CTSD (cathepsin D) - Rat Genome Database
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Gene: CTSD (cathepsin D) Homo sapiens
Analyze
Symbol: CTSD
Name: cathepsin D
RGD ID: 1351014
HGNC Page HGNC
Description: Exhibits peptidase activity. Involved in several processes, including lipoprotein catabolic process; positive regulation of cysteine-type endopeptidase activity involved in apoptotic process; and regulation of establishment of protein localization. Localizes to endosome membrane; lysosomal membrane; and membrane raft. Implicated in Alzheimer's disease; breast cancer; and neuronal ceroid lipofuscinosis 10. Biomarker of Alzheimer's disease.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: cathepsin d (lysosomal aspartyl protease); ceroid-lipofuscinosis, neuronal 10; CLN10; CPSD; epididymis secretory sperm binding protein Li 130P; HEL-S-130P; lysosomal aspartyl peptidase; lysosomal aspartyl protease; MGC2311
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
GRCh38.p13 Ensembl111,752,755 - 1,764,573 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl111,752,752 - 1,764,573 (-)EnsemblGRCh38hg38GRCh38
GRCh38111,752,755 - 1,763,927 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37111,773,982 - 1,785,222 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36111,730,561 - 1,741,798 (-)NCBINCBI36hg18NCBI36
Build 34111,730,560 - 1,741,798NCBI
Celera111,812,103 - 1,823,339 (-)NCBI
Cytogenetic Map11p15.5NCBI
HuRef111,564,872 - 1,576,226 (-)NCBIHuRef
CHM1_1111,772,933 - 1,784,154 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-alpha-tocopherol  (ISO)
(+)-pilocarpine  (ISO)
(-)-epigallocatechin 3-gallate  (EXP,ISO)
(R)-linalyl acetate  (EXP)
(R)-lipoic acid  (ISO)
(S)-amphetamine  (ISO)
(S)-naringenin  (EXP)
1,1,1-Trichloro-2-(o-chlorophenyl)-2-(p-chlorophenyl)ethane  (EXP)
1,2,4-trimethylbenzene  (ISO)
1,2-dimethylhydrazine  (ISO)
1,8-cineole  (EXP)
17beta-estradiol  (EXP)
17beta-hydroxy-17-methylestra-4,9,11-trien-3-one  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2-amino-2-deoxy-D-glucopyranose  (EXP)
2-butoxyethanol  (ISO)
2-deoxy-D-glucose  (ISO)
2-nitrofluorene  (ISO)
3'-amino-3'-deoxy-N(6),N(6)-dimethyladenosine  (ISO)
3,3'-diindolylmethane  (EXP)
3,4-methylenedioxymethamphetamine  (EXP,ISO)
3-methylcholanthrene  (EXP)
4-(N-nitrosomethylamino)-1-(3-pyridyl)butan-1-one  (ISO)
4-nitroquinoline N-oxide  (ISO)
4-nonylphenol  (EXP)
4-terpineol  (EXP)
4-tert-Octylphenol  (EXP)
5-methoxy-2-\{[(4-methoxy-3,5-dimethylpyridin-2-yl)methyl]sulfinyl\}-1H-benzimidazole  (ISO)
6alpha-methylprednisolone  (ISO)
7,12-dimethyltetraphene  (ISO)
acrolein  (EXP)
afimoxifene  (EXP)
aflatoxin B1  (EXP,ISO)
aflatoxin B2  (EXP)
aldehydo-D-glucosamine  (EXP)
all-trans-retinoic acid  (EXP)
alliin  (ISO)
aloxistatin  (EXP)
alpha-naphthoflavone  (EXP)
alpha-pinene  (EXP)
alpha-terpineol  (EXP)
amlodipine  (ISO)
ammonium chloride  (ISO)
amodiaquine  (EXP)
anthocyanin  (ISO)
aristolochic acid  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
arsenous acid  (EXP)
Azaspiracid  (EXP)
beauvericin  (EXP)
benzamide  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
benzo[b]fluoranthene  (ISO)
beta-D-glucosamine  (EXP)
bisphenol A  (EXP,ISO)
bortezomib  (EXP)
brucine  (EXP,ISO)
buspirone  (ISO)
cadmium atom  (EXP)
cadmium dichloride  (EXP,ISO)
caffeine  (EXP)
carbon nanotube  (ISO)
chloroquine  (ISO)
choline  (ISO)
cimetidine  (ISO)
cis-caffeic acid  (ISO)
cisplatin  (EXP,ISO)
clofibrate  (ISO)
cobalt dichloride  (EXP,ISO)
cocaine  (ISO)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) chloride  (ISO)
curcumin  (EXP,ISO)
cyclophosphamide  (ISO)
cyclosporin A  (EXP)
cyproconazole  (ISO)
cyprodinil  (EXP)
cysteamine  (ISO)
DDT  (EXP)
dexamethasone  (EXP,ISO)
dextran sulfate  (ISO)
diarsenic trioxide  (EXP)
diarylheptanoid  (EXP)
dibutyl phthalate  (ISO)
diethylstilbestrol  (ISO)
disodium cromoglycate  (ISO)
diuron  (ISO)
dopamine  (EXP)
dorsomorphin  (EXP)
doxorubicin  (EXP,ISO)
ellagic acid  (ISO)
emodin  (EXP)
enniatin  (EXP)
epoxiconazole  (ISO)
ethambutol  (ISO)
fenamidone  (ISO)
fenhexamid  (EXP)
ferulic acid  (ISO)
flavonoids  (ISO)
fludioxonil  (EXP)
flutamide  (ISO)
folic acid  (ISO)
fulvestrant  (EXP)
fumonisin B1  (ISO)
gamma-terpinene  (EXP)
genistein  (EXP,ISO)
gentamycin  (ISO)
geraniol  (ISO)
glyphosate  (EXP)
hydrogen peroxide  (EXP)
Indeno[1,2,3-cd]pyrene  (EXP)
indole-3-methanol  (EXP)
indometacin  (ISO)
isoprenaline  (ISO)
kainic acid  (ISO)
L-ascorbic acid  (ISO)
L-methionine  (ISO)
lead(0)  (EXP)
lead(2+)  (EXP)
leflunomide  (ISO)
limonene  (EXP)
linalool  (EXP)
linalyl acetate  (EXP)
lipoic acid  (ISO)
lipopolysaccharide  (ISO)
lithium atom  (ISO)
lithium hydride  (ISO)
lucanthone  (EXP)
malathion  (ISO)
manganese(II) chloride  (ISO)
mangiferin  (ISO)
Mecamylamine  (ISO)
medroxyprogesterone acetate  (EXP)
melatonin  (EXP)
methamphetamine  (ISO)
methapyrilene  (ISO)
morin  (ISO)
morusin  (EXP)
N,N,N',N'-tetrakis(2-pyridylmethyl)ethylenediamine  (ISO)
N-acetylsphingosine  (ISO)
N-nitrosodimethylamine  (ISO)
N-tosyl-L-phenylalanyl chloromethyl ketone  (EXP)
NADP zwitterion  (ISO)
NADP(+)  (ISO)
naphthalenes  (ISO)
naringin  (ISO)
nefazodone  (ISO)
Niclosamide  (EXP)
nicorandil  (ISO)
nitric oxide  (ISO)
nitroglycerin  (ISO)
Nonylphenol  (EXP)
omeprazole  (ISO)
ozone  (EXP)
p-tert-Amylphenol  (EXP)
paracetamol  (ISO)
paraquat  (ISO)
pepstatin A  (EXP,ISO)
phenacetin  (ISO)
phenobarbital  (ISO)
phenylhydrazine  (ISO)
phenylmercury acetate  (EXP)
PhIP  (EXP,ISO)
picene  (EXP)
piperonyl butoxide  (ISO)
pirimiphos-methyl  (ISO)
pirinixic acid  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
pristane  (ISO)
progesterone  (EXP)
propiconazole  (ISO)
quercetin  (EXP)
resveratrol  (EXP,ISO)
retinyl acetate  (ISO)
rotenone  (ISO)
S-allylcysteine  (ISO)
sarin  (EXP)
SB 431542  (EXP)
silicon dioxide  (EXP,ISO)
sodium arsenate  (ISO)
sodium arsenite  (EXP)
sodium fluoride  (ISO)
Soman  (ISO)
stilben-4-ol  (EXP)
stilbene-4,4'-diol  (EXP)
tamibarotene  (EXP)
tamoxifen  (EXP)
tea tree oil  (EXP)
tetrachloromethane  (ISO)
titanium dioxide  (EXP,ISO)
trans-caffeic acid  (ISO)
trans-stilbene-4,4'-diol  (EXP)
triclosan  (EXP)
tunicamycin  (EXP)
valdecoxib  (ISO)
valproic acid  (EXP)
vancomycin  (ISO)
vinclozolin  (ISO)
vitamin E  (ISO)
vorinostat  (EXP)
WIN 55212-2  (EXP)
Yessotoxin  (EXP)
zearalenone  (EXP)
zinc pyrithione  (EXP)

Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:938470   PMID:1522590   PMID:1692625   PMID:1734961   PMID:1837142   PMID:1883350   PMID:1939080   PMID:2013314   PMID:2069717   PMID:2180427   PMID:2350688   PMID:2736531  
PMID:3261170   PMID:3588310   PMID:3665421   PMID:3927292   PMID:3988746   PMID:6236213   PMID:7523115   PMID:7547509   PMID:7657720   PMID:7935485   PMID:8106429   PMID:8262386  
PMID:8393577   PMID:8419924   PMID:8467789   PMID:8671230   PMID:8889548   PMID:8930981   PMID:8943232   PMID:9076588   PMID:9275067   PMID:9349548   PMID:9731700   PMID:10504270  
PMID:10508159   PMID:10605825   PMID:10623764   PMID:10716266   PMID:10748089   PMID:10849758   PMID:10876156   PMID:10931940   PMID:10986284   PMID:11095076   PMID:11198280   PMID:11258665  
PMID:11264868   PMID:11341921   PMID:11436125   PMID:11581410   PMID:11687971   PMID:11779865   PMID:11780226   PMID:11786931   PMID:11840502   PMID:11906282   PMID:12011767   PMID:12083803  
PMID:12107093   PMID:12147324   PMID:12151789   PMID:12185597   PMID:12477932   PMID:12556904   PMID:12643545   PMID:12651610   PMID:12754519   PMID:12782337   PMID:12782632   PMID:12811635  
PMID:12826741   PMID:12970159   PMID:14702039   PMID:14718574   PMID:14744259   PMID:14767531   PMID:15003956   PMID:15081423   PMID:15158911   PMID:15168727   PMID:15192082   PMID:15211064  
PMID:15211070   PMID:15258139   PMID:15318816   PMID:15489334   PMID:15668295   PMID:15739123   PMID:15843343   PMID:15862967   PMID:15896324   PMID:15989967   PMID:16046058   PMID:16081416  
PMID:16127101   PMID:16263699   PMID:16263712   PMID:16331270   PMID:16335952   PMID:16341674   PMID:16354654   PMID:16396496   PMID:16417614   PMID:16502470   PMID:16543533   PMID:16608402  
PMID:16652347   PMID:16685649   PMID:16709808   PMID:16784755   PMID:16850161   PMID:16997486   PMID:17032648   PMID:17081065   PMID:17112520   PMID:17176069   PMID:17188016   PMID:17284061  
PMID:17289576   PMID:17340625   PMID:17395004   PMID:17532541   PMID:17601350   PMID:17670831   PMID:17875703   PMID:18177262   PMID:18202773   PMID:18248894   PMID:18296260   PMID:18307033  
PMID:18367545   PMID:18387691   PMID:18396902   PMID:18426579   PMID:18431031   PMID:18494001   PMID:18559512   PMID:18566016   PMID:18566385   PMID:18624398   PMID:18702517   PMID:18830724  
PMID:18977241   PMID:19056867   PMID:19061927   PMID:19109932   PMID:19115690   PMID:19203374   PMID:19221643   PMID:19383337   PMID:19487283   PMID:19494521   PMID:19571726   PMID:19723497  
PMID:19802014   PMID:19828951   PMID:19854241   PMID:19913121   PMID:19919557   PMID:19926167   PMID:19939935   PMID:19950226   PMID:20000738   PMID:20071328   PMID:20083556   PMID:20125193  
PMID:20301334   PMID:20301601   PMID:20385381   PMID:20399529   PMID:20430722   PMID:20551380   PMID:20597865   PMID:20628086   PMID:20666480   PMID:20666745   PMID:20826454   PMID:20855565  
PMID:20926008   PMID:21145461   PMID:21148553   PMID:21298030   PMID:21311773   PMID:21315176   PMID:21470957   PMID:21533003   PMID:21632707   PMID:21674799   PMID:21709160   PMID:21789704  
PMID:21800051   PMID:21873635   PMID:21909273   PMID:21948970   PMID:22081071   PMID:22190034   PMID:22244896   PMID:22261194   PMID:22268729   PMID:22302483   PMID:22388353   PMID:22399610  
PMID:22439866   PMID:22476353   PMID:22528489   PMID:22542809   PMID:22623531   PMID:22627201   PMID:22816225   PMID:22824147   PMID:22898364   PMID:22898924   PMID:22939629   PMID:22949512  
