RDH11 (retinol dehydrogenase 11) - Rat Genome Database

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Gene: RDH11 (retinol dehydrogenase 11) Homo sapiens
Analyze
Symbol: RDH11
Name: retinol dehydrogenase 11
RGD ID: 1323753
HGNC Page HGNC:17964
Description: Enables all-trans-retinol dehydrogenase (NADP+) activity. Involved in cellular detoxification of aldehyde and retinoid metabolic process. Acts upstream of or within retinal metabolic process. Located in endoplasmic reticulum membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: androgen-regulated short-chain dehydrogenase/reductase 1; ARSDR1; CGI-82; CGI82; FLJ32633; HCBP12; HCV core-binding protein HCBP12; MDT1; prostate short-chain dehydrogenase reductase 1; prostate short-chain dehydrogenase/reductase 1; PSDR1; RALR1; RDJCSS; retinal reductase 1; retinol dehydrogenase 11 (all-trans and 9-cis); retinol dehydrogenase 11 (all-trans/9-cis/11-cis); SCALD; SDR7C1; short chain dehydrogenase/reductase family 7C member 1; short chain dehydrogenase/reductase family 7C, member 1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381467,676,800 - 67,695,764 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1467,676,800 - 67,695,793 (-)EnsemblGRCh38hg38GRCh38
GRCh371468,143,517 - 68,162,481 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361467,213,270 - 67,232,213 (-)NCBINCBI36Build 36hg18NCBI36
Build 341467,213,270 - 67,232,213NCBI
Celera1448,202,560 - 48,221,552 (-)NCBICelera
Cytogenetic Map14q24.1NCBI
HuRef1448,313,196 - 48,332,190 (-)NCBIHuRef
CHM1_11468,082,296 - 68,101,280 (-)NCBICHM1_1
T2T-CHM13v2.01461,883,919 - 61,902,884 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-hydroxy-17-methylestra-4,9,11-trien-3-one  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dinitrotoluene  (ISO)
2,6-dinitrotoluene  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
4-hydroxyphenyl retinamide  (ISO)
acetamide  (ISO)
acrylamide  (ISO)
aflatoxin B1  (EXP,ISO)
all-trans-retinol  (ISO)
Aroclor 1254  (ISO)
benzo[a]pyrene  (ISO)
benzo[a]pyrene diol epoxide I  (EXP)
beta-naphthoflavone  (ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
bortezomib  (EXP)
buspirone  (ISO)
carbon nanotube  (ISO)
CGP 52608  (EXP)
chloropicrin  (EXP)
cisplatin  (EXP)
cobalt dichloride  (EXP)
copper(II) sulfate  (EXP)
crocidolite asbestos  (ISO)
cyclosporin A  (EXP)
Dibutyl phosphate  (EXP)
dioxygen  (ISO)
doxorubicin  (EXP)
elemental selenium  (EXP)
epoxiconazole  (ISO)
ethanol  (ISO)
fluoranthene  (ISO)
folic acid  (ISO)
haloperidol  (EXP)
Heptachlor epoxide  (ISO)
hydrazine  (ISO)
indometacin  (ISO)
inulin  (ISO)
isotretinoin  (EXP)
ivermectin  (EXP)
lead(0)  (EXP)
lipopolysaccharide  (ISO)
methyl methanesulfonate  (EXP)
methylparaben  (EXP)
methylseleninic acid  (EXP)
NADP zwitterion  (EXP)
NADP(+)  (EXP)
nefazodone  (ISO)
nickel sulfate  (EXP)
nimesulide  (ISO)
ozone  (EXP)
paracetamol  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
phosgene  (ISO)
pirinixic acid  (ISO)
piroxicam  (EXP)
pravastatin  (ISO)
resveratrol  (ISO)
SB 431542  (EXP)
selenium atom  (EXP)
silicon dioxide  (ISO)
sodium fluoride  (ISO)
sunitinib  (EXP)
testosterone  (ISO)
tetrachloromethane  (ISO)
thiram  (EXP)
triphenyl phosphate  (EXP)
Triptolide  (ISO)
valproic acid  (EXP,ISO)
zaragozic acid A  (ISO)

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
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Key enzymes of the retinoid (visual) cycle in vertebrate retina. Kiser PD, etal., Biochim Biophys Acta. 2012 Jan;1821(1):137-51. Epub 2011 Apr 5.
3. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
4. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
5. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
6. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
7. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:8018917   PMID:10810093   PMID:11245473   PMID:12036956   PMID:12226107   PMID:12477932   PMID:12532453   PMID:12807874   PMID:14674758   PMID:14702039   PMID:15489334   PMID:15583024  
PMID:16009940   PMID:16303743   PMID:17207965   PMID:17249616   PMID:17286855   PMID:18295589   PMID:19027726   PMID:21873635   PMID:21900206   PMID:22810586   PMID:23874603   PMID:24916380  
PMID:25542782   PMID:25829192   PMID:25921289   PMID:25959826   PMID:26186194   PMID:26871637   PMID:27173435   PMID:27499296   PMID:28380382   PMID:28514442   PMID:28611215   PMID:29180619  
PMID:29410696   PMID:29467282   PMID:29955894   PMID:30021884   PMID:30833792   PMID:30884312   PMID:30948266   PMID:31056421   PMID:31073040   PMID:31091453   PMID:31324722   PMID:31586073  
PMID:31871319   PMID:31980649   PMID:32296183   PMID:32687490   PMID:33742100   PMID:33961781   PMID:34079125   PMID:34709727   PMID:35032548   PMID:35271311   PMID:35439318   PMID:35575683  
PMID:35906200   PMID:35944360   PMID:35993436   PMID:36042349   PMID:36057605   PMID:36180527   PMID:36215168   PMID:36575184   PMID:36610398   PMID:37120454   PMID:37314216   PMID:37536630  
PMID:37827155   PMID:38334954   PMID:38496616   PMID:38569033   PMID:39147351  


Genomics

Comparative Map Data
RDH11
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381467,676,800 - 67,695,764 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1467,676,800 - 67,695,793 (-)EnsemblGRCh38hg38GRCh38
GRCh371468,143,517 - 68,162,481 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361467,213,270 - 67,232,213 (-)NCBINCBI36Build 36hg18NCBI36
Build 341467,213,270 - 67,232,213NCBI
Celera1448,202,560 - 48,221,552 (-)NCBICelera
Cytogenetic Map14q24.1NCBI
HuRef1448,313,196 - 48,332,190 (-)NCBIHuRef
CHM1_11468,082,296 - 68,101,280 (-)NCBICHM1_1
T2T-CHM13v2.01461,883,919 - 61,902,884 (-)NCBIT2T-CHM13v2.0
Rdh11
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391279,221,007 - 79,238,629 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1279,221,111 - 79,239,067 (-)EnsemblGRCm39 Ensembl
GRCm381279,174,233 - 79,191,855 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1279,174,337 - 79,192,293 (-)EnsemblGRCm38mm10GRCm38
MGSCv371280,276,538 - 80,292,806 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361280,093,177 - 80,111,133 (-)NCBIMGSCv36mm8
Celera1280,639,993 - 80,656,287 (-)NCBICelera
Cytogenetic Map12C3NCBI
cM Map1235.51NCBI
Rdh11
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr86103,712,373 - 103,728,247 (-)NCBIGRCr8
mRatBN7.2697,979,377 - 97,995,252 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl697,979,378 - 97,995,252 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx698,408,844 - 98,424,717 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0698,707,987 - 98,723,860 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0698,094,123 - 98,109,999 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.06102,356,498 - 102,372,618 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl6102,356,492 - 102,372,611 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.06115,043,172 - 115,059,292 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.46101,946,431 - 101,962,606 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.16101,949,887 - 101,966,062 (-)NCBI
Celera696,364,396 - 96,380,270 (-)NCBICelera
Cytogenetic Map6q24NCBI
Rdh11
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554662,508,338 - 2,520,903 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554662,506,641 - 2,521,506 (+)NCBIChiLan1.0ChiLan1.0
RDH11
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21568,787,353 - 68,806,240 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11468,003,865 - 68,022,747 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01448,256,951 - 48,275,831 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11467,135,366 - 67,154,286 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1467,135,366 - 67,154,286 (-)Ensemblpanpan1.1panPan2
RDH11
