205861.3(DHDDS):c.*629C>T single nucleotide variant Retinitis pigmentosa [RCV000357366] Chr1:26469760 [GRCh38]
Chr1:26796251 [GRCh37]
Chr1:1p36.11
likely benign|uncertain significance
NM_205861.3(DHDDS):c.*1431C>T single nucleotide variant Retinitis pigmentosa [RCV000339276] Chr1:26470562 [GRCh38]
Chr1:26797053 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_205861.3(DHDDS):c.*1886C>T single nucleotide variant Retinitis pigmentosa [RCV000404184] Chr1:26471017 [GRCh38]
Chr1:26797508 [GRCh37]
Chr1:1p36.11
benign|likely benign
NM_205861.3(DHDDS):c.*1769G>A single nucleotide variant Retinitis pigmentosa [RCV000304050] Chr1:26470900 [GRCh38]
Chr1:26797391 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_205861.3(DHDDS):c.*128C>G single nucleotide variant Retinitis pigmentosa [RCV000406054] Chr1:26469259 [GRCh38]
Chr1:26795750 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_205861.3(DHDDS):c.*480A>G single nucleotide variant Retinitis pigmentosa [RCV000360929] Chr1:26469611 [GRCh38]
Chr1:26796102 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_024887.3(DHDDS):c.-119G>A single nucleotide variant Retinitis pigmentosa [RCV000361588] Chr1:26432313 [GRCh38]
Chr1:26758804 [GRCh37]
Chr1:1p36.11
likely benign|uncertain significance
NM_205861.3(DHDDS):c.*1300G>C single nucleotide variant Retinitis pigmentosa [RCV000383794] Chr1:26470431 [GRCh38]
Chr1:26796922 [GRCh37]
Chr1:1p36.11
benign|likely benign
NM_205861.3(DHDDS):c.*464T>C single nucleotide variant Retinitis pigmentosa [RCV000306192] Chr1:26469595 [GRCh38]
Chr1:26796086 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_205861.3(DHDDS):c.*769G>T single nucleotide variant Retinitis pigmentosa [RCV000385945] Chr1:26469900 [GRCh38]
Chr1:26796391 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_205861.3(DHDDS):c.*2069A>G single nucleotide variant Retinitis pigmentosa [RCV000311365] Chr1:26471200 [GRCh38]
Chr1:26797691 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_205861.3(DHDDS):c.*2104A>T single nucleotide variant Retinitis pigmentosa [RCV000370809] Chr1:26471235 [GRCh38]
Chr1:26797726 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_205861.3(DHDDS):c.*2045T>A single nucleotide variant Retinitis pigmentosa [RCV000394455] Chr1:26471176 [GRCh38]
Chr1:26797667 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_205861.3(DHDDS):c.*737C>A single nucleotide variant Retinitis pigmentosa [RCV000331436] Chr1:26469868 [GRCh38]
Chr1:26796359 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_205861.3(DHDDS):c.*1182_*1183dup duplication Retinitis Pigmentosa, Recessive [RCV000347925] Chr1:26470312..26470313 [GRCh38]
Chr1:26796803..26796804 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_205861.3(DHDDS):c.*685CTC[2] microsatellite Retinitis Pigmentosa, Recessive [RCV000262638] Chr1:26469816..26469818 [GRCh38]
Chr1:26796307..26796309 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_205861.3(DHDDS):c.*883C>G single nucleotide variant Retinitis Pigmentosa, Recessive [RCV000277468] Chr1:26470014 [GRCh38]
Chr1:26796505 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_205861.3(DHDDS):c.922G>A (p.Glu308Lys) single nucleotide variant Retinitis pigmentosa 59 [RCV001280073] Chr1:26469051 [GRCh38]
Chr1:26795542 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_205861.3(DHDDS):c.*55C>T single nucleotide variant Retinitis pigmentosa [RCV000344823] Chr1:26469186 [GRCh38]
Chr1:26795677 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_205861.3(DHDDS):c.*1178CTT[2] microsatellite Retinitis Pigmentosa, Recessive [RCV000382660] Chr1:26470309..26470311 [GRCh38]
Chr1:26796800..26796802 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_205861.3(DHDDS):c.710T>G (p.Phe237Cys) single nucleotide variant Retinitis pigmentosa [RCV000316405] Chr1:26460089 [GRCh38]
Chr1:26786580 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_205861.3(DHDDS):c.*986T>A single nucleotide variant Retinitis pigmentosa [RCV000332561] Chr1:26470117 [GRCh38]
Chr1:26796608 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_205861.3(DHDDS):c.*312C>T single nucleotide variant Retinitis pigmentosa [RCV000403030] Chr1:26469443 [GRCh38]
Chr1:26795934 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_205861.3(DHDDS):c.775G>A (p.Asp259Asn) single nucleotide variant Retinitis pigmentosa [RCV000295404] Chr1:26468904 [GRCh38]
Chr1:26795395 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_205861.3(DHDDS):c.*620C>T single nucleotide variant Retinitis pigmentosa [RCV000297779] Chr1:26469751 [GRCh38]
Chr1:26796242 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_024887.3(DHDDS):c.-143C>T single nucleotide variant Retinitis pigmentosa [RCV000323239] Chr1:26432289 [GRCh38]
Chr1:26758780 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_205861.3(DHDDS):c.*174G>T single nucleotide variant Retinitis pigmentosa [RCV000309775] Chr1:26469305 [GRCh38]
Chr1:26795796 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_205861.3(DHDDS):c.*1179_*1180dup duplication Retinitis Pigmentosa, Recessive [RCV000288167] Chr1:26470309..26470310 [GRCh38]
Chr1:26796800..26796801 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_205861.3(DHDDS):c.157C>G (p.Gln53Glu) single nucleotide variant Retinitis pigmentosa [RCV000374574] Chr1:26438261 [GRCh38]
Chr1:26764752 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_205861.3(DHDDS):c.*1705G>A single nucleotide variant Retinitis pigmentosa [RCV000392523] Chr1:26470836 [GRCh38]
Chr1:26797327 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_205861.3(DHDDS):c.*264del deletion Retinitis Pigmentosa, Recessive [RCV000341163] Chr1:26469393 [GRCh38]
Chr1:26795884 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_205861.3(DHDDS):c.*1995C>T single nucleotide variant Retinitis Pigmentosa, Recessive [RCV000300368] Chr1:26471126 [GRCh38]
Chr1:26797617 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_205861.3(DHDDS):c.*1497C>T single nucleotide variant Retinitis pigmentosa [RCV001099564] Chr1:26470628 [GRCh38]
Chr1:26797119 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_205861.3(DHDDS):c.632G>A (p.Arg211Gln) single nucleotide variant Developmental delay and seizures with or without movement abnormalities [RCV000578123]|Retinitis pigmentosa 59 [RCV001853833]|not provided [RCV001172209] Chr1:26457880 [GRCh38]
Chr1:26784371 [GRCh37]
Chr1:1p36.11
pathogenic
NM_205861.3(DHDDS):c.542+8G>A single nucleotide variant Retinitis pigmentosa 59 [RCV000955689]|not specified [RCV000597862] Chr1:26447668 [GRCh38]
Chr1:26774159 [GRCh37]
Chr1:1p36.11
benign
NM_205861.3(DHDDS):c.592C>T (p.Pro198Ser) single nucleotide variant Retinitis pigmentosa 59 [RCV001855771]|not provided [RCV000732348] Chr1:26457840 [GRCh38]
Chr1:26784331 [GRCh37]
Chr1:1p36.11
uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
NM_205861.3(DHDDS):c.441-24A>G single nucleotide variant Congenital disorder of glycosylation, type Ibb [RCV000578121]|Retinitis pigmentosa 59 [RCV001860002] Chr1:26447535 [GRCh38]