PMID:22964611   PMID:22990118   PMID:22996917   PMID:23042275   PMID:23065739   PMID:23107604   PMID:23219593   PMID:23250759   PMID:23304142   PMID:23376485   PMID:23415546   PMID:23439581  
PMID:23466190   PMID:23483898   PMID:23499937   PMID:23533145   PMID:23840360   PMID:23868063   PMID:23871913   PMID:23874603   PMID:23954850   PMID:24044567   PMID:24138030   PMID:24198402  
PMID:24259486   PMID:24281128   PMID:24366813   PMID:24423188   PMID:24467213   PMID:24511668   PMID:24656773   PMID:24898658   PMID:25037231   PMID:25095637   PMID:25147182   PMID:25204797  
PMID:25324306   PMID:25464930   PMID:25611836   PMID:25617759   PMID:25653352   PMID:25665578   PMID:25712867   PMID:25852190   PMID:25865307   PMID:25911051   PMID:26018151   PMID:26086961  
PMID:26183398   PMID:26186194   PMID:26203049   PMID:26217791   PMID:26344002   PMID:26344197   PMID:26351775   PMID:26448324   PMID:26465331   PMID:26496610   PMID:26499835   PMID:26507101  
PMID:26519755   PMID:26618866   PMID:26657266   PMID:26718887   PMID:26728129   PMID:26867770   PMID:26871637   PMID:26943237   PMID:26995190   PMID:27068509   PMID:27271556   PMID:27291402  
PMID:27333034   PMID:27629410   PMID:27751915   PMID:27922112   PMID:28065597   PMID:28073925   PMID:28199306   PMID:28218663   PMID:28336215   PMID:28344315   PMID:28390177   PMID:28493053  
PMID:28514442   PMID:28515276   PMID:28543404   PMID:28675934   PMID:28692057   PMID:28791438   PMID:28917980   PMID:28986522   PMID:29024694   PMID:29036611   PMID:29117863   PMID:29375176  
PMID:29467282   PMID:29501392   PMID:29507755   PMID:29509190   PMID:29961565   PMID:29993134   PMID:30037983   PMID:30051532   PMID:30227221   PMID:30278264   PMID:30397336   PMID:30442662  
PMID:30575818   PMID:30644102   PMID:30771306   PMID:30945288   PMID:30948266   PMID:31099754   PMID:31180492   PMID:31184779   PMID:31300519   PMID:31340140   PMID:31536960   PMID:31862139  
PMID:31910296   PMID:31936569   PMID:31960265   PMID:32140098   PMID:32176724   PMID:32253787   PMID:32578168   PMID:32814053   PMID:33144569  


Genomics

Comparative Map Data
CTSD
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl111,752,755 - 1,764,573 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl111,752,752 - 1,764,573 (-)EnsemblGRCh38hg38GRCh38
GRCh38111,752,755 - 1,763,927 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37111,773,982 - 1,785,222 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36111,730,561 - 1,741,798 (-)NCBINCBI36hg18NCBI36
Build 34111,730,560 - 1,741,798NCBI
Celera111,812,103 - 1,823,339 (-)NCBI
Cytogenetic Map11p15.5NCBI
HuRef111,564,872 - 1,576,226 (-)NCBIHuRef
CHM1_1111,772,933 - 1,784,154 (-)NCBICHM1_1
Ctsd
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm397141,929,647 - 141,941,564 (-)NCBIGRCm39mm39
GRCm387142,375,910 - 142,387,827 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl7142,375,911 - 142,388,038 (-)EnsemblGRCm38mm10GRCm38
MGSCv377149,561,821 - 149,573,775 (-)NCBIGRCm37mm9NCBIm37
MGSCv367142,185,306 - 142,197,260 (-)NCBImm8
Celera7142,131,673 - 142,143,627 (-)NCBICelera
Cytogenetic Map7F5NCBI
Ctsd
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rnor_6.01215,541,570 - 215,553,446 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1215,541,542 - 215,553,451 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01222,436,922 - 222,448,798 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41202,619,669 - 202,631,545 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11202,779,384 - 202,791,261 (-)NCBI
Celera1195,146,345 - 195,158,236 (-)NCBICelera
Cytogenetic Map1q41NCBI
Ctsd
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_00495542213,576,315 - 13,584,267 (-)NCBIChiLan1.0ChiLan1.0
CTSD
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1111,821,442 - 1,832,970 (-)NCBIpanpan1.1PanPan1.1panPan2
Mhudiblu_PPA_v0111,789,326 - 1,800,524 (-)NCBIMhudiblu_PPA_v0panPan3
CTSD
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl1846,010,440 - 46,019,457 (-)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.11846,010,440 - 46,019,457 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Ctsd
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_004936816680,798 - 690,959 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CTSD
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl21,188,549 - 1,197,635 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.121,188,548 - 1,197,642 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
CTSD
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.111,570,163 - 1,581,857 (-)NCBI
ChlSab1.1 Ensembl11,570,069 - 1,581,833 (-)Ensembl
Ctsd
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462476714,661,058 - 14,671,116 (-)NCBI

Position Markers
ECD00297  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,780,844 - 1,781,760UniSTSGRCh37
Build 36111,737,420 - 1,738,336RGDNCBI36
Celera111,818,961 - 1,819,877RGD
Cytogenetic Map11p15.5UniSTS
HuRef111,571,848 - 1,572,764UniSTS
ECD00346  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,776,977 - 1,777,889UniSTSGRCh37
Build 36111,733,553 - 1,734,465RGDNCBI36
Celera111,815,094 - 1,816,006RGD
Cytogenetic Map11p15.5UniSTS
HuRef111,567,981 - 1,568,893UniSTS
ECD00599  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,778,923 - 1,779,821UniSTSGRCh37
Build 36111,735,499 - 1,736,397RGDNCBI36
Celera111,817,040 - 1,817,938RGD
Cytogenetic Map11p15.5UniSTS
HuRef111,569,927 - 1,570,825UniSTS
ECD00904  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,781,829 - 1,782,714UniSTSGRCh37
Build 36111,738,405 - 1,739,290RGDNCBI36
Celera111,819,946 - 1,820,831RGD
Cytogenetic Map11p15.5UniSTS
HuRef111,572,833 - 1,573,718UniSTS
ECD00954  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,777,996 - 1,778,879UniSTSGRCh37
Build 36111,734,572 - 1,735,455RGDNCBI36
Celera111,816,113 - 1,816,996RGD
Cytogenetic Map11p15.5UniSTS
HuRef111,569,000 - 1,569,883UniSTS
ECD01139  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,774,253 - 1,775,129UniSTSGRCh37
Build 36111,730,829 - 1,731,705RGDNCBI36
Celera111,812,371 - 1,813,247RGD
Cytogenetic Map11p15.5UniSTS
HuRef111,565,143 - 1,566,019UniSTS
ECD01325  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,776,028 - 1,776,897UniSTSGRCh37
Build 36111,732,604 - 1,733,473RGDNCBI36
Celera111,814,145 - 1,815,014RGD
Cytogenetic Map11p15.5UniSTS
HuRef111,567,032 - 1,567,901UniSTS
ECD01352  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,779,905 - 1,780,773UniSTSGRCh37
Build 36111,736,481 - 1,737,349RGDNCBI36
Celera111,818,022 - 1,818,890RGD
Cytogenetic Map11p15.5UniSTS
HuRef111,570,909 - 1,571,777UniSTS
ECD06238  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,782,986 - 1,783,700UniSTSGRCh37
Build 36111,739,562 - 1,740,276RGDNCBI36
Celera111,821,103 - 1,821,817RGD
Cytogenetic Map11p15.5UniSTS
HuRef111,573,990 - 1,574,704UniSTS
ECD07271  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,783,755 - 1,784,441UniSTSGRCh37
Build 36111,740,331 - 1,741,017RGDNCBI36
Celera111,821,872 - 1,822,558RGD
Cytogenetic Map11p15.5UniSTS
HuRef111,574,759 - 1,575,445UniSTS
ECD07571  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,784,472 - 1,785,150UniSTSGRCh37
Build 36111,741,048 - 1,741,726RGDNCBI36
Celera111,822,589 - 1,823,267RGD
Cytogenetic Map11p15.5UniSTS
HuRef111,575,476 - 1,576,154UniSTS
ECD22944  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,785,364 - 1,785,567UniSTSGRCh37
Build 36111,741,940 - 1,742,143RGDNCBI36
Celera111,823,481 - 1,823,684RGD
Cytogenetic Map11p15.5UniSTS
HuRef111,576,368 - 1,576,571UniSTS
REN61163  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,786,977 - 1,787,215UniSTSGRCh37
Build 36111,743,553 - 1,743,791RGDNCBI36
Celera111,825,094 - 1,825,332RGD
Cytogenetic Map11p15.5UniSTS
HuRef111,577,982 - 1,578,220UniSTS
REN61164  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,786,770 - 1,787,001UniSTSGRCh37
Build 36111,743,346 - 1,743,577RGDNCBI36
Celera111,824,887 - 1,825,118RGD
Cytogenetic Map11p15.5UniSTS
HuRef111,577,775 - 1,578,006UniSTS
REN61165  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,786,563 - 1,786,793UniSTSGRCh37
Build 36111,743,139 - 1,743,369RGDNCBI36
Celera111,824,680 - 1,824,910RGD
Cytogenetic Map11p15.5UniSTS
HuRef111,577,568 - 1,577,798UniSTS
REN61166  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,785,566 - 1,785,793UniSTSGRCh37
Build 36111,742,142 - 1,742,369RGDNCBI36
Celera111,823,683 - 1,823,910RGD
Cytogenetic Map11p15.5UniSTS
HuRef111,576,570 - 1,576,797UniSTS
REN61167  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,785,364 - 1,785,588UniSTSGRCh37
Build 36111,741,940 - 1,742,164RGDNCBI36
Celera111,823,481 - 1,823,705RGD
Cytogenetic Map11p15.5UniSTS
HuRef111,576,368 - 1,576,592UniSTS
REN61168  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,784,417 - 1,784,651UniSTSGRCh37
Build 36111,740,993 - 1,741,227RGDNCBI36
Celera111,822,534 - 1,822,768RGD
Cytogenetic Map11p15.5UniSTS
HuRef111,575,421 - 1,575,655UniSTS
REN61169  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,784,181 - 1,784,441UniSTSGRCh37
Build 36111,740,757 - 1,741,017RGDNCBI36
Celera111,822,298 - 1,822,558RGD
Cytogenetic Map11p15.5UniSTS
HuRef111,575,185 - 1,575,445UniSTS
REN61170  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,783,954 - 1,784,194UniSTSGRCh37
Build 36111,740,530 - 1,740,770RGDNCBI36
Celera111,822,071 - 1,822,311RGD
Cytogenetic Map11p15.5UniSTS
HuRef111,574,958 - 1,575,198UniSTS
REN61171  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,783,715 - 1,783,974UniSTSGRCh37
Build 36111,740,291 - 1,740,550RGDNCBI36
Celera111,821,832 - 1,822,091RGD
Cytogenetic Map11p15.5UniSTS
HuRef111,574,719 - 1,574,978UniSTS
REN61172  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,783,482 - 1,783,734UniSTSGRCh37