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1841,651,970 - 41,669,661 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl841,614,921 - 41,669,576 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha841,343,458 - 41,360,794 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0841,881,101 - 41,898,645 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl841,880,751 - 41,898,155 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1841,497,981 - 41,515,586 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0841,571,395 - 41,588,996 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0841,930,720 - 41,948,404 (-)NCBIUU_Cfam_GSD_1.0
Rdh11
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440864063,109,203 - 63,126,479 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493649511,066,660 - 11,082,044 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493649511,065,946 - 11,082,104 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
RDH11
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl791,415,042 - 91,452,405 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1791,415,041 - 91,452,530 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2797,722,352 - 97,759,843 (-)NCBISscrofa10.2Sscrofa10.2susScr3
RDH11
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12444,911,830 - 44,932,632 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2444,909,001 - 44,932,611 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605333,141,721 - 33,161,946 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Rdh11
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473433,283,497 - 33,295,091 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473433,283,336 - 33,295,797 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in RDH11
193 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_016026.3(RDH11):c.751T>G (p.Trp251Gly) single nucleotide variant Malignant melanoma [RCV000070582] Chr14:67685118 [GRCh38]
Chr14:68151835 [GRCh37]
Chr14:67221588 [NCBI36]
Chr14:14q24.1		 not provided
NM_016026.4(RDH11):c.721C>T (p.Arg241Trp) single nucleotide variant not provided [RCV001367896]|not specified [RCV004671374] Chr14:67685148 [GRCh38]
Chr14:68151865 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_016026.4(RDH11):c.199C>T (p.Arg67Ter) single nucleotide variant Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome [RCV000148296]|not provided [RCV001320971] Chr14:67692588 [GRCh38]
Chr14:68159305 [GRCh37]
Chr14:14q24.1		 pathogenic|uncertain significance|not provided
NM_016026.4(RDH11):c.322C>T (p.Arg108Ter) single nucleotide variant Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome [RCV000148297]|not provided [RCV001302099] Chr14:67692465 [GRCh38]
Chr14:68159182 [GRCh37]
Chr14:14q24.1		 pathogenic|uncertain significance
NM_016026.4(RDH11):c.645A>T (p.Glu215Asp) single nucleotide variant not provided [RCV001349181]|not specified [RCV004036575] Chr14:67690231 [GRCh38]
Chr14:68156948 [GRCh37]
Chr14:14q24.1		 uncertain significance
GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3 copy number gain See cases [RCV000135543] Chr14:20151149..106855263 [GRCh38]
Chr14:20619308..107263478 [GRCh37]
Chr14:19689148..106334523 [NCBI36]
Chr14:14q11.2-32.33		 pathogenic
GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3 copy number gain See cases [RCV000143373] Chr14:20043514..106877229 [GRCh38]
Chr14:20511673..107285437 [GRCh37]
Chr14:19581513..106356482 [NCBI36]
Chr14:14q11.2-32.33		 pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3 copy number gain See cases [RCV000446256] Chr14:19794561..107234280 [GRCh37]
Chr14:14q11.2-32.33		 pathogenic
GRCh37/hg19 14q23.2-32.33(chr14:62493932-107285437)x3 copy number gain See cases [RCV000448557] Chr14:62493932..107285437 [GRCh37]
Chr14:14q23.2-32.33		 pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437) copy number gain See cases [RCV000512041] Chr14:20511673..107285437 [GRCh37]
Chr14:14q11.2-32.33		 pathogenic
GRCh37/hg19 14q24.1-24.2(chr14:68035240-73568130)x1 copy number loss See cases [RCV000512344] Chr14:68035240..73568130 [GRCh37]
Chr14:14q24.1-24.2		 likely pathogenic
GRCh37/hg19 14q11.1-32.33(chr14:19000422-107289053)x3 copy number gain not provided [RCV000738412] Chr14:19000422..107289053 [GRCh37]
Chr14:14q11.1-32.33		 pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19280733-107287663)x3 copy number gain not provided [RCV000738413] Chr14:19280733..107287663 [GRCh37]
Chr14:14q11.2-32.33		 pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19327823-107287663)x3 copy number gain not provided [RCV000738414] Chr14:19327823..107287663 [GRCh37]
Chr14:14q11.2-32.33		 pathogenic
NM_016026.4(RDH11):c.456T>G (p.Gly152=) single nucleotide variant not provided [RCV000973042] Chr14:67690420 [GRCh38]
Chr14:68157137 [GRCh37]
Chr14:14q24.1		 likely benign
NM_016026.4(RDH11):c.921C>T (p.Asp307=) single nucleotide variant RDH11-related disorder [RCV003930831]|not provided [RCV000892708] Chr14:67678357 [GRCh38]
Chr14:68145074 [GRCh37]
Chr14:14q24.1		 benign|likely benign
NM_016026.4(RDH11):c.678G>A (p.Thr226=) single nucleotide variant not provided [RCV000924444] Chr14:67685191 [GRCh38]
Chr14:68151908 [GRCh37]
Chr14:14q24.1		 likely benign
NM_016026.4(RDH11):c.407C>T (p.Ser136Leu) single nucleotide variant not provided [RCV000881394] Chr14:67691187 [GRCh38]
Chr14:68157904 [GRCh37]
Chr14:14q24.1		 likely benign
NM_016026.4(RDH11):c.350-4G>T single nucleotide variant not provided [RCV000940846] Chr14:67691248 [GRCh38]
Chr14:68157965 [GRCh37]
Chr14:14q24.1		 likely benign
NM_016026.4(RDH11):c.350-10G>A single nucleotide variant not provided [RCV000974579]|not specified [RCV001700961] Chr14:67691254 [GRCh38]
Chr14:68157971 [GRCh37]
Chr14:14q24.1		 benign|likely benign
GRCh37/hg19 14q24.1(chr14:68130744-68275342)x3 copy number gain not provided [RCV000848866] Chr14:68130744..68275342 [GRCh37]
Chr14:14q24.1		 uncertain significance
GRCh37/hg19 14q24.1(chr14:68148448-69073242)x3 copy number gain not provided [RCV000848251] Chr14:68148448..69073242 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_016026.4(RDH11):c.790G>T (p.Ala264Ser) single nucleotide variant not provided [RCV001058272] Chr14:67685079 [GRCh38]
Chr14:68151796 [GRCh37]
Chr14:14q24.1		 uncertain significance
GRCh37/hg19 14q24.1(chr14:68126321-68269053)x3 copy number gain Blepharophimosis [RCV000787291] Chr14:68126321..68269053 [GRCh37]
Chr14:14q24.1		 uncertain significance
GRCh37/hg19 14q24.1(chr14:68149933-68176159)x1 copy number loss not provided [RCV000846430] Chr14:68149933..68176159 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_016026.4(RDH11):c.856G>A (p.Asp286Asn) single nucleotide variant not provided [RCV001248728] Chr14:67678422 [GRCh38]
Chr14:68145139 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_016026.4(RDH11):c.14T>C (p.Met5Thr) single nucleotide variant not provided [RCV001242061] Chr14:67695690 [GRCh38]
Chr14:68162407 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_016026.4(RDH11):c.523G>A (p.Val175Met) single nucleotide variant not provided [RCV001239503] Chr14:67690353 [GRCh38]
Chr14:68157070 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_016026.4(RDH11):c.336G>C (p.Lys112Asn) single nucleotide variant not provided [RCV001226898] Chr14:67692451 [GRCh38]
Chr14:68159168 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_016026.4(RDH11):c.380A>G (p.Asn127Ser) single nucleotide variant not provided [RCV001207484] Chr14:67691214 [GRCh38]
Chr14:68157931 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_016026.4(RDH11):c.264G>A (p.Thr88=) single nucleotide variant not provided [RCV000883140]|not specified [RCV001701467] Chr14:67692523 [GRCh38]
Chr14:68159240 [GRCh37]
Chr14:14q24.1		 benign|likely benign
NM_016026.4(RDH11):c.628A>G (p.Ile210Val) single nucleotide variant RDH11-related disorder [RCV003902966]|not provided [RCV000917260] Chr14:67690248 [GRCh38]
Chr14:68156965 [GRCh37]
Chr14:14q24.1		 likely benign
NM_016026.4(RDH11):c.747G>A (p.Met249Ile) single nucleotide variant not provided [RCV001235745]|not specified [RCV004033289] Chr14:67685122 [GRCh38]