Chr1:26774026 [GRCh37]
Chr1:1p36.11
pathogenic|likely pathogenic
NM_205861.3(DHDDS):c.940C>T (p.Leu314=) single nucleotide variant Retinitis pigmentosa 59 [RCV000559963] Chr1:26469069 [GRCh38]
Chr1:26795560 [GRCh37]
Chr1:1p36.11
likely benign
NM_205861.3(DHDDS):c.33T>C (p.Leu11=) single nucleotide variant Retinitis pigmentosa 59 [RCV000648820] Chr1:26432978 [GRCh38]
Chr1:26759469 [GRCh37]
Chr1:1p36.11
likely benign
NM_205861.3(DHDDS):c.63G>T (p.Lys21Asn) single nucleotide variant Developmental delay and seizures with or without movement abnormalities [RCV001808168] Chr1:26433008 [GRCh38]
Chr1:26759499 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_205861.3(DHDDS):c.271G>C (p.Asp91His) single nucleotide variant Retinitis pigmentosa 59 [RCV000704528] Chr1:26442821 [GRCh38]
Chr1:26769312 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_205861.3(DHDDS):c.614G>A (p.Arg205Gln) single nucleotide variant Developmental delay and seizures with or without movement abnormalities [RCV002233230]|Retinitis pigmentosa 59 [RCV000691673]|not provided [RCV001539674] Chr1:26457862 [GRCh38]
Chr1:26784353 [GRCh37]
Chr1:1p36.11
pathogenic|likely pathogenic
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44
pathogenic
NM_205861.3(DHDDS):c.720C>T (p.Leu240=) single nucleotide variant Retinitis pigmentosa 59 [RCV000976818] Chr1:26460099 [GRCh38]
Chr1:26786590 [GRCh37]
Chr1:1p36.11
likely benign
NM_205861.3(DHDDS):c.616A>G (p.Thr206Ala) single nucleotide variant Retinitis pigmentosa 59 [RCV002227538]|Retinitis pigmentosa [RCV001724859]|not specified [RCV002246462] Chr1:26457864 [GRCh38]
Chr1:26784355 [GRCh37]
Chr1:1p36.11
likely pathogenic|benign
NM_205861.3(DHDDS):c.161_162delinsAA (p.Gly54Glu) indel not provided [RCV001547603] Chr1:26438265..26438266 [GRCh38]
Chr1:26764756..26764757 [GRCh37]
Chr1:1p36.11
likely pathogenic
NM_205861.3(DHDDS):c.*573C>T single nucleotide variant Retinitis pigmentosa [RCV001095983] Chr1:26469704 [GRCh38]
Chr1:26796195 [GRCh37]
Chr1:1p36.11
uncertain significance
GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3 copy number gain Global developmental delay [RCV000787285] Chr1:103343285..103455144 [GRCh37]
Chr1:1p36.22-21.1
uncertain significance
NM_205861.3(DHDDS):c.-37G>A single nucleotide variant Retinitis pigmentosa [RCV001095892] Chr1:26432909 [GRCh38]
Chr1:26759400 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_205861.3(DHDDS):c.363G>C (p.Leu121=) single nucleotide variant Retinitis pigmentosa 59 [RCV000981263] Chr1:26446355 [GRCh38]
Chr1:26772846 [GRCh37]
Chr1:1p36.11
likely benign
NM_205861.3(DHDDS):c.908C>T (p.Ser303Leu) single nucleotide variant Retinitis pigmentosa 59 [RCV000904699]|Retinitis pigmentosa [RCV001099449]|not provided [RCV001355627]|not specified [RCV001532941] Chr1:26469037 [GRCh38]
Chr1:26795528 [GRCh37]
Chr1:1p36.11
benign|likely benign|uncertain significance
NM_205861.3(DHDDS):c.57C>T (p.Ile19=) single nucleotide variant Retinitis pigmentosa 59 [RCV000922413] Chr1:26433002 [GRCh38]
Chr1:26759493 [GRCh37]
Chr1:1p36.11
likely benign|uncertain significance
NM_205861.3(DHDDS):c.480T>C (p.His160=) single nucleotide variant Retinitis pigmentosa 59 [RCV000942371] Chr1:26447598 [GRCh38]
Chr1:26774089 [GRCh37]
Chr1:1p36.11
likely benign
NM_205861.3(DHDDS):c.570G>A (p.Lys190=) single nucleotide variant Retinitis pigmentosa 59 [RCV001429269]|not provided [RCV000982317] Chr1:26457818 [GRCh38]
Chr1:26784309 [GRCh37]
Chr1:1p36.11
likely benign
NM_205861.3(DHDDS):c.113G>A (p.Arg38His) single nucleotide variant Developmental delay and seizures with or without movement abnormalities [RCV000995533] Chr1:26438217 [GRCh38]
Chr1:26764708 [GRCh37]
Chr1:1p36.11
pathogenic
NM_205861.3(DHDDS):c.45C>T (p.Phe15=) single nucleotide variant Retinitis pigmentosa 59 [RCV000903882] Chr1:26432990 [GRCh38]
Chr1:26759481 [GRCh37]
Chr1:1p36.11
likely benign
NM_205861.3(DHDDS):c.519G>A (p.Val173=) single nucleotide variant Retinitis pigmentosa 59 [RCV000925141] Chr1:26447637 [GRCh38]
Chr1:26774128 [GRCh37]
Chr1:1p36.11
likely benign
NM_205861.3(DHDDS):c.228C>T (p.Tyr76=) single nucleotide variant Retinitis pigmentosa 59 [RCV000942258] Chr1:26442778 [GRCh38]
Chr1:26769269 [GRCh37]
Chr1:1p36.11
likely benign
NM_205861.3(DHDDS):c.504G>A (p.Glu168=) single nucleotide variant Retinitis pigmentosa 59 [RCV000930106] Chr1:26447622 [GRCh38]
Chr1:26774113 [GRCh37]
Chr1:1p36.11
likely benign
NM_205861.3(DHDDS):c.724G>A (p.Glu242Lys) single nucleotide variant Retinitis pigmentosa 59 [RCV000985124] Chr1:26460103 [GRCh38]
Chr1:26786594 [GRCh37]
Chr1:1p36.11
likely pathogenic
NM_205861.3(DHDDS):c.893G>C (p.Arg298Pro) single nucleotide variant Retinitis pigmentosa 59 [RCV000799535]|Retinitis pigmentosa [RCV001099448] Chr1:26469022 [GRCh38]
Chr1:26795513 [GRCh37]
Chr1:1p36.11
uncertain significance
GRCh37/hg19 1p36.11(chr1:26603699-26903828)x3 copy number gain not provided [RCV000847959] Chr1:26603699..26903828 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_205861.3(DHDDS):c.980G>A (p.Arg327His) single nucleotide variant Retinitis pigmentosa 59 [RCV000795814] Chr1:26469109 [GRCh38]
Chr1:26795600 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_205861.3(DHDDS):c.*1261C>T single nucleotide variant Retinitis pigmentosa [RCV001097769] Chr1:26470392 [GRCh38]
Chr1:26796883 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_205861.3(DHDDS):c.183T>C (p.Thr61=) single nucleotide variant not provided [RCV000942965] Chr1:26442733 [GRCh38]
Chr1:26769224 [GRCh37]
Chr1:1p36.11
likely benign
NM_205861.3(DHDDS):c.855G>T (p.Gly285=) single nucleotide variant Retinitis pigmentosa 59 [RCV001426757]|Retinitis pigmentosa [RCV001099447] Chr1:26468984 [GRCh38]
Chr1:26795475 [GRCh37]
Chr1:1p36.11
likely benign|uncertain significance
NM_205861.3(DHDDS):c.*1464C>T single nucleotide variant Retinitis pigmentosa [RCV001099563] Chr1:26470595 [GRCh38]
Chr1:26797086 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_205861.3(DHDDS):c.*1571A>C single nucleotide variant Retinitis pigmentosa [RCV001099565] Chr1:26470702 [GRCh38]
Chr1:26797193 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_205861.3(DHDDS):c.987C>T (p.Gly329=) single nucleotide variant Retinitis pigmentosa 59 [RCV001228678] Chr1:26469116 [GRCh38]
Chr1:26795607 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_205861.3(DHDDS):c.339G>C (p.Lys113Asn) single nucleotide variant Retinitis pigmentosa 59 [RCV001239613] Chr1:26446331 [GRCh38]
Chr1:26772822 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_205861.3(DHDDS):c.491A>G (p.Asn164Ser) single nucleotide variant Retinitis pigmentosa 59 [RCV001211277] Chr1:26447609 [GRCh38]
Chr1:26774100 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_205861.3(DHDDS):c.584A>C (p.Asn195Thr) single nucleotide variant Retinitis pigmentosa 59 [RCV001198629] Chr1:26457832 [GRCh38]
Chr1:26784323 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_205861.3(DHDDS):c.*634G>A single nucleotide variant Retinitis pigmentosa [RCV001095985] Chr1:26469765 [GRCh38]