Build 36111,740,058 - 1,740,310RGDNCBI36
Celera111,821,599 - 1,821,851RGD
Cytogenetic Map11p15.5UniSTS
HuRef111,574,486 - 1,574,738UniSTS
REN61173  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,783,269 - 1,783,503UniSTSGRCh37
Build 36111,739,845 - 1,740,079RGDNCBI36
Celera111,821,386 - 1,821,620RGD
Cytogenetic Map11p15.5UniSTS
HuRef111,574,273 - 1,574,507UniSTS
REN61174  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,783,051 - 1,783,277UniSTSGRCh37
Build 36111,739,627 - 1,739,853RGDNCBI36
Celera111,821,168 - 1,821,394RGD
Cytogenetic Map11p15.5UniSTS
HuRef111,574,055 - 1,574,281UniSTS
REN61175  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,782,758 - 1,783,005UniSTSGRCh37
Build 36111,739,334 - 1,739,581RGDNCBI36
Celera111,820,875 - 1,821,122RGD
Cytogenetic Map11p15.5UniSTS
HuRef111,573,762 - 1,574,009UniSTS
REN61176  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,782,539 - 1,782,777UniSTSGRCh37
Build 36111,739,115 - 1,739,353RGDNCBI36
Celera111,820,656 - 1,820,894RGD
Cytogenetic Map11p15.5UniSTS
HuRef111,573,543 - 1,573,781UniSTS
REN61177  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,782,330 - 1,782,562UniSTSGRCh37
Build 36111,738,906 - 1,739,138RGDNCBI36
Celera111,820,447 - 1,820,679RGD
Cytogenetic Map11p15.5UniSTS
HuRef111,573,334 - 1,573,566UniSTS
REN61178  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,782,119 - 1,782,343UniSTSGRCh37
Build 36111,738,695 - 1,738,919RGDNCBI36
Celera111,820,236 - 1,820,460RGD
Cytogenetic Map11p15.5UniSTS
HuRef111,573,123 - 1,573,347UniSTS
REN61179  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,781,729 - 1,781,974UniSTSGRCh37
Build 36111,738,305 - 1,738,550RGDNCBI36
Celera111,819,846 - 1,820,091RGD
Cytogenetic Map11p15.5UniSTS
HuRef111,572,733 - 1,572,978UniSTS
REN61180  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,781,522 - 1,781,749UniSTSGRCh37
Build 36111,738,098 - 1,738,325RGDNCBI36
Celera111,819,639 - 1,819,866RGD
Cytogenetic Map11p15.5UniSTS
HuRef111,572,526 - 1,572,753UniSTS
REN61181  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,781,156 - 1,781,422UniSTSGRCh37
Build 36111,737,732 - 1,737,998RGDNCBI36
Celera111,819,273 - 1,819,539RGD
Cytogenetic Map11p15.5UniSTS
HuRef111,572,160 - 1,572,426UniSTS
REN61182  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,780,952 - 1,781,178UniSTSGRCh37
Build 36111,737,528 - 1,737,754RGDNCBI36
Celera111,819,069 - 1,819,295RGD
Cytogenetic Map11p15.5UniSTS
HuRef111,571,956 - 1,572,182UniSTS
REN61183  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,780,737 - 1,780,968UniSTSGRCh37
Build 36111,737,313 - 1,737,544RGDNCBI36
Celera111,818,854 - 1,819,085RGD
Cytogenetic Map11p15.5UniSTS
HuRef111,571,741 - 1,571,972UniSTS
REN61184  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,780,438 - 1,780,670UniSTSGRCh37
Build 36111,737,014 - 1,737,246RGDNCBI36
Celera111,818,555 - 1,818,787RGD
Cytogenetic Map11p15.5UniSTS
HuRef111,571,442 - 1,571,674UniSTS
REN61185  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,780,040 - 1,780,269UniSTSGRCh37
Build 36111,736,616 - 1,736,845RGDNCBI36
Celera111,818,157 - 1,818,386RGD
Cytogenetic Map11p15.5UniSTS
HuRef111,571,044 - 1,571,273UniSTS
REN61186  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,779,795 - 1,780,020UniSTSGRCh37
Build 36111,736,371 - 1,736,596RGDNCBI36
Celera111,817,912 - 1,818,137RGD
Cytogenetic Map11p15.5UniSTS
HuRef111,570,799 - 1,571,024UniSTS
REN61187  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,779,559 - 1,779,819UniSTSGRCh37
Build 36111,736,135 - 1,736,395RGDNCBI36
Celera111,817,676 - 1,817,936RGD
Cytogenetic Map11p15.5UniSTS
HuRef111,570,563 - 1,570,823UniSTS
REN61188  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,779,242 - 1,779,467UniSTSGRCh37
Build 36111,735,818 - 1,736,043RGDNCBI36
Celera111,817,359 - 1,817,584RGD
Cytogenetic Map11p15.5UniSTS
HuRef111,570,246 - 1,570,471UniSTS
REN61189  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,779,021 - 1,779,263UniSTSGRCh37
Build 36111,735,597 - 1,735,839RGDNCBI36
Celera111,817,138 - 1,817,380RGD
Cytogenetic Map11p15.5UniSTS
HuRef111,570,025 - 1,570,267UniSTS
REN61190  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,778,814 - 1,779,039UniSTSGRCh37
Build 36111,735,390 - 1,735,615RGDNCBI36
Celera111,816,931 - 1,817,156RGD
Cytogenetic Map11p15.5UniSTS
HuRef111,569,818 - 1,570,043UniSTS
REN61191  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,778,565 - 1,778,820UniSTSGRCh37
Build 36111,735,141 - 1,735,396RGDNCBI36
Celera111,816,682 - 1,816,937RGD
Cytogenetic Map11p15.5UniSTS
HuRef111,569,569 - 1,569,824UniSTS
REN61192  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,778,348 - 1,778,580UniSTSGRCh37
Build 36111,734,924 - 1,735,156RGDNCBI36
Celera111,816,465 - 1,816,697RGD
Cytogenetic Map11p15.5UniSTS
HuRef111,569,352 - 1,569,584UniSTS
REN61193  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,777,994 - 1,778,246UniSTSGRCh37
Build 36111,734,570 - 1,734,822RGDNCBI36
Celera111,816,111 - 1,816,363RGD
Cytogenetic Map11p15.5UniSTS
HuRef111,568,998 - 1,569,250UniSTS
REN61194  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,777,681 - 1,777,918UniSTSGRCh37
Build 36111,734,257 - 1,734,494RGDNCBI36
Celera111,815,798 - 1,816,035RGD
Cytogenetic Map11p15.5UniSTS
HuRef111,568,685 - 1,568,922UniSTS
REN61195  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,777,324 - 1,777,573UniSTSGRCh37
Build 36111,733,900 - 1,734,149RGDNCBI36
Celera111,815,441 - 1,815,690RGD
Cytogenetic Map11p15.5UniSTS
HuRef111,568,328 - 1,568,577UniSTS
REN61196  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,776,873 - 1,777,117UniSTSGRCh37
Build 36111,733,449 - 1,733,693RGDNCBI36
Celera111,814,990 - 1,815,234RGD
Cytogenetic Map11p15.5UniSTS
HuRef111,567,877 - 1,568,121UniSTS
REN61197  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,776,650 - 1,776,889UniSTSGRCh37
Build 36111,733,226 - 1,733,465RGDNCBI36
Celera111,814,767 - 1,815,006RGD
Cytogenetic Map11p15.5UniSTS
HuRef111,567,654 - 1,567,893UniSTS
REN61198  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,776,414 - 1,776,668UniSTSGRCh37
Build 36111,732,990 - 1,733,244RGDNCBI36
Celera111,814,531 - 1,814,785RGD
Cytogenetic Map11p15.5UniSTS
HuRef111,567,418 - 1,567,672UniSTS
REN61199  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,776,209 - 1,776,437UniSTSGRCh37
Build 36111,732,785 - 1,733,013RGDNCBI36
Celera111,814,326 - 1,814,554RGD
Cytogenetic Map11p15.5UniSTS
HuRef111,567,213 - 1,567,441UniSTS
REN61200  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,775,993 - 1,776,219UniSTSGRCh37
Build 36111,732,569 - 1,732,795RGDNCBI36
Celera111,814,111 - 1,814,336RGD
Cytogenetic Map11p15.5UniSTS
HuRef111,566,998 - 1,567,223UniSTS
REN61203  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,775,300 - 1,775,524UniSTSGRCh37
Build 36111,731,876 - 1,732,100RGDNCBI36
Celera111,813,418 - 1,813,642RGD
Cytogenetic Map11p15.5UniSTS
HuRef111,566,190 - 1,566,414UniSTS
REN61204  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,774,921 - 1,775,154UniSTSGRCh37
Build 36111,731,497 - 1,731,730RGDNCBI36
Celera111,813,039 - 1,813,272RGD
Cytogenetic Map11p15.5UniSTS
HuRef111,565,811 - 1,566,044UniSTS
REN61205  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,774,684 - 1,774,931UniSTSGRCh37
Build 36111,731,260 - 1,731,507RGDNCBI36
Celera111,812,802 - 1,813,049RGD
Cytogenetic Map11p15.5UniSTS
HuRef111,565,574 - 1,565,821UniSTS
REN61206  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,774,411 - 1,774,654UniSTSGRCh37
Build 36111,730,987 - 1,731,230RGDNCBI36
Celera111,812,529 - 1,812,772RGD
Cytogenetic Map11p15.5UniSTS
HuRef111,565,301 - 1,565,544UniSTS
REN61207  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,774,178 - 1,774,420UniSTSGRCh37
Build 36111,730,754 - 1,730,996RGDNCBI36
Celera111,812,296 - 1,812,538RGD
Cytogenetic Map11p15.5UniSTS
HuRef111,565,068 - 1,565,310UniSTS
REN61208  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,773,966 - 1,774,200UniSTSGRCh37
Build 36111,730,542 - 1,730,776RGDNCBI36
Celera111,812,084 - 1,812,318RGD
Cytogenetic Map11p15.5UniSTS
HuRef111,564,856 - 1,565,090UniSTS
REN61209  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,773,717 - 1,773,987UniSTSGRCh37
Build 36111,730,293 - 1,730,563RGDNCBI36
Celera111,811,835 - 1,812,105RGD
Cytogenetic Map11p15.5UniSTS
HuRef111,564,607 - 1,564,877UniSTS
REN61210  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,773,501 - 1,773,738UniSTSGRCh37
Build 36111,730,077 - 1,730,314RGDNCBI36
Celera111,811,619 - 1,811,856RGD
Cytogenetic Map11p15.5UniSTS
HuRef111,564,391 - 1,564,628UniSTS
STS-M63138  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,773,647 - 1,773,802UniSTSGRCh37
Build 36111,730,223 - 1,730,378RGDNCBI36
Celera111,811,765 - 1,811,920RGD
Cytogenetic Map11p15.5UniSTS
HuRef111,564,537 - 1,564,692UniSTS
GeneMap99-GB4 RH Map1122.72UniSTS
NCBI RH Map1110.0UniSTS
CTSD  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,778,553 - 1,778,786UniSTSGRCh37
Build 36111,735,129 - 1,735,362RGDNCBI36
Celera111,816,670 - 1,816,903RGD
Cytogenetic Map11p15.5UniSTS
HuRef111,569,557 - 1,569,790UniSTS
GeneMap99-GB4 RH Map1122.82UniSTS
NCBI RH Map1110.0UniSTS
MARC_10183-10184:1004371792:5  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,780,217 - 1,780,828UniSTSGRCh37
Build 36111,736,793 - 1,737,404RGDNCBI36
Celera111,818,334 - 1,818,945RGD
HuRef111,571,221 - 1,571,832UniSTS
stSG548467  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,778,839 - 1,780,581UniSTSGRCh37
Build 36111,735,415 - 1,737,157RGDNCBI36
Celera111,816,956 - 1,818,698RGD
HuRef111,569,843 - 1,571,585UniSTS
stSG548468  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,780,754 - 1,782,094UniSTSGRCh37
Build 36111,737,330 - 1,738,670RGDNCBI36