Chr14:68151839 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_016026.4(RDH11):c.340T>C (p.Phe114Leu) single nucleotide variant not provided [RCV001226242] Chr14:67692447 [GRCh38]
Chr14:68159164 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_016026.4(RDH11):c.863_864del (p.His288fs) deletion not provided [RCV001244163] Chr14:67678414..67678415 [GRCh38]
Chr14:68145131..68145132 [GRCh37]
Chr14:14q24.1		 uncertain significance
GRCh37/hg19 14q24.1(chr14:68037409-68278365)x3 copy number gain not provided [RCV001006647] Chr14:68037409..68278365 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_016026.4(RDH11):c.572A>G (p.Gln191Arg) single nucleotide variant not provided [RCV001217394]|not specified [RCV004034031] Chr14:67690304 [GRCh38]
Chr14:68157021 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_016026.4(RDH11):c.41C>G (p.Pro14Arg) single nucleotide variant not provided [RCV001212316] Chr14:67695663 [GRCh38]
Chr14:68162380 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_016026.4(RDH11):c.175A>G (p.Lys59Glu) single nucleotide variant not provided [RCV001041592] Chr14:67692952 [GRCh38]
Chr14:68159669 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_016026.4(RDH11):c.709T>C (p.Ser237Pro) single nucleotide variant not provided [RCV001233119] Chr14:67685160 [GRCh38]
Chr14:68151877 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_016026.4(RDH11):c.922G>A (p.Val308Ile) single nucleotide variant not provided [RCV001035835] Chr14:67678356 [GRCh38]
Chr14:68145073 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_016026.4(RDH11):c.215G>C (p.Cys72Ser) single nucleotide variant not provided [RCV001207913] Chr14:67692572 [GRCh38]
Chr14:68159289 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_016026.4(RDH11):c.484G>T (p.Glu162Ter) single nucleotide variant not provided [RCV001045187] Chr14:67690392 [GRCh38]
Chr14:68157109 [GRCh37]
Chr14:14q24.1		 pathogenic|uncertain significance
NM_016026.4(RDH11):c.576C>T (p.Gly192=) single nucleotide variant not provided [RCV001231925] Chr14:67690300 [GRCh38]
Chr14:68157017 [GRCh37]
Chr14:14q24.1		 uncertain significance
GRCh37/hg19 14q23.3-24.1(chr14:67331167-68451970)x3 copy number gain not provided [RCV001006646] Chr14:67331167..68451970 [GRCh37]
Chr14:14q23.3-24.1		 uncertain significance
NM_016026.4(RDH11):c.32T>C (p.Leu11Pro) single nucleotide variant not provided [RCV001230422] Chr14:67695672 [GRCh38]
Chr14:68162389 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_016026.4(RDH11):c.401C>T (p.Pro134Leu) single nucleotide variant not provided [RCV001248393] Chr14:67691193 [GRCh38]
Chr14:68157910 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_016026.4(RDH11):c.847C>A (p.His283Asn) single nucleotide variant Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome [RCV001330701] Chr14:67685022 [GRCh38]
Chr14:68151739 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_016026.4(RDH11):c.121G>A (p.Gly41Arg) single nucleotide variant not provided [RCV001342050]|not specified [RCV004035981] Chr14:67693006 [GRCh38]
Chr14:68159723 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_016026.4(RDH11):c.517G>A (p.Val173Ile) single nucleotide variant not provided [RCV001351412] Chr14:67690359 [GRCh38]
Chr14:68157076 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_016026.4(RDH11):c.673G>A (p.Val225Ile) single nucleotide variant not provided [RCV001312671] Chr14:67685196 [GRCh38]
Chr14:68151913 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_016026.4(RDH11):c.729dup (p.Ser244fs) duplication not provided [RCV001309944] Chr14:67685139..67685140 [GRCh38]
Chr14:68151856..68151857 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_016026.4(RDH11):c.386G>A (p.Gly129Glu) single nucleotide variant not provided [RCV001319202] Chr14:67691208 [GRCh38]
Chr14:68157925 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_016026.4(RDH11):c.454+2T>A single nucleotide variant not provided [RCV001825284] Chr14:67691138 [GRCh38]
Chr14:68157855 [GRCh37]
Chr14:14q24.1		 pathogenic|not provided
NC_000014.8:g.(?_65937790)_(68354021_?)dup duplication Leber congenital amaurosis 13 [RCV001341311]|not provided [RCV001314756] Chr14:65937790..68354021 [GRCh37]
Chr14:14q23.3-24.1		 uncertain significance|no classifications from unflagged records
NM_016026.4(RDH11):c.350-18A>G single nucleotide variant not provided [RCV001392544] Chr14:67691262 [GRCh38]
Chr14:68157979 [GRCh37]
Chr14:14q24.1		 likely benign
NM_016026.4(RDH11):c.402G>A (p.Pro134=) single nucleotide variant not provided [RCV001392547] Chr14:67691192 [GRCh38]
Chr14:68157909 [GRCh37]
Chr14:14q24.1		 likely benign
NM_016026.4(RDH11):c.46C>G (p.Leu16Val) single nucleotide variant not provided [RCV001360476]|not specified [RCV004036765] Chr14:67695658 [GRCh38]
Chr14:68162375 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_016026.4(RDH11):c.368T>C (p.Val123Ala) single nucleotide variant not provided [RCV001297425] Chr14:67691226 [GRCh38]
Chr14:68157943 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_016026.4(RDH11):c.455-7T>G single nucleotide variant not provided [RCV001347138] Chr14:67690428 [GRCh38]
Chr14:68157145 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_016026.4(RDH11):c.372G>C (p.Leu124Phe) single nucleotide variant not provided [RCV001345296] Chr14:67691222 [GRCh38]
Chr14:68157939 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_016026.4(RDH11):c.361C>T (p.Leu121Phe) single nucleotide variant not provided [RCV001352507] Chr14:67691233 [GRCh38]
Chr14:68157950 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_016026.4(RDH11):c.949A>G (p.Ile317Val) single nucleotide variant not provided [RCV001347883] Chr14:67678329 [GRCh38]
Chr14:68145046 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_016026.4(RDH11):c.373A>G (p.Ile125Val) single nucleotide variant not provided [RCV001363915] Chr14:67691221 [GRCh38]
Chr14:68157938 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_016026.4(RDH11):c.839G>A (p.Ser280Asn) single nucleotide variant not provided [RCV001305312] Chr14:67685030 [GRCh38]
Chr14:68151747 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_016026.4(RDH11):c.905C>T (p.Ala302Val) single nucleotide variant not provided [RCV001308511] Chr14:67678373 [GRCh38]
Chr14:68145090 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_016026.4(RDH11):c.395T>C (p.Met132Thr) single nucleotide variant not provided [RCV001326818] Chr14:67691199 [GRCh38]
Chr14:68157916 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_016026.4(RDH11):c.598C>G (p.Leu200Val) single nucleotide variant not provided [RCV001366013]|not specified [RCV004036961] Chr14:67690278 [GRCh38]
Chr14:68156995 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_016026.4(RDH11):c.171A>G (p.Thr57=) single nucleotide variant not provided [RCV001458534] Chr14:67692956 [GRCh38]
Chr14:68159673 [GRCh37]
Chr14:14q24.1		 likely benign
NM_016026.4(RDH11):c.894T>C (p.Asn298=) single nucleotide variant not provided [RCV001488754] Chr14:67678384 [GRCh38]
Chr14:68145101 [GRCh37]
Chr14:14q24.1		 likely benign
NM_016026.4(RDH11):c.534C>T (p.Leu178=) single nucleotide variant not provided [RCV001476908] Chr14:67690342 [GRCh38]
Chr14:68157059 [GRCh37]
Chr14:14q24.1		 likely benign
GRCh37/hg19 14q22.2-24.3(chr14:54654001-75828024)x3 copy number gain 14q22.2q24.3 duplication [RCV001506967] Chr14:54654001..75828024 [GRCh37]
Chr14:14q22.2-24.3		 likely pathogenic
NM_016026.4(RDH11):c.194-8G>T single nucleotide variant not provided [RCV001455864] Chr14:67692601 [GRCh38]
Chr14:68159318 [GRCh37]
Chr14:14q24.1		 likely benign
NM_016026.4(RDH11):c.267A>T (p.Thr89=) single nucleotide variant RDH11-related disorder [RCV003963297]|not provided [RCV001409343] Chr14:67692520 [GRCh38]
Chr14:68159237 [GRCh37]
Chr14:14q24.1		 likely benign
NM_016026.4(RDH11):c.483A>G (p.Leu161=) single nucleotide variant not provided [RCV001412214] Chr14:67690393 [GRCh38]