Chr1:26796256 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_205861.3(DHDDS):c.873C>T (p.Asp291=) single nucleotide variant Retinitis pigmentosa 59 [RCV000944345] Chr1:26469002 [GRCh38]
Chr1:26795493 [GRCh37]
Chr1:1p36.11
likely benign
NM_205861.3(DHDDS):c.210C>T (p.Ile70=) single nucleotide variant Retinitis pigmentosa 59 [RCV000929717] Chr1:26442760 [GRCh38]
Chr1:26769251 [GRCh37]
Chr1:1p36.11
likely benign
NM_205861.3(DHDDS):c.441-10C>T single nucleotide variant Retinitis pigmentosa 59 [RCV001432858]|not provided [RCV000978835] Chr1:26447549 [GRCh38]
Chr1:26774040 [GRCh37]
Chr1:1p36.11
likely benign
NM_205861.3(DHDDS):c.904C>T (p.Leu302Phe) single nucleotide variant Retinitis pigmentosa 59 [RCV001236635] Chr1:26469033 [GRCh38]
Chr1:26795524 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_205861.3(DHDDS):c.706A>T (p.Thr236Ser) single nucleotide variant Retinitis pigmentosa 59 [RCV001044811] Chr1:26460085 [GRCh38]
Chr1:26786576 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_205861.3(DHDDS):c.53A>G (p.Asn18Ser) single nucleotide variant Retinitis pigmentosa 59 [RCV001229845]|Retinitis pigmentosa [RCV001095893] Chr1:26432998 [GRCh38]
Chr1:26759489 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_205861.3(DHDDS):c.*733T>C single nucleotide variant Retinitis pigmentosa [RCV001095986] Chr1:26469864 [GRCh38]
Chr1:26796355 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_205861.3(DHDDS):c.766-4del deletion Retinitis pigmentosa 59 [RCV001221127] Chr1:26468891 [GRCh38]
Chr1:26795382 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_205861.3(DHDDS):c.848G>A (p.Arg283Gln) single nucleotide variant Retinitis pigmentosa 59 [RCV001206509] Chr1:26468977 [GRCh38]
Chr1:26795468 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_205861.3(DHDDS):c.426G>A (p.Thr142=) single nucleotide variant Retinitis pigmentosa 59 [RCV001462663]|not provided [RCV000936038] Chr1:26446418 [GRCh38]
Chr1:26772909 [GRCh37]
Chr1:1p36.11
likely benign
NM_205861.3(DHDDS):c.543-287T>C single nucleotide variant not provided [RCV001562598] Chr1:26457504 [GRCh38]
Chr1:26783995 [GRCh37]
Chr1:1p36.11
likely benign
NM_205861.3(DHDDS):c.817G>T (p.Asp273Tyr) single nucleotide variant Seizure [RCV001263261] Chr1:26468946 [GRCh38]
Chr1:26795437 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_205861.3(DHDDS):c.109C>T (p.Arg37Cys) single nucleotide variant Retinitis pigmentosa 59 [RCV001866177]|not provided [RCV001593456] Chr1:26438213 [GRCh38]
Chr1:26764704 [GRCh37]
Chr1:1p36.11
pathogenic|uncertain significance
NM_205861.3(DHDDS):c.543-209_543-208del deletion not provided [RCV001620540] Chr1:26457566..26457567 [GRCh38]
Chr1:26784057..26784058 [GRCh37]
Chr1:1p36.11
benign
NM_205861.3(DHDDS):c.892C>T (p.Arg298Cys) single nucleotide variant Retinitis pigmentosa 59 [RCV001050034] Chr1:26469021 [GRCh38]
Chr1:26795512 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_205861.3(DHDDS):c.*109C>T single nucleotide variant Retinitis pigmentosa [RCV001099450] Chr1:26469240 [GRCh38]
Chr1:26795731 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_205861.3(DHDDS):c.518T>C (p.Val173Ala) single nucleotide variant not provided [RCV001172208] Chr1:26447636 [GRCh38]
Chr1:26774127 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_205861.3(DHDDS):c.*433T>C single nucleotide variant Retinitis pigmentosa [RCV001101449] Chr1:26469564 [GRCh38]
Chr1:26796055 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_205861.3(DHDDS):c.*404C>G single nucleotide variant Retinitis pigmentosa [RCV001101448] Chr1:26469535 [GRCh38]
Chr1:26796026 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_205861.3(DHDDS):c.292C>T (p.Arg98Trp) single nucleotide variant Retinitis pigmentosa 59 [RCV001862719]|Retinitis pigmentosa [RCV001003005] Chr1:26442842 [GRCh38]
Chr1:26769333 [GRCh37]
Chr1:1p36.11
likely pathogenic|uncertain significance
NM_205861.3(DHDDS):c.542+1G>A single nucleotide variant Developmental delay and seizures with or without movement abnormalities [RCV001706778] Chr1:26447661 [GRCh38]
Chr1:26774152 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_205861.3(DHDDS):c.440+256GT[12] microsatellite not provided [RCV001645122] Chr1:26446687..26446688 [GRCh38]
Chr1:26773178..26773179 [GRCh37]
Chr1:1p36.11
benign
NM_205861.3(DHDDS):c.323+184_323+185insTTTTTT insertion not provided [RCV001648452] Chr1:26443052..26443053 [GRCh38]
Chr1:26769543..26769544 [GRCh37]
Chr1:1p36.11
benign
NM_205861.3(DHDDS):c.543-208del deletion not provided [RCV001539099] Chr1:26457566 [GRCh38]
Chr1:26784057 [GRCh37]
Chr1:1p36.11
benign
NM_205861.3(DHDDS):c.-55-233A>G single nucleotide variant not provided [RCV001666498] Chr1:26432658 [GRCh38]
Chr1:26759149 [GRCh37]
Chr1:1p36.11
benign
NM_205861.3(DHDDS):c.64-212G>A single nucleotide variant not provided [RCV001647688] Chr1:26437956 [GRCh38]
Chr1:26764447 [GRCh37]
Chr1:1p36.11
benign
NM_205861.3(DHDDS):c.*623G>A single nucleotide variant Retinitis pigmentosa [RCV001095984] Chr1:26469754 [GRCh38]
Chr1:26796245 [GRCh37]
Chr1:1p36.11
likely benign
NM_205861.3(DHDDS):c.299A>C (p.Lys100Thr) single nucleotide variant Retinitis pigmentosa 59 [RCV001207675] Chr1:26442849 [GRCh38]
Chr1:26769340 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_205861.3(DHDDS):c.*1574C>T single nucleotide variant Retinitis pigmentosa [RCV001099566] Chr1:26470705 [GRCh38]
Chr1:26797196 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_205861.3(DHDDS):c.*988C>T single nucleotide variant Retinitis pigmentosa [RCV001097768] Chr1:26470119 [GRCh38]
Chr1:26796610 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_205861.3(DHDDS):c.*1439C>G single nucleotide variant Retinitis pigmentosa [RCV001097770] Chr1:26470570 [GRCh38]
Chr1:26797061 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_205861.3(DHDDS):c.962G>A (p.Arg321Gln) single nucleotide variant Retinitis pigmentosa 59 [RCV001248204] Chr1:26469091 [GRCh38]
Chr1:26795582 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_205861.3(DHDDS):c.*210C>T single nucleotide variant Retinitis pigmentosa [RCV001101446] Chr1:26469341 [GRCh38]
Chr1:26795832 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_205861.3(DHDDS):c.604A>G (p.Ile202Val) single nucleotide variant Retinitis pigmentosa 59 [RCV001246321] Chr1:26457852 [GRCh38]
Chr1:26784343 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_205861.3(DHDDS):c.794G>A (p.Arg265Gln) single nucleotide variant Retinitis pigmentosa [RCV001097675] Chr1:26468923 [GRCh38]
Chr1:26795414 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_205861.3(DHDDS):c.817G>A (p.Asp273Asn) single nucleotide variant Retinitis pigmentosa 59 [RCV001248180] Chr1:26468946 [GRCh38]
Chr1:26795437 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_205861.3(DHDDS):c.307C>T (p.Arg103Cys) single nucleotide variant Retinitis pigmentosa 59 [RCV001051780] Chr1:26442857 [GRCh38]
Chr1:26769348 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_205861.3(DHDDS):c.919G>C (p.Glu307Gln) single nucleotide variant Retinitis pigmentosa 59 [RCV001062572] Chr1:26469048 [GRCh38]