Celera111,818,871 - 1,820,211RGD
HuRef111,571,758 - 1,573,098UniSTS
stSG548469  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,782,075 - 1,783,642UniSTSGRCh37
Build 36111,738,651 - 1,740,218RGDNCBI36
Celera111,820,192 - 1,821,759RGD
HuRef111,573,079 - 1,574,646UniSTS
stSG548470  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,783,621 - 1,783,800UniSTSGRCh37
Build 36111,740,197 - 1,740,376RGDNCBI36
Celera111,821,738 - 1,821,917RGD
HuRef111,574,625 - 1,574,804UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3119
Count of miRNA genes:890
Interacting mature miRNAs:1095
Transcripts:ENST00000236671, ENST00000367196, ENST00000429746, ENST00000433655, ENST00000438213, ENST00000497544
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 64 683 285 99 461 72 288 71 72 178 99 426 27 97 175
Medium 2368 2298 1438 523 1422 392 4067 2122 3635 239 1349 1182 144 1107 2613 4
Low 7 10 3 2 68 1 1 3 25 2 11 4 4 1 2 2
Below cutoff 2 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008655 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001909 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC068580 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH002629 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK130178 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC001574 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC016320 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM762986 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM976200 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT006910 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT020155 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471158 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR456947 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU794598 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178007 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178008 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L12980 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M11233 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S52557 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S74689 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X05344 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000236671   ⟹   ENSP00000236671
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl111,752,755 - 1,763,927 (-)Ensembl
RefSeq Acc Id: ENST00000367196   ⟹   ENSP00000356164
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl111,757,324 - 1,762,403 (-)Ensembl
RefSeq Acc Id: ENST00000429746   ⟹   ENSP00000402586
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl111,753,383 - 1,754,946 (-)Ensembl
RefSeq Acc Id: ENST00000433655   ⟹   ENSP00000404902
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl111,752,775 - 1,763,901 (-)Ensembl
RefSeq Acc Id: ENST00000438213   ⟹   ENSP00000415036
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl111,754,024 - 1,761,540 (-)Ensembl
RefSeq Acc Id: ENST00000497544
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl111,753,799 - 1,755,348 (-)Ensembl
RefSeq Acc Id: ENST00000636571   ⟹   ENSP00000490770
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl111,752,999 - 1,763,927 (-)Ensembl
RefSeq Acc Id: ENST00000636843   ⟹   ENSP00000490897
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl111,753,313 - 1,763,948 (-)Ensembl
RefSeq Acc Id: ENST00000637158
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl111,753,140 - 1,758,033 (-)Ensembl
RefSeq Acc Id: ENST00000637381   ⟹   ENSP00000490316
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl111,759,052 - 1,764,573 (-)Ensembl
RefSeq Acc Id: ENST00000637387   ⟹   ENSP00000490598
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl111,753,206 - 1,763,941 (-)Ensembl
RefSeq Acc Id: ENST00000637815   ⟹   ENSP00000490344
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl111,752,768 - 1,763,906 (-)Ensembl
RefSeq Acc Id: ENST00000637915   ⟹   ENSP00000490471
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl111,752,788 - 1,763,896 (-)Ensembl
RefSeq Acc Id: ENST00000637937
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl111,752,788 - 1,755,247 (-)Ensembl
RefSeq Acc Id: ENST00000677300
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl111,757,342 - 1,760,510 (-)Ensembl
RefSeq Acc Id: ENST00000678991   ⟹   ENSP00000503019
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl111,752,755 - 1,763,927 (-)Ensembl
RefSeq Acc Id: NM_001909   ⟹   NP_001900
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38111,752,755 - 1,763,927 (-)NCBI
GRCh37111,773,982 - 1,785,222 (-)ENTREZGENE
Build 36111,730,561 - 1,741,798 (-)NCBI Archive
HuRef111,564,872 - 1,576,226 (-)ENTREZGENE
CHM1_1111,772,933 - 1,784,154 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001900   ⟸   NM_001909
- Peptide Label: preproprotein
- UniProtKB: P07339 (UniProtKB/Swiss-Prot),   V9HWI3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000415036   ⟸   ENST00000438213
RefSeq Acc Id: ENSP00000490770   ⟸   ENST00000636571
RefSeq Acc Id: ENSP00000490897   ⟸   ENST00000636843
RefSeq Acc Id: ENSP00000490316   ⟸   ENST00000637381
RefSeq Acc Id: ENSP00000490598   ⟸   ENST00000637387
RefSeq Acc Id: ENSP00000490471   ⟸   ENST00000637915
RefSeq Acc Id: ENSP00000490344   ⟸   ENST00000637815
RefSeq Acc Id: ENSP00000402586   ⟸   ENST00000429746
RefSeq Acc Id: ENSP00000356164   ⟸   ENST00000367196
RefSeq Acc Id: ENSP00000236671   ⟸   ENST00000236671
RefSeq Acc Id: ENSP00000404902   ⟸   ENST00000433655
RefSeq Acc Id: ENSP00000503019   ⟸   ENST00000678991
Protein Domains
Peptidase A1

Promoters
RGD ID:6788658
Promoter ID:HG_KWN:11928
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell
Transcripts:OTTHUMT00000105335,   OTTHUMT00000105336
Position:
Human AssemblyChrPosition (strand)Source
Build 36111,733,556 - 1,734,056 (-)MPROMDB
RGD ID:6788659
Promoter ID:HG_KWN:11931
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:OTTHUMT00000105337
Position:
Human AssemblyChrPosition (strand)Source
Build 36111,739,651 - 1,740,151 (-)MPROMDB
RGD ID:6788657
Promoter ID:HG_KWN:11932
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour,   HeLa_S3,   K562
Transcripts:OTTHUMT00000105334
Position:
Human AssemblyChrPosition (strand)Source
Build 36111,740,371 - 1,740,871 (-)MPROMDB
RGD ID:6788421
Promoter ID:HG_KWN:11933
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000407742,   NM_053005,   OTTHUMT00000104272,   OTTHUMT00000105340,   UC001LTQ.1,   UC009YDA.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36111,741,644 - 1,742,144 (-)MPROMDB
RGD ID:7219283
Promoter ID:EPDNEW_H15387
Type:initiation region
Name:CTSD_2
Description:cathepsin D
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H15389  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38111,753,584 - 1,753,644EPDNEW
RGD ID:7219289
Promoter ID:EPDNEW_H15389
Type:initiation region
Name:CTSD_1
Description:cathepsin D
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H15387  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38111,763,927 - 1,763,987EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001909.5(CTSD):c.306C>T (p.Asn102=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000549337] Chr11:1759562 [GRCh38]
Chr11:1780792 [GRCh37]
Chr11:11p15.5
likely benign
NM_001909.5(CTSD):c.353-8C>T single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000527734] Chr11:1759095 [GRCh38]
Chr11:1780325 [GRCh37]
Chr11:11p15.5
likely benign
NM_001909.5(CTSD):c.131A>T (p.Glu44Val) single nucleotide variant not provided [RCV000520113] Chr11:1761406 [GRCh38]
Chr11:1782636 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_001909.5(CTSD):c.685T>A (p.Phe229Ile) single nucleotide variant Neuronal ceroid lipofuscinosis 10 [RCV000019134] Chr11:1757343 [GRCh38]
Chr11:1778573 [GRCh37]
Chr11:11p15.5
pathogenic
NM_001909.5(CTSD):c.1149G>C (p.Trp383Cys) single nucleotide variant Neuronal ceroid lipofuscinosis 10 [RCV000019135] Chr11:1753593 [GRCh38]
Chr11:1774823 [GRCh37]
Chr11:11p15.5
pathogenic
NM_001909.5(CTSD):c.764dup (p.Tyr255Ter) duplication Neuronal ceroid lipofuscinosis 10 [RCV000019136] Chr11:1754968..1754969 [GRCh38]
Chr11:1776198..1776199 [GRCh37]
Chr11:11p15.5
pathogenic
NM_001909.4:c.486-12G>A single nucleotide variant Neuronal ceroid lipofuscinosis 10 [RCV000087099] Chr11:11p15.5 pathogenic
NM_001909.5(CTSD):c.924G>A (p.Val308=) single nucleotide variant not provided [RCV000521730] Chr11:1754042 [GRCh38]
Chr11:1775272 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_001909.5(CTSD):c.199A>C (p.Ile67Leu) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000543988] Chr11:1761338 [GRCh38]
Chr11:1782568 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_001909.5(CTSD):c.566C>T (p.Thr189Ile) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000548431] Chr11:1757462 [GRCh38]
Chr11:1778692 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_001909.5(CTSD):c.135C>G (p.Asp45Glu) single nucleotide variant not provided [RCV000521394] Chr11:1761402 [GRCh38]
Chr11:1782632 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_001909.5(CTSD):c.470C>T (p.Ser157Leu) single nucleotide variant Neuronal ceroid lipofuscinosis 10 [RCV000087098]|Neuronal ceroid lipofuscinosis [RCV000804177] Chr11:1758970 [GRCh38]
Chr11:1780200 [GRCh37]
Chr11:11p15.5
pathogenic|uncertain significance
GRCh38/hg38 11p15.5-15.4(chr11:196966-3377077)x3 copy number gain See cases [RCV000050947] Chr11:196966..3377077 [GRCh38]
Chr11:196966..3398307 [GRCh37]
Chr11:186966..3354883 [NCBI36]
Chr11:11p15.5-15.4
pathogenic
GRCh38/hg38 11p15.5-15.4(chr11:196966-4435344)x3 copy number gain See cases [RCV000050927] Chr11:196966..4435344 [GRCh38]
Chr11:196966..4456574 [GRCh37]
Chr11:186966..4413150 [NCBI36]
Chr11:11p15.5-15.4
pathogenic