Chr14:68157110 [GRCh37]
Chr14:14q24.1		 likely benign
NM_016026.4(RDH11):c.230del (p.Lys77fs) deletion not provided [RCV001387586] Chr14:67692557 [GRCh38]
Chr14:68159274 [GRCh37]
Chr14:14q24.1		 pathogenic
NM_016026.4(RDH11):c.350-4G>A single nucleotide variant not provided [RCV001442025] Chr14:67691248 [GRCh38]
Chr14:68157965 [GRCh37]
Chr14:14q24.1		 likely benign
NM_016026.4(RDH11):c.854+8T>A single nucleotide variant not provided [RCV001429449] Chr14:67685007 [GRCh38]
Chr14:68151724 [GRCh37]
Chr14:14q24.1		 likely benign
NM_016026.4(RDH11):c.129A>G (p.Val43=) single nucleotide variant not provided [RCV001494819] Chr14:67692998 [GRCh38]
Chr14:68159715 [GRCh37]
Chr14:14q24.1		 likely benign
NM_016026.4(RDH11):c.455-14G>C single nucleotide variant not provided [RCV001520338] Chr14:67690435 [GRCh38]
Chr14:68157152 [GRCh37]
Chr14:14q24.1		 benign
NM_016026.4(RDH11):c.219G>C (p.Arg73=) single nucleotide variant not provided [RCV001469045] Chr14:67692568 [GRCh38]
Chr14:68159285 [GRCh37]
Chr14:14q24.1		 likely benign
NM_016026.4(RDH11):c.618G>A (p.Lys206=) single nucleotide variant not provided [RCV001469058] Chr14:67690258 [GRCh38]
Chr14:68156975 [GRCh37]
Chr14:14q24.1		 likely benign
NM_016026.4(RDH11):c.235G>A (p.Glu79Lys) single nucleotide variant not provided [RCV001510698] Chr14:67692552 [GRCh38]
Chr14:68159269 [GRCh37]
Chr14:14q24.1		 benign
NM_016026.4(RDH11):c.831G>A (p.Glu277=) single nucleotide variant not provided [RCV001483548] Chr14:67685038 [GRCh38]
Chr14:68151755 [GRCh37]
Chr14:14q24.1		 likely benign
NM_016026.4(RDH11):c.665-7del deletion not provided [RCV001521962] Chr14:67685211 [GRCh38]
Chr14:68151928 [GRCh37]
Chr14:14q24.1		 benign
NM_016026.4(RDH11):c.74+20C>G single nucleotide variant not provided [RCV001513214] Chr14:67695610 [GRCh38]
Chr14:68162327 [GRCh37]
Chr14:14q24.1		 benign
NM_016026.4(RDH11):c.722G>A (p.Arg241Gln) single nucleotide variant not provided [RCV001489918] Chr14:67685147 [GRCh38]
Chr14:68151864 [GRCh37]
Chr14:14q24.1		 likely benign
NM_016026.4(RDH11):c.12C>T (p.Leu4=) single nucleotide variant not provided [RCV001506940] Chr14:67695692 [GRCh38]
Chr14:68162409 [GRCh37]
Chr14:14q24.1		 likely benign
NM_016026.4(RDH11):c.133G>A (p.Val45Met) single nucleotide variant RDH11-related disorder [RCV004731208]|not provided [RCV001950369] Chr14:67692994 [GRCh38]
Chr14:68159711 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_016026.4(RDH11):c.716T>G (p.Leu239Arg) single nucleotide variant not provided [RCV001988146] Chr14:67685153 [GRCh38]
Chr14:68151870 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_016026.4(RDH11):c.260C>T (p.Thr87Ile) single nucleotide variant not provided [RCV002022136] Chr14:67692527 [GRCh38]
Chr14:68159244 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_016026.4(RDH11):c.69A>C (p.Gln23His) single nucleotide variant not provided [RCV001964691] Chr14:67695635 [GRCh38]
Chr14:68162352 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_016026.4(RDH11):c.605A>G (p.Tyr202Cys) single nucleotide variant not provided [RCV002025138] Chr14:67690271 [GRCh38]
Chr14:68156988 [GRCh37]
Chr14:14q24.1		 uncertain significance
GRCh37/hg19 14q23.3-24.1(chr14:67443801-68153682) copy number gain not specified [RCV002053109] Chr14:67443801..68153682 [GRCh37]
Chr14:14q23.3-24.1		 uncertain significance
NM_016026.4(RDH11):c.305C>G (p.Ser102Cys) single nucleotide variant not provided [RCV002041055] Chr14:67692482 [GRCh38]
Chr14:68159199 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_016026.4(RDH11):c.425T>C (p.Phe142Ser) single nucleotide variant not provided [RCV001928832] Chr14:67691169 [GRCh38]
Chr14:68157886 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_016026.4(RDH11):c.673G>C (p.Val225Leu) single nucleotide variant not provided [RCV001895328] Chr14:67685196 [GRCh38]
Chr14:68151913 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_016026.4(RDH11):c.577G>A (p.Glu193Lys) single nucleotide variant not provided [RCV001983841] Chr14:67690299 [GRCh38]
Chr14:68157016 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_016026.4(RDH11):c.290G>A (p.Arg97Gln) single nucleotide variant not provided [RCV002023944] Chr14:67692497 [GRCh38]
Chr14:68159214 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_016026.4(RDH11):c.91G>A (p.Gly31Arg) single nucleotide variant not provided [RCV002039563] Chr14:67693036 [GRCh38]
Chr14:68159753 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_016026.4(RDH11):c.323G>A (p.Arg108Gln) single nucleotide variant not provided [RCV002037050]|not specified [RCV004044905] Chr14:67692464 [GRCh38]
Chr14:68159181 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_016026.4(RDH11):c.193+20A>G single nucleotide variant not provided [RCV002017655] Chr14:67692914 [GRCh38]
Chr14:68159631 [GRCh37]
Chr14:14q24.1		 likely benign|uncertain significance
NM_016026.4(RDH11):c.237dup (p.Leu80fs) duplication not provided [RCV001941126] Chr14:67692549..67692550 [GRCh38]
Chr14:68159266..68159267 [GRCh37]
Chr14:14q24.1		 pathogenic
NM_016026.4(RDH11):c.457C>G (p.His153Asp) single nucleotide variant not provided [RCV001963365] Chr14:67690419 [GRCh38]
Chr14:68157136 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_016026.4(RDH11):c.200G>A (p.Arg67Gln) single nucleotide variant not provided [RCV001886706] Chr14:67692587 [GRCh38]
Chr14:68159304 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_016026.4(RDH11):c.334A>G (p.Lys112Glu) single nucleotide variant not provided [RCV001989055] Chr14:67692453 [GRCh38]
Chr14:68159170 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_016026.4(RDH11):c.50T>C (p.Leu17Pro) single nucleotide variant not provided [RCV002019078] Chr14:67695654 [GRCh38]
Chr14:68162371 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_016026.4(RDH11):c.854+5G>A single nucleotide variant not provided [RCV001887922] Chr14:67685010 [GRCh38]
Chr14:68151727 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_016026.4(RDH11):c.436A>G (p.Ile146Val) single nucleotide variant not provided [RCV001963552]|not specified [RCV004044531] Chr14:67691158 [GRCh38]
Chr14:68157875 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_016026.4(RDH11):c.933C>A (p.Asp311Glu) single nucleotide variant not provided [RCV001888393] Chr14:67678345 [GRCh38]
Chr14:68145062 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_016026.4(RDH11):c.455G>A (p.Gly152Asp) single nucleotide variant not provided [RCV001973914]|not specified [RCV004042285] Chr14:67690421 [GRCh38]
Chr14:68157138 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_016026.4(RDH11):c.345A>C (p.Leu115Phe) single nucleotide variant not provided [RCV002047394] Chr14:67692442 [GRCh38]
Chr14:68159159 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_016026.4(RDH11):c.208T>G (p.Leu70Val) single nucleotide variant not provided [RCV002027652] Chr14:67692579 [GRCh38]
Chr14:68159296 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_016026.4(RDH11):c.854G>A (p.Ser285Asn) single nucleotide variant not provided [RCV002050414] Chr14:67685015 [GRCh38]
Chr14:68151732 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_016026.4(RDH11):c.542A>G (p.His181Arg) single nucleotide variant not provided [RCV002011279] Chr14:67690334 [GRCh38]
Chr14:68157051 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_016026.4(RDH11):c.946C>G (p.Pro316Ala) single nucleotide variant not provided [RCV002010287] Chr14:67678332 [GRCh38]
Chr14:68145049 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_016026.4(RDH11):c.889C>T (p.Arg297Cys) single nucleotide variant not provided [RCV002050808] Chr14:67678389 [GRCh38]
Chr14:68145106 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_016026.4(RDH11):c.677C>T (p.Thr226Met) single nucleotide variant not provided [RCV002047023] Chr14:67685192 [GRCh38]
Chr14:68151909 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_016026.4(RDH11):c.442G>A (p.Val148Ile) single nucleotide variant not provided [RCV001976853] Chr14:67691152 [GRCh38]