Chr1:26795539 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_205861.3(DHDDS):c.*226C>G single nucleotide variant Retinitis pigmentosa [RCV001101447] Chr1:26469357 [GRCh38]
Chr1:26795848 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_205861.3(DHDDS):c.104G>A (p.Gly35Glu) single nucleotide variant Inborn genetic diseases [RCV001266622]|Retinitis pigmentosa 59 [RCV001880122]|not provided [RCV001577222] Chr1:26438208 [GRCh38]
Chr1:26764699 [GRCh37]
Chr1:1p36.11
likely pathogenic|uncertain significance
NM_205861.3(DHDDS):c.324-4T>G single nucleotide variant Retinitis pigmentosa 59 [RCV001313825] Chr1:26446312 [GRCh38]
Chr1:26772803 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_205861.3(DHDDS):c.85A>G (p.Ile29Val) single nucleotide variant Retinitis pigmentosa 59 [RCV001317360] Chr1:26438189 [GRCh38]
Chr1:26764680 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_205861.3(DHDDS):c.711T>G (p.Phe237Leu) single nucleotide variant Developmental delay and seizures with or without movement abnormalities [RCV001329382] Chr1:26460090 [GRCh38]
Chr1:26786581 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_205861.3(DHDDS):c.366C>T (p.Gly122=) single nucleotide variant Retinitis pigmentosa 59 [RCV001350415] Chr1:26446358 [GRCh38]
Chr1:26772849 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_205861.3(DHDDS):c.621T>A (p.Ser207=) single nucleotide variant Retinitis pigmentosa 59 [RCV001339789] Chr1:26457869 [GRCh38]
Chr1:26784360 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_205861.3(DHDDS):c.387G>C (p.Leu129Phe) single nucleotide variant Retinitis pigmentosa 59 [RCV001301115] Chr1:26446379 [GRCh38]
Chr1:26772870 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_205861.3(DHDDS):c.399G>C (p.Glu133Asp) single nucleotide variant Retinitis pigmentosa 59 [RCV001296022] Chr1:26446391 [GRCh38]
Chr1:26772882 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_205861.3(DHDDS):c.476G>A (p.Arg159His) single nucleotide variant Retinitis pigmentosa 59 [RCV001317792] Chr1:26447594 [GRCh38]
Chr1:26774085 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_205861.3(DHDDS):c.886A>C (p.Arg296=) single nucleotide variant Retinitis pigmentosa 59 [RCV001392499] Chr1:26469015 [GRCh38]
Chr1:26795506 [GRCh37]
Chr1:1p36.11
likely benign
NM_205861.3(DHDDS):c.681C>G (p.Phe227Leu) single nucleotide variant Retinitis pigmentosa 59 [RCV001376410] Chr1:26460060 [GRCh38]
Chr1:26786551 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_205861.3(DHDDS):c.874G>A (p.Ala292Thr) single nucleotide variant Retinitis pigmentosa 59 [RCV001372883] Chr1:26469003 [GRCh38]
Chr1:26795494 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_205861.3(DHDDS):c.274G>A (p.Gly92Arg) single nucleotide variant Retinitis pigmentosa 59 [RCV001321972] Chr1:26442824 [GRCh38]
Chr1:26769315 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_205861.3(DHDDS):c.308G>A (p.Arg103His) single nucleotide variant Retinitis pigmentosa 59 [RCV001341105] Chr1:26442858 [GRCh38]
Chr1:26769349 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_205861.3(DHDDS):c.202C>T (p.Leu68=) single nucleotide variant Retinitis pigmentosa 59 [RCV001396028] Chr1:26442752 [GRCh38]
Chr1:26769243 [GRCh37]
Chr1:1p36.11
likely benign
NM_205861.3(DHDDS):c.299A>G (p.Lys100Arg) single nucleotide variant Retinitis pigmentosa 59 [RCV001295530] Chr1:26442849 [GRCh38]
Chr1:26769340 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_205861.3(DHDDS):c.181-7C>G single nucleotide variant Retinitis pigmentosa 59 [RCV001492100] Chr1:26442724 [GRCh38]
Chr1:26769215 [GRCh37]
Chr1:1p36.11
likely benign
NM_205861.3(DHDDS):c.440+8C>A single nucleotide variant Retinitis pigmentosa 59 [RCV001487306] Chr1:26446440 [GRCh38]
Chr1:26772931 [GRCh37]
Chr1:1p36.11
likely benign
NM_205861.3(DHDDS):c.348G>A (p.Val116=) single nucleotide variant Retinitis pigmentosa 59 [RCV001485803] Chr1:26446340 [GRCh38]
Chr1:26772831 [GRCh37]
Chr1:1p36.11
likely benign
NM_205861.3(DHDDS):c.723C>T (p.Phe241=) single nucleotide variant Retinitis pigmentosa 59 [RCV001471367] Chr1:26460102 [GRCh38]
Chr1:26786593 [GRCh37]
Chr1:1p36.11
likely benign
NM_205861.3(DHDDS):c.702G>A (p.Glu234=) single nucleotide variant Retinitis pigmentosa 59 [RCV001471796] Chr1:26460081 [GRCh38]
Chr1:26786572 [GRCh37]
Chr1:1p36.11
likely benign
NM_205861.3(DHDDS):c.181-9C>T single nucleotide variant Retinitis pigmentosa 59 [RCV001492878] Chr1:26442722 [GRCh38]
Chr1:26769213 [GRCh37]
Chr1:1p36.11
likely benign
NM_205861.3(DHDDS):c.498G>A (p.Val166=) single nucleotide variant Retinitis pigmentosa 59 [RCV001492983] Chr1:26447616 [GRCh38]
Chr1:26774107 [GRCh37]
Chr1:1p36.11
likely benign
NM_205861.3(DHDDS):c.459T>C (p.Cys153=) single nucleotide variant Retinitis pigmentosa 59 [RCV001466541] Chr1:26447577 [GRCh38]
Chr1:26774068 [GRCh37]
Chr1:1p36.11
likely benign
NM_205861.3(DHDDS):c.423C>T (p.Ala141=) single nucleotide variant Retinitis pigmentosa 59 [RCV001470895] Chr1:26446415 [GRCh38]
Chr1:26772906 [GRCh37]
Chr1:1p36.11
likely benign
NM_205861.3(DHDDS):c.564T>C (p.Leu188=) single nucleotide variant Retinitis pigmentosa 59 [RCV001518446] Chr1:26457812 [GRCh38]
Chr1:26784303 [GRCh37]
Chr1:1p36.11
benign
NM_205861.3(DHDDS):c.181-5C>T single nucleotide variant Retinitis pigmentosa 59 [RCV001469145] Chr1:26442726 [GRCh38]
Chr1:26769217 [GRCh37]
Chr1:1p36.11
likely benign
NM_205861.3(DHDDS):c.766-10T>G single nucleotide variant Retinitis pigmentosa 59 [RCV001493626] Chr1:26468885 [GRCh38]
Chr1:26795376 [GRCh37]
Chr1:1p36.11
likely benign
NM_205861.3(DHDDS):c.542+7C>T single nucleotide variant Retinitis pigmentosa 59 [RCV001441032] Chr1:26447667 [GRCh38]
Chr1:26774158 [GRCh37]
Chr1:1p36.11
likely benign
NM_205861.3(DHDDS):c.64-7T>C single nucleotide variant Retinitis pigmentosa 59 [RCV001439570] Chr1:26438161 [GRCh38]
Chr1:26764652 [GRCh37]
Chr1:1p36.11
likely benign
NM_205861.3(DHDDS):c.516G>C (p.Gly172=) single nucleotide variant Retinitis pigmentosa 59 [RCV001409650] Chr1:26447634 [GRCh38]
Chr1:26774125 [GRCh37]
Chr1:1p36.11
likely benign
NM_205861.3(DHDDS):c.465A>G (p.Ala155=) single nucleotide variant Retinitis pigmentosa 59 [RCV001446426] Chr1:26447583 [GRCh38]
Chr1:26774074 [GRCh37]
Chr1:1p36.11
likely benign
NM_205861.3(DHDDS):c.264T>C (p.Ser88=) single nucleotide variant Retinitis pigmentosa 59 [RCV001430728] Chr1:26442814 [GRCh38]
Chr1:26769305 [GRCh37]
Chr1:1p36.11
likely benign
NM_205861.3(DHDDS):c.543-7A>G single nucleotide variant Retinitis pigmentosa 59 [RCV001418591] Chr1:26457784 [GRCh38]
Chr1:26784275 [GRCh37]
Chr1:1p36.11
likely benign
NM_205861.3(DHDDS):c.658-2A>G single nucleotide variant Retinitis pigmentosa 59 [RCV001377031] Chr1:26460035 [GRCh38]
Chr1:26786526 [GRCh37]
Chr1:1p36.11
likely pathogenic
NM_205861.3(DHDDS):c.181-16C>A single nucleotide variant Developmental delay and seizures with or without movement abnormalities [RCV001420530]|Retinitis pigmentosa 59 [RCV002070261] Chr1:26442715 [GRCh38]