GRCh38/hg38 11p15.5(chr11:758848-1998025)x1 copy number loss See cases [RCV000052645] Chr11:758848..1998025 [GRCh38]
Chr11:758848..2019255 [GRCh37]
Chr11:748848..1975831 [NCBI36]
Chr11:11p15.5
pathogenic
GRCh38/hg38 11p15.5-15.4(chr11:218365-3377077)x3 copy number gain See cases [RCV000053614] Chr11:218365..3377077 [GRCh38]
Chr11:218365..3398307 [GRCh37]
Chr11:208365..3354883 [NCBI36]
Chr11:11p15.5-15.4
pathogenic
GRCh38/hg38 11p15.5-13(chr11:202758-31726224)x3 copy number gain See cases [RCV000053613] Chr11:202758..31726224 [GRCh38]
Chr11:202758..31747772 [GRCh37]
Chr11:192758..31704348 [NCBI36]
Chr11:11p15.5-13
pathogenic
GRCh38/hg38 11p15.5-15.4(chr11:196966-3624139)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053592]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053592]|See cases [RCV000053592] Chr11:196966..3624139 [GRCh38]
Chr11:196966..3645369 [GRCh37]
Chr11:186966..3601945 [NCBI36]
Chr11:11p15.5-15.4
pathogenic
NM_001909.5(CTSD):c.358C>T (p.His120Tyr) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001231083] Chr11:1759082 [GRCh38]
Chr11:1780312 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_001909.5(CTSD):c.1072-7G>A single nucleotide variant Neuronal ceroid lipofuscinosis 10 [RCV000614328]|Neuronal ceroid lipofuscinosis [RCV001083725]|not provided [RCV000675950]|not specified [RCV000116850] Chr11:1753677 [GRCh38]
Chr11:1774907 [GRCh37]
Chr11:11p15.5
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001909.5(CTSD):c.1137C>T (p.Ser379=) single nucleotide variant not specified [RCV000116851] Chr11:1753605 [GRCh38]
Chr11:1774835 [GRCh37]
Chr11:11p15.5
benign|likely benign
NM_001909.5(CTSD):c.1215C>A (p.Gly405=) single nucleotide variant Neuronal ceroid lipofuscinosis 10 [RCV000625067]|Neuronal ceroid lipofuscinosis [RCV000229710]|Seizures [RCV000715784]|not provided [RCV000675948]|not specified [RCV000116852] Chr11:1753527 [GRCh38]
Chr11:1774757 [GRCh37]
Chr11:11p15.5
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001909.5(CTSD):c.173C>T (p.Ala58Val) single nucleotide variant Neuronal ceroid lipofuscinosis 10 [RCV000625347]|Seizures [RCV000715749]|not provided [RCV000675959]|not specified [RCV000116853] Chr11:1761364 [GRCh38]
Chr11:1782594 [GRCh37]
Chr11:11p15.5
benign|likely benign|conflicting interpretations of pathogenicity
NM_001909.5(CTSD):c.189C>T (p.Thr63=) single nucleotide variant Neuronal ceroid lipofuscinosis 10 [RCV000625346]|Neuronal ceroid lipofuscinosis [RCV001084022]|Seizures [RCV000716525]|not provided [RCV000472044]|not specified [RCV000116854] Chr11:1761348 [GRCh38]
Chr11:1782578 [GRCh37]
Chr11:11p15.5
benign|likely benign|conflicting interpretations of pathogenicity
NM_001909.5(CTSD):c.231C>T (p.Ala77=) single nucleotide variant Neuronal ceroid lipofuscinosis 10 [RCV000625345]|Seizures [RCV000715763]|not provided [RCV000675958]|not specified [RCV000116855] Chr11:1759637 [GRCh38]
Chr11:1780867 [GRCh37]
Chr11:11p15.5
benign|likely benign|conflicting interpretations of pathogenicity
NM_001909.5(CTSD):c.465T>C (p.Thr155=) single nucleotide variant Neuronal ceroid lipofuscinosis 10 [RCV000625344]|Seizures [RCV000715173]|not provided [RCV000675955]|not specified [RCV000116856] Chr11:1758975 [GRCh38]
Chr11:1780205 [GRCh37]
Chr11:11p15.5
benign|likely benign|conflicting interpretations of pathogenicity
NM_001909.5(CTSD):c.844G>A (p.Gly282Arg) single nucleotide variant Neuronal ceroid lipofuscinosis 10 [RCV000625068]|Neuronal ceroid lipofuscinosis [RCV001079523]|Seizures [RCV000716794]|not provided [RCV000431476]|not specified [RCV000116857] Chr11:1754122 [GRCh38]
Chr11:1775352 [GRCh37]
Chr11:11p15.5
benign|likely benign|conflicting interpretations of pathogenicity
NM_001909.5(CTSD):c.828-19A>C single nucleotide variant not provided [RCV000675952]|not specified [RCV000124621] Chr11:1754157 [GRCh38]
Chr11:1775387 [GRCh37]
Chr11:11p15.5
benign|likely benign
NM_001909.5(CTSD):c.846G>A (p.Gly282=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000525344]|Seizures [RCV000715172]|not specified [RCV000179834] Chr11:1754120 [GRCh38]
Chr11:1775350 [GRCh37]
Chr11:11p15.5
benign
NM_001909.5(CTSD):c.912G>A (p.Pro304=) single nucleotide variant Neuronal ceroid lipofuscinosis 10 [RCV000262670]|Neuronal ceroid lipofuscinosis [RCV001082524]|Seizures [RCV000716321]|not provided [RCV000724427]|not specified [RCV000186625] Chr11:1754054 [GRCh38]
Chr11:1775284 [GRCh37]
Chr11:11p15.5
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001909.5(CTSD):c.951C>T (p.Ala317=) single nucleotide variant Neuronal ceroid lipofuscinosis 10 [RCV000268185]|Neuronal ceroid lipofuscinosis [RCV000473433]|Seizures [RCV000717418]|not specified [RCV000124625] Chr11:1754015 [GRCh38]
Chr11:1775245 [GRCh37]
Chr11:11p15.5
benign|likely benign
NM_001909.5(CTSD):c.1071+7G>A single nucleotide variant Neuronal ceroid lipofuscinosis 10 [RCV001103554]|Neuronal ceroid lipofuscinosis [RCV000475449]|not specified [RCV000124626] Chr11:1753796 [GRCh38]
Chr11:1775026 [GRCh37]
Chr11:11p15.5
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001909.5(CTSD):c.1071+12A>G single nucleotide variant Neuronal ceroid lipofuscinosis 10 [RCV001103553]|not specified [RCV000124627] Chr11:1753791 [GRCh38]
Chr11:1775021 [GRCh37]
Chr11:11p15.5
benign|uncertain significance
NM_001909.5(CTSD):c.1077G>A (p.Ser359=) single nucleotide variant not provided [RCV000675949]|not specified [RCV000124629] Chr11:1753665 [GRCh38]
Chr11:1774895 [GRCh37]
Chr11:11p15.5
benign|likely benign
NM_001909.5(CTSD):c.1122C>T (p.Asp374=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000632755]|not specified [RCV000124630] Chr11:1753620 [GRCh38]
Chr11:1774850 [GRCh37]
Chr11:11p15.5
benign|likely benign
NM_001909.5(CTSD):c.*19G>A single nucleotide variant Neuronal ceroid lipofuscinosis 10 [RCV000313453]|not specified [RCV000124631] Chr11:1753484 [GRCh38]
Chr11:1774714 [GRCh37]
Chr11:11p15.5
benign|uncertain significance
NM_001909.5(CTSD):c.153C>T (p.Pro51=) single nucleotide variant Seizures [RCV000720711]|not provided [RCV000867087]|not specified [RCV000124632] Chr11:1761384 [GRCh38]
Chr11:1782614 [GRCh37]
Chr11:11p15.5
benign|likely benign
NM_001909.5(CTSD):c.228C>T (p.Asp76=) single nucleotide variant not specified [RCV000124635] Chr11:1761309 [GRCh38]
Chr11:1782539 [GRCh37]
Chr11:11p15.5
benign
NM_001909.5(CTSD):c.228+18G>T single nucleotide variant not specified [RCV000124636] Chr11:1761291 [GRCh38]
Chr11:1782521 [GRCh37]
Chr11:11p15.5
benign
NM_001909.5(CTSD):c.240C>T (p.Tyr80=) single nucleotide variant Neuronal ceroid lipofuscinosis 10 [RCV001108794]|Neuronal ceroid lipofuscinosis [RCV000463645]|Seizures [RCV000720464]|not specified [RCV000124638] Chr11:1759628 [GRCh38]
Chr11:1780858 [GRCh37]
Chr11:11p15.5
benign|likely benign|uncertain significance
NM_001909.5(CTSD):c.261G>A (p.Thr87=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000865704]|not specified [RCV000124639] Chr11:1759607 [GRCh38]
Chr11:1780837 [GRCh37]
Chr11:11p15.5
benign|likely benign
NM_001909.5(CTSD):c.270G>A (p.Gln90=) single nucleotide variant not specified [RCV000124640] Chr11:1759598 [GRCh38]
Chr11:1780828 [GRCh37]
Chr11:11p15.5
benign
NM_001909.5(CTSD):c.294G>A (p.Thr98=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000706456]|not specified [RCV000124641] Chr11:1759574 [GRCh38]
Chr11:1780804 [GRCh37]
Chr11:11p15.5
benign|uncertain significance
NM_001909.5(CTSD):c.353-17C>T single nucleotide variant not provided [RCV000675957]|not specified [RCV000124642] Chr11:1759104 [GRCh38]
Chr11:1780334 [GRCh37]
Chr11:11p15.5
benign
NM_001909.5(CTSD):c.353-12C>T single nucleotide variant Neuronal ceroid lipofuscinosis 10 [RCV000602896]|not provided [RCV000675956]|not specified [RCV000124643] Chr11:1759099 [GRCh38]
Chr11:1780329 [GRCh37]
Chr11:11p15.5
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001909.5(CTSD):c.353-11G>A single nucleotide variant not specified [RCV000124644] Chr11:1759098 [GRCh38]
Chr11:1780328 [GRCh37]
Chr11:11p15.5
benign
NM_001909.5(CTSD):c.432G>A (p.Ser144=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000632715]|not specified [RCV000124645] Chr11:1759008 [GRCh38]
Chr11:1780238 [GRCh37]
Chr11:11p15.5
benign|uncertain significance
NM_001909.5(CTSD):c.471+15G>C single nucleotide variant not specified [RCV000124647] Chr11:1758954 [GRCh38]
Chr11:1780184 [GRCh37]
Chr11:11p15.5
benign
NM_001909.5(CTSD):c.-24C>T single nucleotide variant Neuronal ceroid lipofuscinosis 10 [RCV000264846]|not specified [RCV000124648] Chr11:1763883 [GRCh38]
Chr11:1785113 [GRCh37]
Chr11:11p15.5
benign|uncertain significance
NM_001909.5(CTSD):c.639C>G (p.Pro213=) single nucleotide variant Neuronal ceroid lipofuscinosis 10 [RCV000625343]|Neuronal ceroid lipofuscinosis [RCV001084602]|not provided [RCV000675953]|not specified [RCV000124649] Chr11:1757389 [GRCh38]
Chr11:1778619 [GRCh37]
Chr11:11p15.5
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001909.5(CTSD):c.704+6C>T single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001245840]|not specified [RCV000124650] Chr11:1757318 [GRCh38]
Chr11:1778548 [GRCh37]
Chr11:11p15.5
benign|uncertain significance
NM_001909.5(CTSD):c.827+13T>C single nucleotide variant Neuronal ceroid lipofuscinosis 10 [RCV000625069]|not specified [RCV000124651] Chr11:1754893 [GRCh38]
Chr11:1776123 [GRCh37]
Chr11:11p15.5
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3 copy number gain See cases [RCV000133997] Chr11:446754..18904742 [GRCh38]
Chr11:446754..18926289 [GRCh37]
Chr11:436754..18882865 [NCBI36]
Chr11:11p15.5-15.1
pathogenic
GRCh38/hg38 11p15.5-15.4(chr11:1537379-3360769)x3 copy number gain See cases [RCV000136847] Chr11:1537379..3360769 [GRCh38]
Chr11:1558609..3381999 [GRCh37]
Chr11:1515185..3338575 [NCBI36]
Chr11:11p15.5-15.4
pathogenic
GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3 copy number gain See cases [RCV000139987] Chr11:61793..10727969 [GRCh38]