Chr14:68157869 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_016026.4(RDH11):c.212C>T (p.Ala71Val) single nucleotide variant not provided [RCV001924138] Chr14:67692575 [GRCh38]
Chr14:68159292 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_016026.4(RDH11):c.55A>G (p.Met19Val) single nucleotide variant not provided [RCV001866757] Chr14:67695649 [GRCh38]
Chr14:68162366 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_016026.4(RDH11):c.23T>C (p.Leu8Pro) single nucleotide variant not provided [RCV001907358] Chr14:67695681 [GRCh38]
Chr14:68162398 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_016026.4(RDH11):c.241G>A (p.Val81Met) single nucleotide variant not provided [RCV002027928] Chr14:67692546 [GRCh38]
Chr14:68159263 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_016026.4(RDH11):c.688G>C (p.Val230Leu) single nucleotide variant not provided [RCV001990615] Chr14:67685181 [GRCh38]
Chr14:68151898 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_016026.4(RDH11):c.665-5A>G single nucleotide variant not provided [RCV001881988] Chr14:67685209 [GRCh38]
Chr14:68151926 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_016026.4(RDH11):c.220G>C (p.Asp74His) single nucleotide variant not provided [RCV002036435] Chr14:67692567 [GRCh38]
Chr14:68159284 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_016026.4(RDH11):c.289C>T (p.Arg97Trp) single nucleotide variant not provided [RCV001876344] Chr14:67692498 [GRCh38]
Chr14:68159215 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_016026.4(RDH11):c.227A>G (p.Glu76Gly) single nucleotide variant not provided [RCV001991046] Chr14:67692560 [GRCh38]
Chr14:68159277 [GRCh37]
Chr14:14q24.1		 uncertain significance
NC_000014.8:g.(?_68145038)_(68282680_?)dup duplication Spastic paraplegia [RCV001990213] Chr14:68145038..68282680 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_016026.4(RDH11):c.854+13T>G single nucleotide variant not provided [RCV001879482] Chr14:67685002 [GRCh38]
Chr14:68151719 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_016026.4(RDH11):c.718G>C (p.Val240Leu) single nucleotide variant not provided [RCV002049221] Chr14:67685151 [GRCh38]
Chr14:68151868 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_016026.4(RDH11):c.812C>T (p.Ala271Val) single nucleotide variant not provided [RCV001923084] Chr14:67685057 [GRCh38]
Chr14:68151774 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_016026.4(RDH11):c.310A>G (p.Thr104Ala) single nucleotide variant not provided [RCV002030306] Chr14:67692477 [GRCh38]
Chr14:68159194 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_016026.4(RDH11):c.45C>G (p.Phe15Leu) single nucleotide variant not provided [RCV001867569] Chr14:67695659 [GRCh38]
Chr14:68162376 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_016026.4(RDH11):c.798C>T (p.Thr266=) single nucleotide variant not provided [RCV002125467] Chr14:67685071 [GRCh38]
Chr14:68151788 [GRCh37]
Chr14:14q24.1		 likely benign
NM_016026.4(RDH11):c.665-10C>T single nucleotide variant not provided [RCV002210496] Chr14:67685214 [GRCh38]
Chr14:68151931 [GRCh37]
Chr14:14q24.1		 likely benign
NM_016026.4(RDH11):c.665-11C>T single nucleotide variant not provided [RCV002088952] Chr14:67685215 [GRCh38]
Chr14:68151932 [GRCh37]
Chr14:14q24.1		 likely benign
NM_016026.4(RDH11):c.687T>C (p.Ser229=) single nucleotide variant not provided [RCV002166724] Chr14:67685182 [GRCh38]
Chr14:68151899 [GRCh37]
Chr14:14q24.1		 likely benign
NM_016026.4(RDH11):c.405C>T (p.Tyr135=) single nucleotide variant not provided [RCV002109163] Chr14:67691189 [GRCh38]
Chr14:68157906 [GRCh37]
Chr14:14q24.1		 likely benign
NM_016026.4(RDH11):c.665-17A>G single nucleotide variant not provided [RCV002134546] Chr14:67685221 [GRCh38]
Chr14:68151938 [GRCh37]
Chr14:14q24.1		 likely benign
NM_016026.4(RDH11):c.723G>A (p.Arg241=) single nucleotide variant not provided [RCV002215933] Chr14:67685146 [GRCh38]
Chr14:68151863 [GRCh37]
Chr14:14q24.1		 likely benign
NM_016026.4(RDH11):c.715C>T (p.Leu239=) single nucleotide variant not provided [RCV002149721] Chr14:67685154 [GRCh38]
Chr14:68151871 [GRCh37]
Chr14:14q24.1		 likely benign
NM_016026.4(RDH11):c.75-9T>C single nucleotide variant not provided [RCV002078817] Chr14:67693061 [GRCh38]
Chr14:68159778 [GRCh37]
Chr14:14q24.1		 likely benign
NM_016026.4(RDH11):c.672C>T (p.Gly224=) single nucleotide variant not provided [RCV002212600] Chr14:67685197 [GRCh38]
Chr14:68151914 [GRCh37]
Chr14:14q24.1		 likely benign
NM_016026.4(RDH11):c.132T>C (p.Val44=) single nucleotide variant not provided [RCV002169355] Chr14:67692995 [GRCh38]
Chr14:68159712 [GRCh37]
Chr14:14q24.1		 likely benign
NM_016026.4(RDH11):c.771C>T (p.Ile257=) single nucleotide variant not provided [RCV002133447] Chr14:67685098 [GRCh38]
Chr14:68151815 [GRCh37]
Chr14:14q24.1		 likely benign
NM_016026.4(RDH11):c.168G>A (p.Glu56=) single nucleotide variant not provided [RCV002193511] Chr14:67692959 [GRCh38]
Chr14:68159676 [GRCh37]
Chr14:14q24.1		 likely benign
NM_016026.4(RDH11):c.855-19C>T single nucleotide variant not provided [RCV002121234] Chr14:67678442 [GRCh38]
Chr14:68145159 [GRCh37]
Chr14:14q24.1		 likely benign
NM_016026.4(RDH11):c.652C>T (p.Arg218Trp) single nucleotide variant RDH11-related disorder [RCV003960928]|not provided [RCV002199051] Chr14:67690224 [GRCh38]
Chr14:68156941 [GRCh37]
Chr14:14q24.1		 likely benign
NM_016026.4(RDH11):c.537A>G (p.Ala179=) single nucleotide variant not provided [RCV002137303] Chr14:67690339 [GRCh38]
Chr14:68157056 [GRCh37]
Chr14:14q24.1		 likely benign
NM_016026.4(RDH11):c.507A>G (p.Pro169=) single nucleotide variant not provided [RCV002141155] Chr14:67690369 [GRCh38]
Chr14:68157086 [GRCh37]
Chr14:14q24.1		 likely benign
NM_016026.4(RDH11):c.455-18dup duplication not provided [RCV002119967] Chr14:67690438..67690439 [GRCh38]
Chr14:68157155..68157156 [GRCh37]
Chr14:14q24.1		 benign
NM_016026.4(RDH11):c.363C>T (p.Leu121=) single nucleotide variant not provided [RCV002142150] Chr14:67691231 [GRCh38]
Chr14:68157948 [GRCh37]
Chr14:14q24.1		 likely benign
NM_016026.4(RDH11):c.807C>T (p.His269=) single nucleotide variant RDH11-related disorder [RCV003978770]|not provided [RCV002157916] Chr14:67685062 [GRCh38]
Chr14:68151779 [GRCh37]
Chr14:14q24.1		 likely benign
NM_016026.4(RDH11):c.459C>T (p.His153=) single nucleotide variant not provided [RCV002217260] Chr14:67690417 [GRCh38]
Chr14:68157134 [GRCh37]
Chr14:14q24.1		 likely benign
NM_016026.4(RDH11):c.708A>G (p.Gln236=) single nucleotide variant not provided [RCV002157851] Chr14:67685161 [GRCh38]
Chr14:68151878 [GRCh37]
Chr14:14q24.1		 likely benign
NM_016026.4(RDH11):c.193+10C>T single nucleotide variant not provided [RCV002099600] Chr14:67692924 [GRCh38]
Chr14:68159641 [GRCh37]
Chr14:14q24.1		 likely benign
NC_000014.8:g.(?_68145038)_(68238947_?)dup duplication not provided [RCV003119697] Chr14:68145038..68238947 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_016026.4(RDH11):c.910C>T (p.Arg304Trp) single nucleotide variant not provided [RCV002296940] Chr14:67678368 [GRCh38]
Chr14:68145085 [GRCh37]
Chr14:14q24.1		 uncertain significance
GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2 copy number gain See cases [RCV002286356] Chr14:37671058..106985955 [GRCh37]
Chr14:14q13.3-32.33		 pathogenic
NM_016026.4(RDH11):c.154G>A (p.Gly52Ser) single nucleotide variant not provided [RCV002297667] Chr14:67692973 [GRCh38]
Chr14:68159690 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_016026.4(RDH11):c.46C>T (p.Leu16Phe) single nucleotide variant not provided [RCV002297486] Chr14:67695658 [GRCh38]
Chr14:68162375 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_016026.4(RDH11):c.911G>A (p.Arg304Gln) single nucleotide variant not specified [RCV004323826] Chr14:67678367 [GRCh38]
Chr14:68145084 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_016026.4(RDH11):c.179A>G (p.Glu60Gly) single nucleotide variant not provided [RCV002301380] Chr14:67692948 [GRCh38]