Chr1:26769206 [GRCh37]
Chr1:1p36.11
likely benign|uncertain significance
NM_205861.3(DHDDS):c.517dup (p.Val173fs) duplication Retinitis pigmentosa 59 [RCV001381692] Chr1:26447629..26447630 [GRCh38]
Chr1:26774120..26774121 [GRCh37]
Chr1:1p36.11
pathogenic
NM_205861.3(DHDDS):c.651A>G (p.Leu217=) single nucleotide variant Retinitis pigmentosa 59 [RCV001445058] Chr1:26457899 [GRCh38]
Chr1:26784390 [GRCh37]
Chr1:1p36.11
likely benign
NM_205861.3(DHDDS):c.219G>A (p.Val73=) single nucleotide variant Retinitis pigmentosa 59 [RCV001447677] Chr1:26442769 [GRCh38]
Chr1:26769260 [GRCh37]
Chr1:1p36.11
likely benign
NM_205861.3(DHDDS):c.374_377dup (p.Pro128fs) duplication Retinitis pigmentosa 59 [RCV001390488] Chr1:26446365..26446366 [GRCh38]
Chr1:26772856..26772857 [GRCh37]
Chr1:1p36.11
pathogenic
NM_205861.3(DHDDS):c.312G>A (p.Leu104=) single nucleotide variant Retinitis pigmentosa 59 [RCV001410864] Chr1:26442862 [GRCh38]
Chr1:26769353 [GRCh37]
Chr1:1p36.11
likely benign
NM_205861.3(DHDDS):c.324-7T>C single nucleotide variant Retinitis pigmentosa 59 [RCV001442945] Chr1:26446309 [GRCh38]
Chr1:26772800 [GRCh37]
Chr1:1p36.11
likely benign
NM_205861.3(DHDDS):c.837G>A (p.Glu279=) single nucleotide variant Retinitis pigmentosa 59 [RCV001448450] Chr1:26468966 [GRCh38]
Chr1:26795457 [GRCh37]
Chr1:1p36.11
likely benign
NM_205861.3(DHDDS):c.549C>T (p.Ile183=) single nucleotide variant Retinitis pigmentosa 59 [RCV001461487] Chr1:26457797 [GRCh38]
Chr1:26784288 [GRCh37]
Chr1:1p36.11
likely benign
NM_205861.3(DHDDS):c.231A>G (p.Ala77=) single nucleotide variant Retinitis pigmentosa 59 [RCV001490522] Chr1:26442781 [GRCh38]
Chr1:26769272 [GRCh37]
Chr1:1p36.11
likely benign
NM_205861.3(DHDDS):c.64-9A>C single nucleotide variant Retinitis pigmentosa 59 [RCV001496806] Chr1:26438159 [GRCh38]
Chr1:26764650 [GRCh37]
Chr1:1p36.11
likely benign
NM_205861.3(DHDDS):c.270A>T (p.Val90=) single nucleotide variant Retinitis pigmentosa 59 [RCV001496880] Chr1:26442820 [GRCh38]
Chr1:26769311 [GRCh37]
Chr1:1p36.11
likely benign
NM_205861.3(DHDDS):c.543-10C>T single nucleotide variant Retinitis pigmentosa 59 [RCV001503974] Chr1:26457781 [GRCh38]
Chr1:26784272 [GRCh37]
Chr1:1p36.11
likely benign
NM_205861.3(DHDDS):c.42G>C (p.Arg14=) single nucleotide variant Retinitis pigmentosa 59 [RCV001428466] Chr1:26432987 [GRCh38]
Chr1:26759478 [GRCh37]
Chr1:1p36.11
likely benign
NM_205861.3(DHDDS):c.658-8T>C single nucleotide variant Retinitis pigmentosa 59 [RCV001468981] Chr1:26460029 [GRCh38]
Chr1:26786520 [GRCh37]
Chr1:1p36.11
likely benign
NM_205861.3(DHDDS):c.273C>T (p.Asp91=) single nucleotide variant Retinitis pigmentosa 59 [RCV001467331] Chr1:26442823 [GRCh38]
Chr1:26769314 [GRCh37]
Chr1:1p36.11
likely benign
NC_000001.10:g.(?_25870180)_(26795632_?)del deletion Hypercholesterolemia, familial, 4 [RCV001385284] Chr1:25870180..26795632 [GRCh37]
Chr1:1p36.11
pathogenic
NM_205861.3(DHDDS):c.361C>T (p.Leu121=) single nucleotide variant Retinitis pigmentosa 59 [RCV001453618] Chr1:26446353 [GRCh38]
Chr1:26772844 [GRCh37]
Chr1:1p36.11
likely benign
NM_205861.3(DHDDS):c.441-5C>T single nucleotide variant Retinitis pigmentosa 59 [RCV001454794] Chr1:26447554 [GRCh38]
Chr1:26774045 [GRCh37]
Chr1:1p36.11
likely benign
NM_205861.3(DHDDS):c.111T>G (p.Arg37=) single nucleotide variant Retinitis pigmentosa 59 [RCV001440617] Chr1:26438215 [GRCh38]
Chr1:26764706 [GRCh37]
Chr1:1p36.11
likely benign
NM_205861.3(DHDDS):c.78G>A (p.Pro26=) single nucleotide variant Retinitis pigmentosa 59 [RCV001418499] Chr1:26438182 [GRCh38]
Chr1:26764673 [GRCh37]
Chr1:1p36.11
likely benign
NM_205861.3(DHDDS):c.756C>T (p.Ser252=) single nucleotide variant Retinitis pigmentosa 59 [RCV001427673] Chr1:26460135 [GRCh38]
Chr1:26786626 [GRCh37]
Chr1:1p36.11
likely benign
NM_205861.3(DHDDS):c.912C>G (p.Ala304=) single nucleotide variant Retinitis pigmentosa 59 [RCV001424410] Chr1:26469041 [GRCh38]
Chr1:26795532 [GRCh37]
Chr1:1p36.11
likely benign
NM_205861.3(DHDDS):c.542+7C>A single nucleotide variant Retinitis pigmentosa 59 [RCV001402562] Chr1:26447667 [GRCh38]
Chr1:26774158 [GRCh37]
Chr1:1p36.11
likely benign
NM_205861.3(DHDDS):c.186G>T (p.Leu62=) single nucleotide variant Retinitis pigmentosa 59 [RCV001427066] Chr1:26442736 [GRCh38]
Chr1:26769227 [GRCh37]
Chr1:1p36.11
likely benign
NM_205861.3(DHDDS):c.802C>T (p.Gln268Ter) single nucleotide variant not specified [RCV001733406] Chr1:26468931 [GRCh38]
Chr1:26795422 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_205861.3(DHDDS):c.517G>A (p.Val173Met) single nucleotide variant Developmental delay and seizures with or without movement abnormalities [RCV001808842] Chr1:26447635 [GRCh38]
Chr1:26774126 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_205861.3(DHDDS):c.323A>G (p.Lys108Arg) single nucleotide variant Retinitis pigmentosa 59 [RCV001863625] Chr1:26442873 [GRCh38]
Chr1:26769364 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_205861.3(DHDDS):c.293G>A (p.Arg98Gln) single nucleotide variant Retinitis pigmentosa 59 [RCV002042422] Chr1:26442843 [GRCh38]
Chr1:26769334 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_205861.3(DHDDS):c.425C>T (p.Thr142Met) single nucleotide variant Retinitis pigmentosa 59 [RCV002025779] Chr1:26446417 [GRCh38]
Chr1:26772908 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_205861.3(DHDDS):c.668C>G (p.Ser223Cys) single nucleotide variant Retinitis pigmentosa 59 [RCV001874906] Chr1:26460047 [GRCh38]
Chr1:26786538 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_205861.3(DHDDS):c.404T>C (p.Ile135Thr) single nucleotide variant Retinitis pigmentosa 59 [RCV002025074] Chr1:26446396 [GRCh38]
Chr1:26772887 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_205861.3(DHDDS):c.441-2A>T single nucleotide variant Retinitis pigmentosa 59 [RCV002043905] Chr1:26447557 [GRCh38]
Chr1:26774048 [GRCh37]
Chr1:1p36.11
likely pathogenic
GRCh37/hg19 1p36.11(chr1:26246213-27044118)x3 copy number gain not provided [RCV001829142] Chr1:26246213..27044118 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_205861.3(DHDDS):c.441-20T>G single nucleotide variant Retinitis pigmentosa 59 [RCV002006978] Chr1:26447539 [GRCh38]
Chr1:26774030 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_205861.3(DHDDS):c.512G>T (p.Trp171Leu) single nucleotide variant Retinitis pigmentosa 59 [RCV001966946] Chr1:26447630 [GRCh38]
Chr1:26774121 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_205861.3(DHDDS):c.74T>G (p.Met25Arg) single nucleotide variant Retinitis pigmentosa 59 [RCV001987822] Chr1:26438178 [GRCh38]
Chr1:26764669 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_205861.3(DHDDS):c.547A>C (p.Ile183Leu) single nucleotide variant Retinitis pigmentosa 59 [RCV001874607] Chr1:26457795 [GRCh38]
Chr1:26784286 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_205861.3(DHDDS):c.714G>A (p.Trp238Ter) single nucleotide variant Retinitis pigmentosa 59 [RCV001896662] Chr1:26460093 [GRCh38]
Chr1:26786584 [GRCh37]