Chr11:61793..10749516 [GRCh37]
Chr11:51793..10706092 [NCBI36]
Chr11:11p15.5-15.4
pathogenic
GRCh38/hg38 11p15.5-15.4(chr11:1132899-3213923)x1 copy number loss See cases [RCV000142464] Chr11:1132899..3213923 [GRCh38]
Chr11:1126807..3235153 [GRCh37]
Chr11:1116807..3191729 [NCBI36]
Chr11:11p15.5-15.4
pathogenic
GRCh38/hg38 11p15.5-15.4(chr11:196855-5321874)x3 copy number gain See cases [RCV000142890] Chr11:196855..5321874 [GRCh38]
Chr11:196855..5343104 [GRCh37]
Chr11:186855..5299680 [NCBI36]
Chr11:11p15.5-15.4
pathogenic
GRCh38/hg38 11p15.5(chr11:196855-2116185)x3 copy number gain See cases [RCV000142923] Chr11:196855..2116185 [GRCh38]
Chr11:196855..2137415 [GRCh37]
Chr11:186855..2093991 [NCBI36]
Chr11:11p15.5
pathogenic
NM_001909.5(CTSD):c.75G>A (p.Pro25=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001078653]|not provided [RCV000187304] Chr11:1761462 [GRCh38]
Chr11:1782692 [GRCh37]
Chr11:11p15.5
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001909.5(CTSD):c.1155_1169dup (p.Ile390_Gly391insMetGlyAspValPhe) duplication Exaggerated startle response [RCV000162114] Chr11:1753572..1753573 [GRCh38]
Chr11:1774802..1774803 [GRCh37]
Chr11:11p15.5
likely pathogenic
NM_001909.5(CTSD):c.267C>G (p.Pro89=) single nucleotide variant not provided [RCV000724386]|not specified [RCV000177142] Chr11:1759601 [GRCh38]
Chr11:1780831 [GRCh37]
Chr11:11p15.5
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001909.5(CTSD):c.1162G>A (p.Val388Ile) single nucleotide variant Neuronal ceroid lipofuscinosis 10 [RCV000395099]|Neuronal ceroid lipofuscinosis [RCV000808865]|not provided [RCV000726035] Chr11:1753580 [GRCh38]
Chr11:1774810 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_001909.5(CTSD):c.446G>T (p.Gly149Val) single nucleotide variant Neuronal ceroid lipofuscinosis 10 [RCV000190882] Chr11:1758994 [GRCh38]
Chr11:1780224 [GRCh37]
Chr11:11p15.5
pathogenic
NM_001909.5(CTSD):c.1196G>A (p.Arg399His) single nucleotide variant Neuronal ceroid lipofuscinosis 10 [RCV000190883] Chr11:1753546 [GRCh38]
Chr11:1774776 [GRCh37]
Chr11:11p15.5
pathogenic
NM_001909.5(CTSD):c.828-14_828-13del deletion not specified [RCV000187287] Chr11:1754151..1754152 [GRCh38]
Chr11:1775381..1775382 [GRCh37]
Chr11:11p15.5
benign
NM_001909.5(CTSD):c.497C>T (p.Ala166Val) single nucleotide variant not specified [RCV000187294] Chr11:1757531 [GRCh38]
Chr11:1778761 [GRCh37]
Chr11:11p15.5
likely benign
NM_001909.5(CTSD):c.982C>G (p.Pro328Ala) single nucleotide variant not provided [RCV000187298] Chr11:1753892 [GRCh38]
Chr11:1775122 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_001909.5(CTSD):c.1119G>C (p.Met373Ile) single nucleotide variant Neuronal ceroid lipofuscinosis 10 [RCV001108709]|Neuronal ceroid lipofuscinosis [RCV000810246] Chr11:1753623 [GRCh38]
Chr11:1774853 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_001909.5(CTSD):c.1211T>G (p.Val404Gly) single nucleotide variant not provided [RCV000187303] Chr11:1753531 [GRCh38]
Chr11:1774761 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_001909.5(CTSD):c.262C>G (p.Pro88Ala) single nucleotide variant not provided [RCV000187307] Chr11:1759606 [GRCh38]
Chr11:1780836 [GRCh37]
Chr11:11p15.5
likely pathogenic
NM_001909.5(CTSD):c.376G>A (p.Asp126Asn) single nucleotide variant not provided [RCV000187308] Chr11:1759064 [GRCh38]
Chr11:1780294 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_001909.5(CTSD):c.443C>T (p.Ser148Phe) single nucleotide variant not provided [RCV000187309] Chr11:1758997 [GRCh38]
Chr11:1780227 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_001909.5(CTSD):c.52G>C (p.Ala18Pro) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000687303]|Seizures [RCV000718706]|not provided [RCV000187311] Chr11:1763808 [GRCh38]
Chr11:1785038 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_001909.4(CTSD):c.502G>A (p.Ala168Thr) single nucleotide variant not specified [RCV000187312] Chr11:1757526 [GRCh38]
Chr11:1778756 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_001909.5(CTSD):c.561C>T (p.Gly187=) single nucleotide variant not provided [RCV000187313] Chr11:1757467 [GRCh38]
Chr11:1778697 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_001909.5(CTSD):c.1028G>A (p.Gly343Glu) single nucleotide variant not provided [RCV000187319] Chr11:1753846 [GRCh38]
Chr11:1775076 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_001909.5(CTSD):c.299C>T (p.Ser100Phe) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001207662]|not provided [RCV000187320] Chr11:1759569 [GRCh38]
Chr11:1780799 [GRCh37]
Chr11:11p15.5
pathogenic|likely pathogenic|uncertain significance
NM_001909.5(CTSD):c.957G>A (p.Pro319=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000554524]|not specified [RCV000187288] Chr11:1754009 [GRCh38]
Chr11:1775239 [GRCh37]
Chr11:11p15.5
benign|likely benign
NM_001909.5(CTSD):c.*11G>A single nucleotide variant not specified [RCV000187289] Chr11:1753492 [GRCh38]
Chr11:1774722 [GRCh37]
Chr11:11p15.5
likely benign
NM_001909.5(CTSD):c.69-17C>T single nucleotide variant not specified [RCV000187290] Chr11:1761485 [GRCh38]
Chr11:1782715 [GRCh37]
Chr11:11p15.5
benign
NM_001909.5(CTSD):c.154G>A (p.Val52Ile) single nucleotide variant Neuronal ceroid lipofuscinosis 10 [RCV001108795]|Neuronal ceroid lipofuscinosis [RCV000862792]|Seizures [RCV000716724]|not specified [RCV000187291] Chr11:1761383 [GRCh38]
Chr11:1782613 [GRCh37]
Chr11:11p15.5
likely benign|uncertain significance
NM_001909.5(CTSD):c.216G>A (p.Lys72=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000457610]|not specified [RCV000187292] Chr11:1761321 [GRCh38]
Chr11:1782551 [GRCh37]
Chr11:11p15.5
benign|likely benign
NM_001909.5(CTSD):c.14G>C (p.Ser5Thr) single nucleotide variant Neuronal ceroid lipofuscinosis 10 [RCV001103645]|Neuronal ceroid lipofuscinosis [RCV000796035]|not specified [RCV000187293] Chr11:1763846 [GRCh38]
Chr11:1785076 [GRCh37]
Chr11:11p15.5
likely benign|uncertain significance
NM_001909.5(CTSD):c.630C>T (p.Asn210=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000632738]|not specified [RCV000187295] Chr11:1757398 [GRCh38]
Chr11:1778628 [GRCh37]
Chr11:11p15.5
benign|likely benign
NM_001909.5(CTSD):c.877A>C (p.Ile293Leu) single nucleotide variant not provided [RCV000187296] Chr11:1754089 [GRCh38]
Chr11:1775319 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_001909.5(CTSD):c.928G>A (p.Glu310Lys) single nucleotide variant Neuronal ceroid lipofuscinosis 10 [RCV001105477]|Neuronal ceroid lipofuscinosis [RCV000705805]|not provided [RCV000187297] Chr11:1754038 [GRCh38]
Chr11:1775268 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_001909.5(CTSD):c.1150A>G (p.Ile384Val) single nucleotide variant not provided [RCV000187300] Chr11:1753592 [GRCh38]
Chr11:1774822 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_001909.4(CTSD):c.1175G>A (p.Arg392His) single nucleotide variant not specified [RCV000187301] Chr11:1753567 [GRCh38]
Chr11:1774797 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_001909.5(CTSD):c.1202A>G (p.Asn401Ser) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000632742]|not provided [RCV000187302] Chr11:1753540 [GRCh38]
Chr11:1774770 [GRCh37]
Chr11:11p15.5
likely benign|uncertain significance
NM_001909.5(CTSD):c.100C>T (p.Arg34Trp) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001085708]|Seizures [RCV000718768]|not provided [RCV000710114] Chr11:1761437 [GRCh38]
Chr11:1782667 [GRCh37]
Chr11:11p15.5
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001909.5(CTSD):c.241G>A (p.Gly81Arg) single nucleotide variant not provided [RCV000187306] Chr11:1759627 [GRCh38]
Chr11:1780857 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_001909.5(CTSD):c.8C>T (p.Pro3Leu) single nucleotide variant Neuronal ceroid lipofuscinosis 10 [RCV000763725]|Neuronal ceroid lipofuscinosis [RCV000231366]|not provided [RCV000727458] Chr11:1763852 [GRCh38]
Chr11:1785082 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_001909.5(CTSD):c.751G>A (p.Asp251Asn) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000541141]|not provided [RCV000187314] Chr11:1754982 [GRCh38]
Chr11:1776212 [GRCh37]
Chr11:11p15.5
likely pathogenic|uncertain significance
NM_001909.5(CTSD):c.758A>G (p.Lys253Arg) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001041227]|not provided [RCV000187315] Chr11:1754975 [GRCh38]
Chr11:1776205 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_001909.5(CTSD):c.796C>T (p.Arg266Cys) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000817194]|not provided [RCV000187316] Chr11:1754937 [GRCh38]
Chr11:1776167 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_001909.5(CTSD):c.926G>A (p.Arg309His) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000864860]|Seizures [RCV000717406]|not specified [RCV000187317] Chr11:1754040 [GRCh38]
Chr11:1775270 [GRCh37]
Chr11:11p15.5
benign|likely benign|uncertain significance
NM_001909.5(CTSD):c.956C>T (p.Pro319Leu) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001044040]|not provided [RCV000187318] Chr11:1754010 [GRCh38]
Chr11:1775240 [GRCh37]
Chr11:11p15.5
uncertain significance
GRCh37/hg19 11p15.5-15.4(chr11:193187-5291338)x3 copy number gain See cases [RCV000446036] Chr11:193187..5291338 [GRCh37]
Chr11:11p15.5-15.4
pathogenic
Single allele complex Ductal breast carcinoma [RCV000207104] Chr11:870446..1857751 [GRCh37]
Chr11:11p15.5
uncertain significance
chr11:1092954..1857751 complex variant complex Ductal breast carcinoma [RCV000207239] Chr11:1092954..1857751 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_001909.5(CTSD):c.241G>T (p.Gly81Trp) single nucleotide variant not provided [RCV000224560] Chr11:1759627 [GRCh38]
Chr11:1780857 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_001909.5(CTSD):c.352+10G>C single nucleotide variant not provided [RCV000232571]|not specified [RCV000615880] Chr11:1759506 [GRCh38]