Chr14:68159665 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_016026.4(RDH11):c.431T>C (p.Met144Thr) single nucleotide variant not provided [RCV002295926] Chr14:67691163 [GRCh38]
Chr14:68157880 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_016026.4(RDH11):c.649G>A (p.Ala217Thr) single nucleotide variant not provided [RCV002815822] Chr14:67690227 [GRCh38]
Chr14:68156944 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_016026.4(RDH11):c.319A>G (p.Ile107Val) single nucleotide variant not provided [RCV002726818] Chr14:67692468 [GRCh38]
Chr14:68159185 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_016026.4(RDH11):c.234G>A (p.Gly78=) single nucleotide variant not provided [RCV002731322] Chr14:67692553 [GRCh38]
Chr14:68159270 [GRCh37]
Chr14:14q24.1		 likely benign
NM_016026.4(RDH11):c.74+3C>A single nucleotide variant not provided [RCV002881243] Chr14:67695627 [GRCh38]
Chr14:68162344 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_016026.4(RDH11):c.74+16T>A single nucleotide variant not provided [RCV002681149] Chr14:67695614 [GRCh38]
Chr14:68162331 [GRCh37]
Chr14:14q24.1		 likely benign
NM_016026.4(RDH11):c.622G>C (p.Ala208Pro) single nucleotide variant not provided [RCV003014708] Chr14:67690254 [GRCh38]
Chr14:68156971 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_016026.4(RDH11):c.927T>C (p.Ser309=) single nucleotide variant not provided [RCV002726947] Chr14:67678351 [GRCh38]
Chr14:68145068 [GRCh37]
Chr14:14q24.1		 likely benign
NM_016026.4(RDH11):c.764T>G (p.Phe255Cys) single nucleotide variant not provided [RCV002904427] Chr14:67685105 [GRCh38]
Chr14:68151822 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_016026.4(RDH11):c.308A>G (p.Asp103Gly) single nucleotide variant not specified [RCV004141276] Chr14:67692479 [GRCh38]
Chr14:68159196 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_016026.4(RDH11):c.20C>T (p.Pro7Leu) single nucleotide variant not provided [RCV002842786] Chr14:67695684 [GRCh38]
Chr14:68162401 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_016026.4(RDH11):c.352G>C (p.Glu118Gln) single nucleotide variant not specified [RCV004180245] Chr14:67691242 [GRCh38]
Chr14:68157959 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_016026.4(RDH11):c.420T>C (p.Asp140=) single nucleotide variant not provided [RCV003037525] Chr14:67691174 [GRCh38]
Chr14:68157891 [GRCh37]
Chr14:14q24.1		 likely benign
NM_016026.4(RDH11):c.535G>A (p.Ala179Thr) single nucleotide variant not provided [RCV002760595] Chr14:67690341 [GRCh38]
Chr14:68157058 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_016026.4(RDH11):c.350-15G>A single nucleotide variant not provided [RCV002618951] Chr14:67691259 [GRCh38]
Chr14:68157976 [GRCh37]
Chr14:14q24.1		 likely benign
NM_016026.4(RDH11):c.193+8C>T single nucleotide variant not provided [RCV002889197] Chr14:67692926 [GRCh38]
Chr14:68159643 [GRCh37]
Chr14:14q24.1		 likely benign
NM_016026.4(RDH11):c.950T>C (p.Ile317Thr) single nucleotide variant not provided [RCV003020134] Chr14:67678328 [GRCh38]
Chr14:68145045 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_016026.4(RDH11):c.130G>A (p.Val44Ile) single nucleotide variant not provided [RCV002618975] Chr14:67692997 [GRCh38]
Chr14:68159714 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_016026.4(RDH11):c.411G>A (p.Lys137=) single nucleotide variant not provided [RCV002918458] Chr14:67691183 [GRCh38]
Chr14:68157900 [GRCh37]
Chr14:14q24.1		 likely benign
NM_016026.4(RDH11):c.75-6C>T single nucleotide variant not provided [RCV002852747] Chr14:67693058 [GRCh38]
Chr14:68159775 [GRCh37]
Chr14:14q24.1		 likely benign
NM_016026.4(RDH11):c.915G>C (p.Leu305=) single nucleotide variant not provided [RCV003057376] Chr14:67678363 [GRCh38]
Chr14:68145080 [GRCh37]
Chr14:14q24.1		 likely benign
NM_016026.4(RDH11):c.151A>G (p.Thr51Ala) single nucleotide variant not provided [RCV002982223] Chr14:67692976 [GRCh38]
Chr14:68159693 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_016026.4(RDH11):c.93G>A (p.Gly31=) single nucleotide variant not provided [RCV003041721] Chr14:67693034 [GRCh38]
Chr14:68159751 [GRCh37]
Chr14:14q24.1		 likely benign
NM_016026.4(RDH11):c.934C>T (p.Leu312=) single nucleotide variant not provided [RCV002852081] Chr14:67678344 [GRCh38]
Chr14:68145061 [GRCh37]
Chr14:14q24.1		 likely benign
NM_016026.4(RDH11):c.531C>T (p.Ser177=) single nucleotide variant not provided [RCV002597125] Chr14:67690345 [GRCh38]
Chr14:68157062 [GRCh37]
Chr14:14q24.1		 likely benign
NM_016026.4(RDH11):c.587A>G (p.Tyr196Cys) single nucleotide variant not provided [RCV002650503] Chr14:67690289 [GRCh38]
Chr14:68157006 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_016026.4(RDH11):c.81G>T (p.Met27Ile) single nucleotide variant not specified [RCV004135623] Chr14:67693046 [GRCh38]
Chr14:68159763 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_016026.4(RDH11):c.217C>T (p.Arg73Trp) single nucleotide variant not provided [RCV002579749]|not specified [RCV004064351] Chr14:67692570 [GRCh38]
Chr14:68159287 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_016026.4(RDH11):c.514A>G (p.Ile172Val) single nucleotide variant not provided [RCV003009240] Chr14:67690362 [GRCh38]
Chr14:68157079 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_016026.4(RDH11):c.350-16C>T single nucleotide variant not provided [RCV002579851] Chr14:67691260 [GRCh38]
Chr14:68157977 [GRCh37]
Chr14:14q24.1		 likely benign
NM_016026.4(RDH11):c.454+3A>G single nucleotide variant not provided [RCV003027916] Chr14:67691137 [GRCh38]
Chr14:68157854 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_016026.4(RDH11):c.854+18T>G single nucleotide variant not provided [RCV002877492] Chr14:67684997 [GRCh38]
Chr14:68151714 [GRCh37]
Chr14:14q24.1		 likely benign
NM_016026.4(RDH11):c.394A>G (p.Met132Val) single nucleotide variant not provided [RCV002746773] Chr14:67691200 [GRCh38]
Chr14:68157917 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_016026.4(RDH11):c.307G>A (p.Asp103Asn) single nucleotide variant not provided [RCV002856239] Chr14:67692480 [GRCh38]
Chr14:68159197 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_016026.4(RDH11):c.34C>T (p.Leu12Phe) single nucleotide variant not provided [RCV002630153] Chr14:67695670 [GRCh38]
Chr14:68162387 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_016026.4(RDH11):c.161G>A (p.Gly54Glu) single nucleotide variant not provided [RCV003049223] Chr14:67692966 [GRCh38]
Chr14:68159683 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_016026.4(RDH11):c.413C>T (p.Thr138Ile) single nucleotide variant not provided [RCV002630245] Chr14:67691181 [GRCh38]
Chr14:68157898 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_016026.4(RDH11):c.585C>G (p.Phe195Leu) single nucleotide variant not provided [RCV002715931] Chr14:67690291 [GRCh38]
Chr14:68157008 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_016026.4(RDH11):c.218G>A (p.Arg73Gln) single nucleotide variant not provided [RCV002604907]|not specified [RCV004065852] Chr14:67692569 [GRCh38]
Chr14:68159286 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_016026.4(RDH11):c.106A>G (p.Thr36Ala) single nucleotide variant not provided [RCV002943054] Chr14:67693021 [GRCh38]
Chr14:68159738 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_016026.4(RDH11):c.379A>G (p.Asn127Asp) single nucleotide variant not provided [RCV002583378] Chr14:67691215 [GRCh38]
Chr14:68157932 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_016026.4(RDH11):c.476T>G (p.Leu159Arg) single nucleotide variant not provided [RCV002589370] Chr14:67690400 [GRCh38]
Chr14:68157117 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_016026.4(RDH11):c.953A>G (p.Asp318Gly) single nucleotide variant not specified [RCV004316523] Chr14:67678325 [GRCh38]
Chr14:68145042 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_016026.4(RDH11):c.749G>A (p.Trp250Ter) single nucleotide variant Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome [RCV003159286] Chr14:67685120 [GRCh38]