Chr1:1p36.11
pathogenic
NM_205861.3(DHDDS):c.565G>A (p.Asp189Asn) single nucleotide variant Retinitis pigmentosa 59 [RCV002039943] Chr1:26457813 [GRCh38]
Chr1:26784304 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_205861.3(DHDDS):c.102C>T (p.Asp34=) single nucleotide variant Retinitis pigmentosa 59 [RCV001983094] Chr1:26438206 [GRCh38]
Chr1:26764697 [GRCh37]
Chr1:1p36.11
likely benign
NM_205861.3(DHDDS):c.587G>A (p.Arg196His) single nucleotide variant Retinitis pigmentosa 59 [RCV001910268] Chr1:26457835 [GRCh38]
Chr1:26784326 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_205861.3(DHDDS):c.916C>T (p.Arg306Trp) single nucleotide variant Retinitis pigmentosa 59 [RCV002004206] Chr1:26469045 [GRCh38]
Chr1:26795536 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_205861.3(DHDDS):c.139C>T (p.Arg47Trp) single nucleotide variant Retinitis pigmentosa 59 [RCV001945640] Chr1:26438243 [GRCh38]
Chr1:26764734 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_205861.3(DHDDS):c.684A>G (p.Gln228=) single nucleotide variant Retinitis pigmentosa 59 [RCV001985813] Chr1:26460063 [GRCh38]
Chr1:26786554 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_205861.3(DHDDS):c.979C>T (p.Arg327Cys) single nucleotide variant Retinitis pigmentosa 59 [RCV001912779] Chr1:26469108 [GRCh38]
Chr1:26795599 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_205861.3(DHDDS):c.112C>T (p.Arg38Cys) single nucleotide variant Retinitis pigmentosa 59 [RCV001966556] Chr1:26438216 [GRCh38]
Chr1:26764707 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_205861.3(DHDDS):c.208A>C (p.Ile70Leu) single nucleotide variant Retinitis pigmentosa 59 [RCV001873012] Chr1:26442758 [GRCh38]
Chr1:26769249 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_205861.3(DHDDS):c.744G>C (p.Gln248His) single nucleotide variant Retinitis pigmentosa 59 [RCV001895424] Chr1:26460123 [GRCh38]
Chr1:26786614 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_205861.3(DHDDS):c.259A>G (p.Lys87Glu) single nucleotide variant Retinitis pigmentosa 59 [RCV001984413] Chr1:26442809 [GRCh38]
Chr1:26769300 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_205861.3(DHDDS):c.143A>G (p.Gln48Arg) single nucleotide variant Retinitis pigmentosa 59 [RCV001877500] Chr1:26438247 [GRCh38]
Chr1:26764738 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_205861.3(DHDDS):c.58A>G (p.Ile20Val) single nucleotide variant Retinitis pigmentosa 59 [RCV001944378] Chr1:26433003 [GRCh38]
Chr1:26759494 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_205861.3(DHDDS):c.350G>C (p.Cys117Ser) single nucleotide variant Retinitis pigmentosa 59 [RCV001932784] Chr1:26446342 [GRCh38]
Chr1:26772833 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_205861.3(DHDDS):c.254G>A (p.Arg85His) single nucleotide variant Retinitis pigmentosa 59 [RCV002001034] Chr1:26442804 [GRCh38]
Chr1:26769295 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_205861.3(DHDDS):c.722T>G (p.Phe241Cys) single nucleotide variant Retinitis pigmentosa 59 [RCV001934713] Chr1:26460101 [GRCh38]
Chr1:26786592 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_205861.3(DHDDS):c.709T>C (p.Phe237Leu) single nucleotide variant Retinitis pigmentosa 59 [RCV001975273] Chr1:26460088 [GRCh38]
Chr1:26786579 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_205861.3(DHDDS):c.822G>C (p.Gln274His) single nucleotide variant Retinitis pigmentosa 59 [RCV001977841] Chr1:26468951 [GRCh38]
Chr1:26795442 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_205861.3(DHDDS):c.733C>G (p.Leu245Val) single nucleotide variant Retinitis pigmentosa 59 [RCV001952889] Chr1:26460112 [GRCh38]
Chr1:26786603 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_205861.3(DHDDS):c.475C>T (p.Arg159Cys) single nucleotide variant Retinitis pigmentosa 59 [RCV001920520] Chr1:26447593 [GRCh38]
Chr1:26774084 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_205861.3(DHDDS):c.440A>G (p.Lys147Arg) single nucleotide variant Retinitis pigmentosa 59 [RCV001935164] Chr1:26446432 [GRCh38]
Chr1:26772923 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_205861.3(DHDDS):c.22G>C (p.Glu8Gln) single nucleotide variant Retinitis pigmentosa 59 [RCV002031533] Chr1:26432967 [GRCh38]
Chr1:26759458 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_205861.3(DHDDS):c.909G>A (p.Ser303=) single nucleotide variant Retinitis pigmentosa 59 [RCV001899476] Chr1:26469038 [GRCh38]
Chr1:26795529 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_205861.3(DHDDS):c.419A>G (p.Gln140Arg) single nucleotide variant Retinitis pigmentosa 59 [RCV002010779] Chr1:26446411 [GRCh38]
Chr1:26772902 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_205861.3(DHDDS):c.510dup (p.Trp171fs) duplication Retinitis pigmentosa 59 [RCV001933078] Chr1:26447626..26447627 [GRCh38]
Chr1:26774117..26774118 [GRCh37]
Chr1:1p36.11
pathogenic
NM_205861.3(DHDDS):c.542+11T>G single nucleotide variant Retinitis pigmentosa 59 [RCV001922197] Chr1:26447671 [GRCh38]
Chr1:26774162 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_205861.3(DHDDS):c.691C>G (p.Leu231Val) single nucleotide variant Retinitis pigmentosa 59 [RCV001879590] Chr1:26460070 [GRCh38]
Chr1:26786561 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_205861.3(DHDDS):c.765+5G>T single nucleotide variant Retinitis pigmentosa 59 [RCV002013905] Chr1:26460149 [GRCh38]
Chr1:26786640 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_205861.3(DHDDS):c.447C>A (p.Phe149Leu) single nucleotide variant Retinitis pigmentosa 59 [RCV001870339] Chr1:26447565 [GRCh38]
Chr1:26774056 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_205861.3(DHDDS):c.86T>C (p.Ile29Thr) single nucleotide variant Retinitis pigmentosa 59 [RCV001906321] Chr1:26438190 [GRCh38]
Chr1:26764681 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_205861.3(DHDDS):c.688G>A (p.Val230Ile) single nucleotide variant Retinitis pigmentosa 59 [RCV001939171] Chr1:26460067 [GRCh38]
Chr1:26786558 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_205861.3(DHDDS):c.866G>T (p.Ser289Ile) single nucleotide variant Retinitis pigmentosa 59 [RCV001866533] Chr1:26468995 [GRCh38]
Chr1:26795486 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_205861.3(DHDDS):c.64-12C>A single nucleotide variant Retinitis pigmentosa 59 [RCV001953751] Chr1:26438156 [GRCh38]
Chr1:26764647 [GRCh37]
Chr1:1p36.11
likely benign
NC_000001.10:g.(?_26764639)_(26764795_?)del deletion Retinitis pigmentosa 59 [RCV002050276] Chr1:26764639..26764795 [GRCh37]
Chr1:1p36.11
likely pathogenic
NC_000001.10:g.(?_26784272)_(26784406_?)del deletion Retinitis pigmentosa 59 [RCV002050277] Chr1:26784272..26784406 [GRCh37]
Chr1:1p36.11
likely pathogenic
NM_205861.3(DHDDS):c.390T>G (p.Asp130Glu) single nucleotide variant Retinitis pigmentosa 59 [RCV002046439] Chr1:26446382 [GRCh38]
Chr1:26772873 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_205861.3(DHDDS):c.542+6C>G single nucleotide variant Retinitis pigmentosa 59 [RCV001922195] Chr1:26447666 [GRCh38]