Chr11:1780736 [GRCh37]
Chr11:11p15.5
likely benign
GRCh37/hg19 11p15.5(chr11:1774508-1785629)x3 copy number gain See cases [RCV000239868] Chr11:1774508..1785629 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_001909.5(CTSD):c.1009G>A (p.Ala337Thr) single nucleotide variant Neuronal ceroid lipofuscinosis 10 [RCV000308097]|Neuronal ceroid lipofuscinosis [RCV001084655]|not provided [RCV000725129]|not specified [RCV000371431] Chr11:1753865 [GRCh38]
Chr11:1775095 [GRCh37]
Chr11:11p15.5
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001909.5(CTSD):c.828-17G>A single nucleotide variant Neuronal ceroid lipofuscinosis 10 [RCV000625342]|not provided [RCV000675951]|not specified [RCV000253879] Chr11:1754155 [GRCh38]
Chr11:1775385 [GRCh37]
Chr11:11p15.5
benign
NM_001909.5(CTSD):c.89C>T (p.Thr30Met) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001060632]|not provided [RCV000522018] Chr11:1761448 [GRCh38]
Chr11:1782678 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_001909.5(CTSD):c.*117C>T single nucleotide variant Neuronal ceroid lipofuscinosis 10 [RCV000281653] Chr11:1753386 [GRCh38]
Chr11:1774616 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_001909.5(CTSD):c.*694G>A single nucleotide variant Neuronal ceroid lipofuscinosis 10 [RCV000368359] Chr11:1752809 [GRCh38]
Chr11:1774039 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_001909.5(CTSD):c.*358C>T single nucleotide variant Neuronal ceroid lipofuscinosis 10 [RCV000323052] Chr11:1753145 [GRCh38]
Chr11:1774375 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_001909.5(CTSD):c.-37G>A single nucleotide variant Neuronal ceroid lipofuscinosis 10 [RCV000303572]|not specified [RCV000443172] Chr11:1763896 [GRCh38]
Chr11:1785126 [GRCh37]
Chr11:11p15.5
likely benign|uncertain significance
NM_001909.5(CTSD):c.90G>A (p.Thr30=) single nucleotide variant Neuronal ceroid lipofuscinosis 10 [RCV000304091]|Neuronal ceroid lipofuscinosis [RCV000632764]|Seizures [RCV000718181]|not specified [RCV000443329] Chr11:1761447 [GRCh38]
Chr11:1782677 [GRCh37]
Chr11:11p15.5
likely benign|uncertain significance
NM_001909.5(CTSD):c.*654C>T single nucleotide variant Neuronal ceroid lipofuscinosis 10 [RCV000271530] Chr11:1752849 [GRCh38]
Chr11:1774079 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_001909.5(CTSD):c.*403C>T single nucleotide variant Neuronal ceroid lipofuscinosis 10 [RCV000289130] Chr11:1753100 [GRCh38]
Chr11:1774330 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_001909.5(CTSD):c.*597A>C single nucleotide variant Neuronal ceroid lipofuscinosis 10 [RCV000328943] Chr11:1752906 [GRCh38]
Chr11:1774136 [GRCh37]
Chr11:11p15.5
benign|likely benign
NM_001909.5(CTSD):c.111G>C (p.Ser37=) single nucleotide variant Neuronal ceroid lipofuscinosis 10 [RCV000404301] Chr11:1761426 [GRCh38]
Chr11:1782656 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_001909.5(CTSD):c.*67A>G single nucleotide variant Neuronal ceroid lipofuscinosis 10 [RCV000334480] Chr11:1753436 [GRCh38]
Chr11:1774666 [GRCh37]
Chr11:11p15.5
benign|likely benign
NM_001909.5(CTSD):c.*140G>T single nucleotide variant Neuronal ceroid lipofuscinosis 10 [RCV000408142] Chr11:1753363 [GRCh38]
Chr11:1774593 [GRCh37]
Chr11:11p15.5
likely benign|uncertain significance
NM_001909.5(CTSD):c.660G>C (p.Gln220His) single nucleotide variant Neuronal ceroid lipofuscinosis 10 [RCV000280332] Chr11:1757368 [GRCh38]
Chr11:1778598 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_001909.5(CTSD):c.-53C>T single nucleotide variant Neuronal ceroid lipofuscinosis 10 [RCV000263495] Chr11:1763912 [GRCh38]
Chr11:1785142 [GRCh37]
Chr11:11p15.5
likely benign|uncertain significance
NM_001909.5(CTSD):c.*342C>T single nucleotide variant Neuronal ceroid lipofuscinosis 10 [RCV000282795] Chr11:1753161 [GRCh38]
Chr11:1774391 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_001909.5(CTSD):c.946G>A (p.Gly316Arg) single nucleotide variant Neuronal ceroid lipofuscinosis 10 [RCV000320938] Chr11:1754020 [GRCh38]
Chr11:1775250 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_001909.5(CTSD):c.1084G>A (p.Gly362Arg) single nucleotide variant Neuronal ceroid lipofuscinosis 10 [RCV000366378]|Neuronal ceroid lipofuscinosis [RCV000693378] Chr11:1753658 [GRCh38]
Chr11:1774888 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_001909.5(CTSD):c.*736C>G single nucleotide variant Neuronal ceroid lipofuscinosis 10 [RCV000330067] Chr11:1752767 [GRCh38]
Chr11:1773997 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_001909.5(CTSD):c.972+10G>A single nucleotide variant not provided [RCV000725998]|not specified [RCV000389907] Chr11:1753984 [GRCh38]
Chr11:1775214 [GRCh37]
Chr11:11p15.5
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001909.5(CTSD):c.1116C>T (p.Gly372=) single nucleotide variant Neuronal ceroid lipofuscinosis 10 [RCV000309391]|Neuronal ceroid lipofuscinosis [RCV000560295]|not specified [RCV000426380] Chr11:1753626 [GRCh38]
Chr11:1774856 [GRCh37]
Chr11:11p15.5
benign|likely benign|uncertain significance
NM_001909.5(CTSD):c.-12_-10GCC[5] (p.Met1_Gln2insAla) microsatellite not provided [RCV000398094] Chr11:1763859..1763860 [GRCh38]
Chr11:1785089..1785090 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_001909.5(CTSD):c.346G>A (p.Ala116Thr) single nucleotide variant not provided [RCV000326932] Chr11:1759522 [GRCh38]
Chr11:1780752 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_001909.5(CTSD):c.-3G>T single nucleotide variant Neuronal ceroid lipofuscinosis 10 [RCV000361174] Chr11:1763862 [GRCh38]
Chr11:1785092 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_001909.5(CTSD):c.*300G>A single nucleotide variant Neuronal ceroid lipofuscinosis 10 [RCV000340202] Chr11:1753203 [GRCh38]
Chr11:1774433 [GRCh37]
Chr11:11p15.5
benign|likely benign
NM_001909.5(CTSD):c.411G>A (p.Ser137=) single nucleotide variant not provided [RCV000595979] Chr11:1759029 [GRCh38]
Chr11:1780259 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_001909.5(CTSD):c.*356C>G single nucleotide variant Neuronal ceroid lipofuscinosis 10 [RCV000379954] Chr11:1753147 [GRCh38]
Chr11:1774377 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_001909.5(CTSD):c.*574C>T single nucleotide variant Neuronal ceroid lipofuscinosis 10 [RCV000380993] Chr11:1752929 [GRCh38]
Chr11:1774159 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_001909.4(CTSD):c.-132_-131insCCCGC microsatellite Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive [RCV000316369] Chr11:1763990..1763991 [GRCh38]
Chr11:1785220..1785221 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_001909.5(CTSD):c.*58C>T single nucleotide variant Neuronal ceroid lipofuscinosis 10 [RCV000406144] Chr11:1753445 [GRCh38]
Chr11:1774675 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_001909.5(CTSD):c.1159G>A (p.Asp387Asn) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000698402]|not provided [RCV000597487] Chr11:1753583 [GRCh38]
Chr11:1774813 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_001909.5(CTSD):c.659A>C (p.Gln220Pro) single nucleotide variant Neuronal ceroid lipofuscinosis 10 [RCV000351658] Chr11:1757369 [GRCh38]
Chr11:1778599 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_001909.5(CTSD):c.-47A>G single nucleotide variant Neuronal ceroid lipofuscinosis 10 [RCV000355994] Chr11:1763906 [GRCh38]
Chr11:1785136 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_001909.5(CTSD):c.940G>A (p.Ala314Thr) single nucleotide variant Neuronal ceroid lipofuscinosis 10 [RCV000378283] Chr11:1754026 [GRCh38]
Chr11:1775256 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_001909.5(CTSD):c.973-8C>A single nucleotide variant Neuronal ceroid lipofuscinosis 10 [RCV000360520] Chr11:1753909 [GRCh38]
Chr11:1775139 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_001909.5(CTSD):c.63C>T (p.Leu21=) single nucleotide variant not provided [RCV000596155] Chr11:1763797 [GRCh38]
Chr11:1785027 [GRCh37]
Chr11:11p15.5
conflicting interpretations of pathogenicity|uncertain significance
NM_001909.5(CTSD):c.704+7G>A single nucleotide variant not provided [RCV000591071] Chr11:1757317 [GRCh38]
Chr11:1778547 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_001909.5(CTSD):c.271T>C (p.Cys91Arg) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000537256] Chr11:1759597 [GRCh38]
Chr11:1780827 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_001909.5(CTSD):c.1185T>G (p.Thr395=) single nucleotide variant not provided [RCV000733905] Chr11:1753557 [GRCh38]
Chr11:1774787 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_001909.5(CTSD):c.1010C>T (p.Ala337Val) single nucleotide variant not specified [RCV000412883] Chr11:1753864 [GRCh38]
Chr11:1775094 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_001909.5(CTSD):c.770G>C (p.Gly257Ala) single nucleotide variant not specified [RCV000413884] Chr11:1754963 [GRCh38]
Chr11:1776193 [GRCh37]
Chr11:11p15.5
uncertain significance
GRCh37/hg19 11p15.5-15.4(chr11:230615-6644927)x3 copy number gain See cases [RCV000449417] Chr11:230615..6644927 [GRCh37]
Chr11:11p15.5-15.4
pathogenic
NM_001909.5(CTSD):c.552G>A (p.Lys184=) single nucleotide variant not specified [RCV000427553] Chr11:1757476 [GRCh38]
Chr11:1778706 [GRCh37]
Chr11:11p15.5
likely benign
NM_001909.5(CTSD):c.69-16G>A single nucleotide variant not specified [RCV000434347] Chr11:1761484 [GRCh38]
Chr11:1782714 [GRCh37]
Chr11:11p15.5
likely benign
NM_001909.5(CTSD):c.828-5C>T single nucleotide variant Seizures [RCV000720784]|not specified [RCV000441533] Chr11:1754143 [GRCh38]
Chr11:1775373 [GRCh37]
Chr11:11p15.5
likely benign|uncertain significance
NM_001909.5(CTSD):c.*15G>A single nucleotide variant not specified [RCV000445115] Chr11:1753488 [GRCh38]