Chr14:68151837 [GRCh37]
Chr14:14q24.1		 likely pathogenic
GRCh37/hg19 14q24.1(chr14:67906151-68183185)x3 copy number gain not provided [RCV003485040] Chr14:67906151..68183185 [GRCh37]
Chr14:14q24.1		 uncertain significance
GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3 copy number gain not provided [RCV003485036] Chr14:58894502..107227240 [GRCh37]
Chr14:14q23.1-32.33		 pathogenic
GRCh37/hg19 14q22.3-24.1(chr14:57588965-68334517)x3 copy number gain not provided [RCV003485034] Chr14:57588965..68334517 [GRCh37]
Chr14:14q22.3-24.1		 likely pathogenic
GRCh37/hg19 14q23.3-24.1(chr14:67443098-68423187)x3 copy number gain not provided [RCV003485037] Chr14:67443098..68423187 [GRCh37]
Chr14:14q23.3-24.1		 uncertain significance
NM_016026.4(RDH11):c.219G>A (p.Arg73=) single nucleotide variant not provided [RCV003700698] Chr14:67692568 [GRCh38]
Chr14:68159285 [GRCh37]
Chr14:14q24.1		 likely benign
NM_016026.4(RDH11):c.408G>A (p.Ser136=) single nucleotide variant not provided [RCV003709581] Chr14:67691186 [GRCh38]
Chr14:68157903 [GRCh37]
Chr14:14q24.1		 likely benign
NM_016026.4(RDH11):c.454+20C>T single nucleotide variant not provided [RCV003843484] Chr14:67691120 [GRCh38]
Chr14:68157837 [GRCh37]
Chr14:14q24.1		 likely benign
NM_016026.4(RDH11):c.783G>A (p.Gln261=) single nucleotide variant not provided [RCV003872494] Chr14:67685086 [GRCh38]
Chr14:68151803 [GRCh37]
Chr14:14q24.1		 likely benign
NM_016026.4(RDH11):c.723G>T (p.Arg241=) single nucleotide variant not provided [RCV003553870] Chr14:67685146 [GRCh38]
Chr14:68151863 [GRCh37]
Chr14:14q24.1		 likely benign
GRCh37/hg19 14q23.3-24.1(chr14:67491176-68153682)x3 copy number gain not specified [RCV003987055] Chr14:67491176..68153682 [GRCh37]
Chr14:14q23.3-24.1		 uncertain significance
NM_016026.4(RDH11):c.350-7C>T single nucleotide variant not provided [RCV003863265] Chr14:67691251 [GRCh38]
Chr14:68157968 [GRCh37]
Chr14:14q24.1		 likely benign
NM_016026.4(RDH11):c.194-12G>A single nucleotide variant not provided [RCV003709925] Chr14:67692605 [GRCh38]
Chr14:68159322 [GRCh37]
Chr14:14q24.1		 likely benign
NM_016026.4(RDH11):c.357G>A (p.Lys119=) single nucleotide variant not provided [RCV003859375] Chr14:67691237 [GRCh38]
Chr14:68157954 [GRCh37]
Chr14:14q24.1		 likely benign
NM_016026.4(RDH11):c.448C>A (p.His150Asn) single nucleotide variant not specified [RCV004443688] Chr14:67691146 [GRCh38]
Chr14:68157863 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_016026.4(RDH11):c.-10G>C single nucleotide variant RDH11-related disorder [RCV003971680] Chr14:67695713 [GRCh38]
Chr14:68162430 [GRCh37]
Chr14:14q24.1		 likely benign
NM_016026.4(RDH11):c.693C>A (p.His231Gln) single nucleotide variant not specified [RCV004443689] Chr14:67685176 [GRCh38]
Chr14:68151893 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_016026.4(RDH11):c.890G>A (p.Arg297His) single nucleotide variant not specified [RCV004443690] Chr14:67678388 [GRCh38]
Chr14:68145105 [GRCh37]
Chr14:14q24.1		 uncertain significance
NC_000014.8:g.(?_68145038)_(68276026_?)dup duplication Leber congenital amaurosis 13 [RCV004578125] Chr14:68145038..68276026 [GRCh37]
Chr14:14q24.1		 uncertain significance
NC_000014.8:g.(?_68145038)_(68282680_?)del deletion Spastic paraplegia [RCV004578073] Chr14:68145038..68282680 [GRCh37]
Chr14:14q24.1		 pathogenic
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR21hsa-miR-21-5pMirtarbaseexternal_infoMicroarrayFunctional MTI (Weak)17363372

Predicted Target Of
Summary Value
Count of predictions:2306
Count of miRNA genes:892
Interacting mature miRNAs:1027
Transcripts:ENST00000381346, ENST00000428130, ENST00000553384, ENST00000553578, ENST00000553816, ENST00000554035, ENST00000554731, ENST00000556692, ENST00000557273, ENST00000557331, ENST00000557726
Prediction methods:Microtar, Miranda, Rnahybrid
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.

Markers in Region
RH68773  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371468,150,403 - 68,150,601UniSTSGRCh37
Build 361467,220,156 - 67,220,354RGDNCBI36
Celera1448,209,447 - 48,209,645RGD
Cytogenetic Map14q24.1UniSTS
HuRef1448,320,085 - 48,320,283UniSTS
GeneMap99-GB4 RH Map14171.7UniSTS
RH103046  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371468,143,777 - 68,143,907UniSTSGRCh37
Build 361467,213,530 - 67,213,660RGDNCBI36
Celera1448,202,820 - 48,202,950RGD
Cytogenetic Map14q24.1UniSTS
HuRef1448,313,456 - 48,313,586UniSTS
GeneMap99-GB4 RH Map14178.42UniSTS
G62055  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371468,144,349 - 68,144,479UniSTSGRCh37
Build 361467,214,102 - 67,214,232RGDNCBI36
Celera1448,203,392 - 48,203,522RGD
Cytogenetic Map14q24.1UniSTS
HuRef1448,314,030 - 48,314,160UniSTS
G35621  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371468,146,951 - 68,147,082UniSTSGRCh37
Build 361467,216,704 - 67,216,835RGDNCBI36
Celera1448,205,995 - 48,206,126RGD
Cytogenetic Map14q24.1UniSTS
HuRef1448,316,633 - 48,316,764UniSTS
G35424  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371468,154,040 - 68,154,164UniSTSGRCh37
Build 361467,223,793 - 67,223,917RGDNCBI36
Celera1448,213,083 - 48,213,207RGD
Cytogenetic Map14q24.1UniSTS
HuRef1448,323,721 - 48,323,845UniSTS
IB526  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371468,144,110 - 68,144,316UniSTSGRCh37
Build 361467,213,863 - 67,214,069RGDNCBI36
Celera1448,203,153 - 48,203,359RGD
Cytogenetic Map14q24.1UniSTS
HuRef1448,313,791 - 48,313,997UniSTS
GeneMap99-GB4 RH Map14163.76UniSTS
Whitehead-RH Map14248.7UniSTS
Whitehead-YAC Contig Map14 UniSTS
G36036  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371468,153,379 - 68,153,628UniSTSGRCh37
Build 361467,223,132 - 67,223,381RGDNCBI36
Celera1448,212,422 - 48,212,671RGD
Cytogenetic Map14q24.1UniSTS
HuRef1448,323,060 - 48,323,309UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4974 1726 2351 6 624 1951 465 2270 7306 6472 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008875 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NG_042282 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001252650 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_016026 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB209223 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF151840 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF167438 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF395068 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI382141 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK057195 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK074749 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK289427 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293355 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307500 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314465 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL049779 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC000112 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC011727 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC026274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC037302 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC051291 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471061 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068264 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CQ783647 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR457180 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC355364 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ426886 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178627 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178628 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000381346   ⟹   ENSP00000370750
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1467,676,800 - 67,695,764 (-)Ensembl
Ensembl Acc Id: ENST00000428130   ⟹   ENSP00000416395