Chr1:26774157 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_205861.3(DHDDS):c.411A>C (p.Gln137His) single nucleotide variant Retinitis pigmentosa 59 [RCV001904951] Chr1:26446403 [GRCh38]
Chr1:26772894 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_205861.3(DHDDS):c.425C>G (p.Thr142Arg) single nucleotide variant Retinitis pigmentosa 59 [RCV001897671] Chr1:26446417 [GRCh38]
Chr1:26772908 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_205861.3(DHDDS):c.765+18G>T single nucleotide variant Retinitis pigmentosa 59 [RCV001939084] Chr1:26460162 [GRCh38]
Chr1:26786653 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_205861.3(DHDDS):c.658-11_658-9dup duplication Retinitis pigmentosa 59 [RCV002033825] Chr1:26460025..26460026 [GRCh38]
Chr1:26786516..26786517 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_205861.3(DHDDS):c.590C>G (p.Ser197Cys) single nucleotide variant Retinitis pigmentosa 59 [RCV001866712] Chr1:26457838 [GRCh38]
Chr1:26784329 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_205861.3(DHDDS):c.793C>T (p.Arg265Trp) single nucleotide variant Retinitis pigmentosa 59 [RCV001897859] Chr1:26468922 [GRCh38]
Chr1:26795413 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_205861.3(DHDDS):c.813G>A (p.Glu271=) single nucleotide variant Retinitis pigmentosa 59 [RCV002144978] Chr1:26468942 [GRCh38]
Chr1:26795433 [GRCh37]
Chr1:1p36.11
likely benign
NM_205861.3(DHDDS):c.64-12C>T single nucleotide variant Retinitis pigmentosa 59 [RCV002187959] Chr1:26438156 [GRCh38]
Chr1:26764647 [GRCh37]
Chr1:1p36.11
likely benign
NM_205861.3(DHDDS):c.658-9C>T single nucleotide variant Retinitis pigmentosa 59 [RCV002165197] Chr1:26460028 [GRCh38]
Chr1:26786519 [GRCh37]
Chr1:1p36.11
likely benign
NM_205861.3(DHDDS):c.753T>C (p.His251=) single nucleotide variant Retinitis pigmentosa 59 [RCV002207974] Chr1:26460132 [GRCh38]
Chr1:26786623 [GRCh37]
Chr1:1p36.11
likely benign
NM_205861.3(DHDDS):c.561G>T (p.Leu187=) single nucleotide variant Retinitis pigmentosa 59 [RCV002189855] Chr1:26457809 [GRCh38]
Chr1:26784300 [GRCh37]
Chr1:1p36.11
likely benign
NM_205861.3(DHDDS):c.126G>A (p.Lys42=) single nucleotide variant Retinitis pigmentosa 59 [RCV002169714] Chr1:26438230 [GRCh38]
Chr1:26764721 [GRCh37]
Chr1:1p36.11
likely benign
NM_205861.3(DHDDS):c.750C>T (p.Asn250=) single nucleotide variant Retinitis pigmentosa 59 [RCV002071410] Chr1:26460129 [GRCh38]
Chr1:26786620 [GRCh37]
Chr1:1p36.11
likely benign
NM_205861.3(DHDDS):c.440+14T>G single nucleotide variant Retinitis pigmentosa 59 [RCV002111795] Chr1:26446446 [GRCh38]
Chr1:26772937 [GRCh37]
Chr1:1p36.11
likely benign
NM_205861.3(DHDDS):c.63+13C>T single nucleotide variant Retinitis pigmentosa 59 [RCV002168684] Chr1:26433021 [GRCh38]
Chr1:26759512 [GRCh37]
Chr1:1p36.11
likely benign
NM_205861.3(DHDDS):c.603C>T (p.Asp201=) single nucleotide variant Retinitis pigmentosa 59 [RCV002086436] Chr1:26457851 [GRCh38]
Chr1:26784342 [GRCh37]
Chr1:1p36.11
likely benign
NM_205861.3(DHDDS):c.957C>G (p.Leu319=) single nucleotide variant Retinitis pigmentosa 59 [RCV002106491] Chr1:26469086 [GRCh38]
Chr1:26795577 [GRCh37]
Chr1:1p36.11
likely benign
NM_205861.3(DHDDS):c.646T>C (p.Leu216=) single nucleotide variant Retinitis pigmentosa 59 [RCV002129900] Chr1:26457894 [GRCh38]
Chr1:26784385 [GRCh37]
Chr1:1p36.11
likely benign
NM_205861.3(DHDDS):c.916C>A (p.Arg306=) single nucleotide variant Retinitis pigmentosa 59 [RCV002088645] Chr1:26469045 [GRCh38]
Chr1:26795536 [GRCh37]
Chr1:1p36.11
likely benign
NM_205861.3(DHDDS):c.186G>A (p.Leu62=) single nucleotide variant Retinitis pigmentosa 59 [RCV002210476] Chr1:26442736 [GRCh38]
Chr1:26769227 [GRCh37]
Chr1:1p36.11
likely benign
NM_205861.3(DHDDS):c.323+10T>C single nucleotide variant Retinitis pigmentosa 59 [RCV002169669] Chr1:26442883 [GRCh38]
Chr1:26769374 [GRCh37]
Chr1:1p36.11
likely benign
NM_205861.3(DHDDS):c.6A>G (p.Ser2=) single nucleotide variant Retinitis pigmentosa 59 [RCV002128967] Chr1:26432951 [GRCh38]
Chr1:26759442 [GRCh37]
Chr1:1p36.11
likely benign
NM_205861.3(DHDDS):c.81A>G (p.Lys27=) single nucleotide variant Retinitis pigmentosa 59 [RCV002135137] Chr1:26438185 [GRCh38]
Chr1:26764676 [GRCh37]
Chr1:1p36.11
likely benign
NM_205861.3(DHDDS):c.180+9G>T single nucleotide variant Retinitis pigmentosa 59 [RCV002151254] Chr1:26438293 [GRCh38]
Chr1:26764784 [GRCh37]
Chr1:1p36.11
likely benign
NM_205861.3(DHDDS):c.294G>T (p.Arg98=) single nucleotide variant Retinitis pigmentosa 59 [RCV002193295] Chr1:26442844 [GRCh38]
Chr1:26769335 [GRCh37]
Chr1:1p36.11
likely benign
NM_205861.3(DHDDS):c.855G>A (p.Gly285=) single nucleotide variant Retinitis pigmentosa 59 [RCV002174830] Chr1:26468984 [GRCh38]
Chr1:26795475 [GRCh37]
Chr1:1p36.11
likely benign
NM_205861.3(DHDDS):c.429G>A (p.Lys143=) single nucleotide variant Retinitis pigmentosa 59 [RCV002134716] Chr1:26446421 [GRCh38]
Chr1:26772912 [GRCh37]
Chr1:1p36.11
likely benign
NM_205861.3(DHDDS):c.766-6dup duplication Retinitis pigmentosa 59 [RCV002186933] Chr1:26468888..26468889 [GRCh38]
Chr1:26795379..26795380 [GRCh37]
Chr1:1p36.11
likely benign
NM_205861.3(DHDDS):c.588C>A (p.Arg196=) single nucleotide variant Retinitis pigmentosa 59 [RCV002149194] Chr1:26457836 [GRCh38]
Chr1:26784327 [GRCh37]
Chr1:1p36.11
likely benign
NM_205861.3(DHDDS):c.357G>C (p.Arg119=) single nucleotide variant Retinitis pigmentosa 59 [RCV002080269] Chr1:26446349 [GRCh38]
Chr1:26772840 [GRCh37]
Chr1:1p36.11
likely benign
NM_205861.3(DHDDS):c.63+11del deletion Retinitis pigmentosa 59 [RCV002131633] Chr1:26433018 [GRCh38]
Chr1:26759509 [GRCh37]
Chr1:1p36.11
likely benign
NM_205861.3(DHDDS):c.711T>C (p.Phe237=) single nucleotide variant Retinitis pigmentosa 59 [RCV002114201] Chr1:26460090 [GRCh38]
Chr1:26786581 [GRCh37]
Chr1:1p36.11
likely benign
NM_205861.3(DHDDS):c.658-11A>G single nucleotide variant Retinitis pigmentosa 59 [RCV002194899] Chr1:26460026 [GRCh38]
Chr1:26786517 [GRCh37]
Chr1:1p36.11
likely benign
NM_205861.3(DHDDS):c.789G>A (p.Glu263=) single nucleotide variant Retinitis pigmentosa 59 [RCV002132939] Chr1:26468918 [GRCh38]
Chr1:26795409 [GRCh37]
Chr1:1p36.11
likely benign
NM_205861.3(DHDDS):c.450G>A (p.Leu150=) single nucleotide variant Retinitis pigmentosa 59 [RCV002220530] Chr1:26447568 [GRCh38]
Chr1:26774059 [GRCh37]
Chr1:1p36.11
likely benign
NM_205861.3(DHDDS):c.93C>T (p.Phe31=) single nucleotide variant Retinitis pigmentosa 59 [RCV002201439] Chr1:26438197 [GRCh38]
Chr1:26764688 [GRCh37]
Chr1:1p36.11
likely benign
NM_205861.3(DHDDS):c.309C>T (p.Arg103=) single nucleotide variant Retinitis pigmentosa 59 [RCV002135761] Chr1:26442859 [GRCh38]
Chr1:26769350 [GRCh37]
Chr1:1p36.11
likely benign
NM_205861.3(DHDDS):c.440+20T>C single nucleotide variant Retinitis pigmentosa 59 [RCV002180481] Chr1:26446452 [GRCh38]
Chr1:26772943 [GRCh37]
Chr1:1p36.11
likely benign
NM_205861.3(DHDDS):c.542+16T>C single nucleotide variant Retinitis pigmentosa 59 [RCV002099883] Chr1:26447676 [GRCh38]
Chr1:26774167 [GRCh37]
Chr1:1p36.11
likely benign
NM_205861.3(DHDDS):c.441-18C>A single nucleotide variant Retinitis pigmentosa 59 [RCV002139238] Chr1:26447541 [GRCh38]
Chr1:26774032 [GRCh37]
Chr1:1p36.11
likely benign
NM_205861.3(DHDDS):c.687C>T (p.Pro229=) single nucleotide variant Retinitis pigmentosa 59 [RCV002175474] Chr1:26460066 [GRCh38]
Chr1:26786557 [GRCh37]
Chr1:1p36.11
likely benign
NM_205861.3(DHDDS):c.847C>A (p.Arg283=) single nucleotide variant Retinitis pigmentosa 59 [RCV002163639] Chr1:26468976 [GRCh38]
Chr1:26795467 [GRCh37]
Chr1:1p36.11
likely benign
NM_205861.3(DHDDS):c.846G>T (p.Leu282=) single nucleotide variant Retinitis pigmentosa 59 [RCV002141786] Chr1:26468975 [GRCh38]
Chr1:26795466 [GRCh37]
Chr1:1p36.11
likely benign
NM_205861.3(DHDDS):c.879G>A (p.Gln293=) single nucleotide variant Retinitis pigmentosa 59 [RCV002164053] Chr1:26469008 [GRCh38]
Chr1:26795499 [GRCh37]
Chr1:1p36.11
likely benign
NM_205861.3(DHDDS):c.438C>T (p.Asn146=) single nucleotide variant Retinitis pigmentosa 59 [RCV002221023] Chr1:26446430 [GRCh38]
Chr1:26772921 [GRCh37]
Chr1:1p36.11
likely benign
NM_205861.3(DHDDS):c.621T>C (p.Ser207=) single nucleotide variant Retinitis pigmentosa 59 [RCV002102459] Chr1:26457869 [GRCh38]
Chr1:26784360 [GRCh37]
Chr1:1p36.11
likely benign
NM_205861.3(DHDDS):c.738G>A (p.Gln246=) single nucleotide variant Retinitis pigmentosa 59 [RCV002141142] Chr1:26460117 [GRCh38]
Chr1:26786608 [GRCh37]
Chr1:1p36.11
likely benign
NM_205861.3(DHDDS):c.294G>A (p.Arg98=) single nucleotide variant Retinitis pigmentosa 59 [RCV002161801] Chr1:26442844 [GRCh38]
Chr1:26769335 [GRCh37]
Chr1:1p36.11
likely benign
NM_205861.3(DHDDS):c.766-18C>T single nucleotide variant Retinitis pigmentosa 59 [RCV002217487] Chr1:26468877 [GRCh38]
Chr1:26795368 [GRCh37]
Chr1:1p36.11
likely benign
NM_205861.3(DHDDS):c.808C>T (p.Leu270=) single nucleotide variant Retinitis pigmentosa 59 [RCV002139974] Chr1:26468937 [GRCh38]
Chr1:26795428 [GRCh37]
Chr1:1p36.11
likely benign
NM_205861.3(DHDDS):c.181-7C>T single nucleotide variant Retinitis pigmentosa 59 [RCV002118709] Chr1:26442724 [GRCh38]
Chr1:26769215 [GRCh37]
Chr1:1p36.11
likely benign
NM_205861.3(DHDDS):c.543-8C>G single nucleotide variant Retinitis pigmentosa 59 [RCV002219760] Chr1:26457783 [GRCh38]
Chr1:26784274 [GRCh37]
Chr1:1p36.11
likely benign
NM_205861.3(DHDDS):c.561G>A (p.Leu187=) single nucleotide variant Retinitis pigmentosa 59 [RCV002135622] Chr1:26457809 [GRCh38]
Chr1:26784300 [GRCh37]
Chr1:1p36.11
likely benign
NM_205861.3(DHDDS):c.198G>A (p.Leu66=) single nucleotide variant Retinitis pigmentosa 59 [RCV002183663] Chr1:26442748 [GRCh38]
Chr1:26769239 [GRCh37]
Chr1:1p36.11
likely benign
NM_205861.3(DHDDS):c.138G>A (p.Glu46=) single nucleotide variant Retinitis pigmentosa 59 [RCV002181491] Chr1:26438242 [GRCh38]
Chr1:26764733 [GRCh37]
Chr1:1p36.11
likely benign
NM_205861.3(DHDDS):c.213A>G (p.Leu71=) single nucleotide variant Retinitis pigmentosa 59 [RCV002155162] Chr1:26442763 [GRCh38]
Chr1:26769254 [GRCh37]
Chr1:1p36.11
likely benign
NM_205861.3(DHDDS):c.542+8G>T single nucleotide variant Retinitis pigmentosa 59 [RCV002159300] Chr1:26447668 [GRCh38]
Chr1:26774159 [GRCh37]
Chr1:1p36.11
likely benign
NM_205861.3(DHDDS):c.438C>G (p.Asn146Lys) single nucleotide variant not specified [RCV002247131] Chr1:26446430 [GRCh38]
Chr1:26772921 [GRCh37]
Chr1:1p36.11
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:20603 AgrOrtholog
COSMIC DHDDS COSMIC
Ensembl Genes ENSG00000117682 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000236342 ENTREZGENE
  ENSP00000236342.7 UniProtKB/Swiss-Prot
  ENSP00000353104 ENTREZGENE
  ENSP00000353104.2 UniProtKB/Swiss-Prot
  ENSP00000363300.3 UniProtKB/TrEMBL
  ENSP00000393961.1 UniProtKB/TrEMBL
  ENSP00000397584.1 UniProtKB/TrEMBL
  ENSP00000399177.2 UniProtKB/TrEMBL
  ENSP00000399781.1 UniProtKB/TrEMBL
  ENSP00000403529.2 UniProtKB/TrEMBL
  ENSP00000405604.2 UniProtKB/TrEMBL
  ENSP00000431407.1 UniProtKB/TrEMBL
  ENSP00000433491.1 UniProtKB/TrEMBL
  ENSP00000433976.1 UniProtKB/TrEMBL
  ENSP00000434185.1 UniProtKB/TrEMBL
  ENSP00000434219 ENTREZGENE
  ENSP00000434219.1 UniProtKB/Swiss-Prot
  ENSP00000434984 ENTREZGENE
  ENSP00000434984.1 UniProtKB/Swiss-Prot
  ENSP00000436119.1 UniProtKB/TrEMBL
  ENSP00000436764.1 UniProtKB/TrEMBL
Ensembl Transcript ENST00000236342 ENTREZGENE
  ENST00000236342.12 UniProtKB/Swiss-Prot
  ENST00000360009 ENTREZGENE
  ENST00000360009.6 UniProtKB/Swiss-Prot
  ENST00000374185.7 UniProtKB/TrEMBL
  ENST00000416052.1 UniProtKB/TrEMBL
  ENST00000427245.6 UniProtKB/TrEMBL
  ENST00000430232.5 UniProtKB/TrEMBL
  ENST00000431933.5 UniProtKB/TrEMBL
  ENST00000434391.6 UniProtKB/TrEMBL
  ENST00000436153.6 UniProtKB/TrEMBL
  ENST00000525165.5 UniProtKB/TrEMBL
  ENST00000525326.5 UniProtKB/TrEMBL
  ENST00000525546.5 UniProtKB/TrEMBL
  ENST00000525682 ENTREZGENE
  ENST00000525682.6 UniProtKB/Swiss-Prot
  ENST00000526219 ENTREZGENE
  ENST00000526219.5 UniProtKB/Swiss-Prot
  ENST00000530781.5 UniProtKB/TrEMBL
  ENST00000531312.5 UniProtKB/TrEMBL
  ENST00000533087.5 UniProtKB/TrEMBL
Gene3D-CATH 3.40.1180.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000117682 GTEx
HGNC ID HGNC:20603 ENTREZGENE
Human Proteome Map DHDDS Human Proteome Map
InterPro UPP_synth-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  UPP_synth-like_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  UPP_synth-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:79947 UniProtKB/Swiss-Prot
NCBI Gene 79947 ENTREZGENE
OMIM 608172 OMIM
  613861 OMIM
  617836 OMIM
PANTHER PTHR10291 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Prenyltransf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134867119 PharmGKB
PROSITE UPP_SYNTHASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF64005 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
TIGRFAMs uppS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt DHDDS_HUMAN UniProtKB/Swiss-Prot
  E9PI09_HUMAN UniProtKB/TrEMBL
  E9PI64_HUMAN UniProtKB/TrEMBL
  E9PKJ5_HUMAN UniProtKB/TrEMBL
  E9PL99_HUMAN UniProtKB/TrEMBL
  E9PR24_HUMAN UniProtKB/TrEMBL
  E9PRS7_HUMAN UniProtKB/TrEMBL
  E9PSH7_HUMAN UniProtKB/TrEMBL
  H0Y4T1_HUMAN UniProtKB/TrEMBL
  Q5T0A0_HUMAN UniProtKB/TrEMBL
  Q5T0A1_HUMAN UniProtKB/TrEMBL
  Q5T0A2_HUMAN UniProtKB/TrEMBL
  Q5T0A3_HUMAN UniProtKB/TrEMBL
  Q5T0A6_HUMAN UniProtKB/TrEMBL
  Q86SQ9 ENTREZGENE
UniProt Secondary B7Z4B9 UniProtKB/Swiss-Prot
  B7ZB20 UniProtKB/Swiss-Prot
  D3DPK7 UniProtKB/Swiss-Prot
  D3DPK8 UniProtKB/Swiss-Prot
  D3DPK9 UniProtKB/Swiss-Prot
  E9KL43 UniProtKB/Swiss-Prot
  Q5T0A4 UniProtKB/Swiss-Prot
  Q8NE90 UniProtKB/Swiss-Prot
  Q9BTG5 UniProtKB/Swiss-Prot
  Q9BTK3 UniProtKB/Swiss-Prot
  Q9H905 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-06-30 DHDDS  dehydrodolichyl diphosphate synthase subunit    dehydrodolichyl diphosphate synthase  Symbol and/or name change 5135510 APPROVED
2011-09-01 DHDDS  dehydrodolichyl diphosphate synthase  DHDDS  dehydrodolichyl diphosphate synthase  Symbol and/or name change 5135510 APPROVED