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1467,678,034 - 67,695,733 (-)Ensembl
Ensembl Acc Id: ENST00000553384   ⟹   ENSP00000452079
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1467,677,364 - 67,695,754 (-)Ensembl
Ensembl Acc Id: ENST00000553578
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1467,677,393 - 67,692,851 (-)Ensembl
Ensembl Acc Id: ENST00000553816
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1467,684,510 - 67,695,717 (-)Ensembl
Ensembl Acc Id: ENST00000554035   ⟹   ENSP00000450802
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1467,678,087 - 67,692,483 (-)Ensembl
Ensembl Acc Id: ENST00000554731   ⟹   ENSP00000451280
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1467,678,073 - 67,695,766 (-)Ensembl
Ensembl Acc Id: ENST00000556692
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1467,692,416 - 67,695,793 (-)Ensembl
Ensembl Acc Id: ENST00000557273   ⟹   ENSP00000450651
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1467,685,073 - 67,695,730 (-)Ensembl
Ensembl Acc Id: ENST00000557331   ⟹   ENSP00000452108
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1467,690,275 - 67,695,774 (-)Ensembl
Ensembl Acc Id: ENST00000557726   ⟹   ENSP00000450435
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1467,685,153 - 67,695,764 (-)Ensembl
RefSeq Acc Id: NM_001252650   ⟹   NP_001239579
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381467,676,800 - 67,695,764 (-)NCBI
GRCh371468,143,517 - 68,162,510 (-)NCBI
HuRef1448,313,196 - 48,332,190 (-)NCBI
CHM1_11468,082,296 - 68,101,280 (-)NCBI
T2T-CHM13v2.01461,883,919 - 61,902,884 (-)NCBI
Sequence:
RefSeq Acc Id: NM_016026   ⟹   NP_057110
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381467,676,800 - 67,695,764 (-)NCBI
GRCh371468,143,517 - 68,162,510 (-)ENTREZGENE
Build 361467,213,270 - 67,232,213 (-)NCBI Archive
HuRef1448,313,196 - 48,332,190 (-)ENTREZGENE
CHM1_11468,082,296 - 68,101,280 (-)NCBI
T2T-CHM13v2.01461,883,919 - 61,902,884 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001239579 (Get FASTA)   NCBI Sequence Viewer  
  NP_057110 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAD34077 (Get FASTA)   NCBI Sequence Viewer  
  AAF89632 (Get FASTA)   NCBI Sequence Viewer  
  AAH00112 (Get FASTA)   NCBI Sequence Viewer  
  AAH11727 (Get FASTA)   NCBI Sequence Viewer  
  AAH26274 (Get FASTA)   NCBI Sequence Viewer  
  AAH37302 (Get FASTA)   NCBI Sequence Viewer  
  AAH51291 (Get FASTA)   NCBI Sequence Viewer  
  AAK72049 (Get FASTA)   NCBI Sequence Viewer  
  ABD90542 (Get FASTA)   NCBI Sequence Viewer  
  ALQ34085 (Get FASTA)   NCBI Sequence Viewer  
  ALQ34086 (Get FASTA)   NCBI Sequence Viewer  
  BAD92460 (Get FASTA)   NCBI Sequence Viewer  
  BAF82116 (Get FASTA)   NCBI Sequence Viewer  
  BAG37073 (Get FASTA)   NCBI Sequence Viewer  
  BAG51881 (Get FASTA)   NCBI Sequence Viewer  
  BAG51997 (Get FASTA)   NCBI Sequence Viewer  
  BAG56871 (Get FASTA)   NCBI Sequence Viewer  
  CAF86792 (Get FASTA)   NCBI Sequence Viewer  
  CAG33461 (Get FASTA)   NCBI Sequence Viewer  
  EAW80948 (Get FASTA)   NCBI Sequence Viewer  
  EAW80949 (Get FASTA)   NCBI Sequence Viewer  
  EAW80950 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000370750
  ENSP00000370750.4
  ENSP00000416395
  ENSP00000416395.2
  ENSP00000450435.1
  ENSP00000450651.1
  ENSP00000450802.1
  ENSP00000451280.1
  ENSP00000452079.1
  ENSP00000452108.1
GenBank Protein Q8TC12 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_057110   ⟸   NM_016026
- Peptide Label: isoform 1
- UniProtKB: Q9NRW0 (UniProtKB/Swiss-Prot),   Q6IAH5 (UniProtKB/Swiss-Prot),   Q0QD40 (UniProtKB/Swiss-Prot),   B4DDW0 (UniProtKB/Swiss-Prot),   B2RB26 (UniProtKB/Swiss-Prot),   A8K062 (UniProtKB/Swiss-Prot),   A6NDK3 (UniProtKB/Swiss-Prot),   Q9Y391 (UniProtKB/Swiss-Prot),   Q8TC12 (UniProtKB/Swiss-Prot),   A0A0S2Z583 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001239579   ⟸   NM_001252650
- Peptide Label: isoform 2
- UniProtKB: Q8TC12 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000452108   ⟸   ENST00000557331
Ensembl Acc Id: ENSP00000450651   ⟸   ENST00000557273
Ensembl Acc Id: ENSP00000450435   ⟸   ENST00000557726
Ensembl Acc Id: ENSP00000416395   ⟸   ENST00000428130
Ensembl Acc Id: ENSP00000370750   ⟸   ENST00000381346
Ensembl Acc Id: ENSP00000452079   ⟸   ENST00000553384
Ensembl Acc Id: ENSP00000451280   ⟸   ENST00000554731
Ensembl Acc Id: ENSP00000450802   ⟸   ENST00000554035

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8TC12-F1-model_v2 AlphaFold Q8TC12 1-318 view protein structure

Promoters
RGD ID:6791834
Promoter ID:HG_KWN:19633
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:NM_016026,   UC001XJW.2,   UC001XJX.2
Position:
Human AssemblyChrPosition (strand)Source
Build 361467,231,931 - 67,232,431 (-)MPROMDB
RGD ID:6852162
Promoter ID:EP73887
Type:initiation region
Name:HS_RDH11
Description:Retinol dehydrogenase 11 (all-trans and 9-cis).
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 361467,232,229 - 67,232,289EPD
RGD ID:7227965
Promoter ID:EPDNEW_H19728
Type:initiation region
Name:RDH11_2
Description:retinol dehydrogenase 11 (all-trans/9-cis/11-cis)
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H19729  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381467,690,298 - 67,690,358EPDNEW
RGD ID:7227967
Promoter ID:EPDNEW_H19729
Type:initiation region
Name:RDH11_1
Description:retinol dehydrogenase 11 (all-trans/9-cis/11-cis)
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H19728  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381467,695,730 - 67,695,790EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:17964 AgrOrtholog
COSMIC RDH11 COSMIC
Ensembl Genes ENSG00000072042 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000381346 ENTREZGENE
  ENST00000381346.9 UniProtKB/Swiss-Prot
  ENST00000428130 ENTREZGENE
  ENST00000428130.6 UniProtKB/Swiss-Prot
  ENST00000553384.5 UniProtKB/Swiss-Prot
  ENST00000554035.5 UniProtKB/TrEMBL
  ENST00000554731.1 UniProtKB/TrEMBL
  ENST00000557273.5 UniProtKB/TrEMBL
  ENST00000557331.1 UniProtKB/TrEMBL
  ENST00000557726.1 UniProtKB/TrEMBL
Gene3D-CATH NAD(P)-binding Rossmann-like Domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000072042 GTEx
HGNC ID HGNC:17964 ENTREZGENE
Human Proteome Map RDH11 Human Proteome Map
InterPro NAD(P)-bd_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SDR_fam UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:51109 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 51109 ENTREZGENE
OMIM 607849 OMIM
PANTHER PHOSPHATIDYLINOSITOL-GLYCAN BIOSYNTHESIS CLASS F PROTEIN-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RETINOL DEHYDROGENASE 11 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam adh_short UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134981588 PharmGKB
PRINTS GDHRDH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SDRFAMILY UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF51735 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0S2Z575_HUMAN UniProtKB/TrEMBL
  A0A0S2Z583 ENTREZGENE, UniProtKB/TrEMBL
  A6NDK3 ENTREZGENE
  A8K062 ENTREZGENE
  B2RB26 ENTREZGENE
  B3KQ19_HUMAN UniProtKB/TrEMBL
  B4DDW0 ENTREZGENE
  G3V234_HUMAN UniProtKB/TrEMBL
  G3V2G6_HUMAN UniProtKB/TrEMBL
  G3V3K0_HUMAN UniProtKB/TrEMBL
  G3V510_HUMAN UniProtKB/TrEMBL
  H0YJ46_HUMAN UniProtKB/TrEMBL
  Q0QD40 ENTREZGENE
  Q6IAH5 ENTREZGENE
  Q8TC12 ENTREZGENE
  Q9NRW0 ENTREZGENE
  Q9Y391 ENTREZGENE
  RDH11_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary A6NDK3 UniProtKB/Swiss-Prot
  A8K062 UniProtKB/Swiss-Prot
  B2RB26 UniProtKB/Swiss-Prot
  B4DDW0 UniProtKB/Swiss-Prot
  Q0QD40 UniProtKB/Swiss-Prot
  Q6IAH5 UniProtKB/Swiss-Prot
  Q9NRW0 UniProtKB/Swiss-Prot
  Q9Y391 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2018-02-13 RDH11  retinol dehydrogenase 11    retinol dehydrogenase 11 (all-trans/9-cis/11-cis)  Symbol and/or name change 5135510 APPROVED