Chr11:1774718 [GRCh37]
Chr11:11p15.5
likely benign
NM_001909.5(CTSD):c.472-15T>C single nucleotide variant not specified [RCV000445230] Chr11:1757571 [GRCh38]
Chr11:1778801 [GRCh37]
Chr11:11p15.5
likely benign
NM_001909.5(CTSD):c.705-4C>T single nucleotide variant not specified [RCV000418016] Chr11:1755032 [GRCh38]
Chr11:1776262 [GRCh37]
Chr11:11p15.5
likely benign
NM_001909.5(CTSD):c.*17G>A single nucleotide variant not specified [RCV000420930] Chr11:1753486 [GRCh38]
Chr11:1774716 [GRCh37]
Chr11:11p15.5
likely benign
NM_001909.5(CTSD):c.827+9T>A single nucleotide variant not specified [RCV000438246] Chr11:1754897 [GRCh38]
Chr11:1776127 [GRCh37]
Chr11:11p15.5
likely benign
NM_001909.5(CTSD):c.-32C>T single nucleotide variant not specified [RCV000424377] Chr11:1763891 [GRCh38]
Chr11:1785121 [GRCh37]
Chr11:11p15.5
likely benign
NM_001909.5(CTSD):c.68+10C>G single nucleotide variant not specified [RCV000421192] Chr11:1763782 [GRCh38]
Chr11:1785012 [GRCh37]
Chr11:11p15.5
likely benign
NM_001909.5(CTSD):c.69-17C>A single nucleotide variant not specified [RCV000431899] Chr11:1761485 [GRCh38]
Chr11:1782715 [GRCh37]
Chr11:11p15.5
likely benign
NM_001909.5(CTSD):c.621C>A (p.Ser207=) single nucleotide variant not specified [RCV000435141] Chr11:1757407 [GRCh38]
Chr11:1778637 [GRCh37]
Chr11:11p15.5
likely benign
NM_001909.5(CTSD):c.1071+9G>A single nucleotide variant not specified [RCV000421297] Chr11:1753794 [GRCh38]
Chr11:1775024 [GRCh37]
Chr11:11p15.5
likely benign
NM_001909.5(CTSD):c.-40C>T single nucleotide variant not specified [RCV000442438] Chr11:1763899 [GRCh38]
Chr11:1785129 [GRCh37]
Chr11:11p15.5
likely benign
NM_001909.5(CTSD):c.393C>T (p.Tyr131=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000538080]|not specified [RCV000425322] Chr11:1759047 [GRCh38]
Chr11:1780277 [GRCh37]
Chr11:11p15.5
likely benign
NM_001909.5(CTSD):c.972+7G>A single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000469583]|not specified [RCV000443050] Chr11:1753987 [GRCh38]
Chr11:1775217 [GRCh37]
Chr11:11p15.5
likely benign
NM_001909.5(CTSD):c.489G>A (p.Ala163=) single nucleotide variant not specified [RCV000439455] Chr11:1757539 [GRCh38]
Chr11:1778769 [GRCh37]
Chr11:11p15.5
likely benign
NM_001909.5(CTSD):c.68+10C>T single nucleotide variant not specified [RCV000436222] Chr11:1763782 [GRCh38]
Chr11:1785012 [GRCh37]
Chr11:11p15.5
likely benign
NM_001909.5(CTSD):c.*14C>T single nucleotide variant not specified [RCV000419827] Chr11:1753489 [GRCh38]
Chr11:1774719 [GRCh37]
Chr11:11p15.5
likely benign
NM_001909.5(CTSD):c.1230C>T (p.Ala410=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000467737]|Seizures [RCV000718373]|not specified [RCV000422494] Chr11:1753512 [GRCh38]
Chr11:1774742 [GRCh37]
Chr11:11p15.5
likely benign
NM_001909.5(CTSD):c.828-18C>T single nucleotide variant not specified [RCV000436388] Chr11:1754156 [GRCh38]
Chr11:1775386 [GRCh37]
Chr11:11p15.5
benign
NM_001909.5(CTSD):c.636G>T (p.Leu212=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000632760]|not specified [RCV000439920] Chr11:1757392 [GRCh38]
Chr11:1778622 [GRCh37]
Chr11:11p15.5
likely benign
NM_001909.5(CTSD):c.510C>T (p.Gly170=) single nucleotide variant not specified [RCV000443594] Chr11:1757518 [GRCh38]
Chr11:1778748 [GRCh37]
Chr11:11p15.5
likely benign
NM_001909.5(CTSD):c.-30G>C single nucleotide variant not specified [RCV000420042] Chr11:1763889 [GRCh38]
Chr11:1785119 [GRCh37]
Chr11:11p15.5
likely benign
NM_001909.5(CTSD):c.817C>T (p.His273Tyr) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001037357]|not provided [RCV000420091] Chr11:1754916 [GRCh38]
Chr11:1776146 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_001909.5(CTSD):c.*10C>T single nucleotide variant not specified [RCV000436618] Chr11:1753493 [GRCh38]
Chr11:1774723 [GRCh37]
Chr11:11p15.5
likely benign
NM_001909.5(CTSD):c.534C>G (p.Val178=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000869440]|not specified [RCV000436645] Chr11:1757494 [GRCh38]
Chr11:1778724 [GRCh37]
Chr11:11p15.5
likely benign
NM_001909.5(CTSD):c.*4C>G single nucleotide variant not specified [RCV000429936] Chr11:1753499 [GRCh38]
Chr11:1774729 [GRCh37]
Chr11:11p15.5
likely benign
NM_001909.5(CTSD):c.945C>T (p.Ile315=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000870278]|not specified [RCV000444153] Chr11:1754021 [GRCh38]
Chr11:1775251 [GRCh37]
Chr11:11p15.5
likely benign
NM_001909.5(CTSD):c.1071+12A>T single nucleotide variant not specified [RCV000430515] Chr11:1753791 [GRCh38]
Chr11:1775021 [GRCh37]
Chr11:11p15.5
likely benign
NM_001909.5(CTSD):c.683_685TCT[1] (p.Phe229del) microsatellite Neuronal ceroid lipofuscinosis 10 [RCV000417103] Chr11:1757340..1757342 [GRCh38]
Chr11:1778570..1778572 [GRCh37]
Chr11:11p15.5
likely pathogenic
NM_001909.5(CTSD):c.184G>A (p.Val62Met) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000461942] Chr11:1761353 [GRCh38]
Chr11:1782583 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_001909.5(CTSD):c.1208G>C (p.Arg403Thr) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000463026] Chr11:1753534 [GRCh38]
Chr11:1774764 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_001909.5(CTSD):c.180A>G (p.Pro60=) single nucleotide variant Seizures [RCV000718590]|not provided [RCV000464150] Chr11:1761357 [GRCh38]
Chr11:1782587 [GRCh37]
Chr11:11p15.5
likely benign
NM_001909.5(CTSD):c.408C>G (p.Thr136=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000464513] Chr11:1759032 [GRCh38]
Chr11:1780262 [GRCh37]
Chr11:11p15.5
likely benign
NM_001909.5(CTSD):c.891C>T (p.Gly297=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000469818] Chr11:1754075 [GRCh38]
Chr11:1775305 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_001909.5(CTSD):c.1071+6C>T single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000471585] Chr11:1753797 [GRCh38]
Chr11:1775027 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_001909.5(CTSD):c.511G>A (p.Gly171Ser) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000476391] Chr11:1757517 [GRCh38]
Chr11:1778747 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_001909.5(CTSD):c.345C>T (p.Ile115=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000477425] Chr11:1759523 [GRCh38]
Chr11:1780753 [GRCh37]
Chr11:11p15.5
likely benign
NM_001909.5(CTSD):c.704+5G>A single nucleotide variant not provided [RCV000483526] Chr11:1757319 [GRCh38]
Chr11:1778549 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_001909.5(CTSD):c.283G>A (p.Val95Ile) single nucleotide variant Neuronal ceroid lipofuscinosis 10 [RCV001106639]|Neuronal ceroid lipofuscinosis [RCV000796838]|not provided [RCV000483803] Chr11:1759585 [GRCh38]
Chr11:1780815 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_001909.5(CTSD):c.488C>T (p.Ala163Val) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000456725] Chr11:1757540 [GRCh38]
Chr11:1778770 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_001909.5(CTSD):c.64G>T (p.Val22Phe) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000457838] Chr11:1763796 [GRCh38]
Chr11:1785026 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_001909.5(CTSD):c.1210G>T (p.Val404Leu) single nucleotide variant not provided [RCV000498815] Chr11:1753532 [GRCh38]
Chr11:1774762 [GRCh37]
Chr11:11p15.5
uncertain significance
GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3 copy number gain See cases [RCV000511561] Chr11:230615..37698540 [GRCh37]
Chr11:11p15.5-12
pathogenic
NM_001909.5(CTSD):c.7C>T (p.Pro3Ser) single nucleotide variant not provided [RCV000494107] Chr11:1763853 [GRCh38]
Chr11:1785083 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_001909.5(CTSD):c.268dup (p.Gln90fs) duplication not provided [RCV000494186] Chr11:1759599..1759600 [GRCh38]
Chr11:1780829..1780830 [GRCh37]
Chr11:11p15.5
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
NM_001909.5(CTSD):c.653T>C (p.Leu218Pro) single nucleotide variant not provided [RCV000493037] Chr11:1757375 [GRCh38]
Chr11:1778605 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_001909.5(CTSD):c.471G>A (p.Ser157=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000701864]|Seizures [RCV000720420] Chr11:1758969 [GRCh38]
Chr11:1780199 [GRCh37]
Chr11:11p15.5
uncertain significance
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
NM_001909.5(CTSD):c.592A>G (p.Ile198Val) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000632710]|Seizures [RCV001255002] Chr11:1757436 [GRCh38]
Chr11:1778666 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_001909.5(CTSD):c.352+8A>T single nucleotide variant not provided [RCV000632757] Chr11:1759508 [GRCh38]
Chr11:1780738 [GRCh37]
Chr11:11p15.5
likely benign
NM_001909.5(CTSD):c.993G>C (p.Lys331Asn) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000632681] Chr11:1753881 [GRCh38]
Chr11:1775111 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_001909.5(CTSD):c.101G>A (p.Arg34Gln) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000632712] Chr11:1761436 [GRCh38]
Chr11:1782666 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_001909.5(CTSD):c.1235T>G (p.Leu412Arg) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000632718] Chr11:1753507 [GRCh38]
Chr11:1774737 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_001909.5(CTSD):c.933G>A (p.Leu311=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000632728] Chr11:1754033 [GRCh38]
Chr11:1775263 [GRCh37]
Chr11:11p15.5
likely benign
NM_001909.5(CTSD):c.972+9C>T single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001088576]|not provided [RCV000733126] Chr11:1753985 [GRCh38]
Chr11:1775215 [GRCh37]
Chr11:11p15.5
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001909.5(CTSD):c.1023G>A (p.Lys341=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000632753]|not provided [RCV000827569] Chr11:1753851 [GRCh38]
Chr11:1775081 [GRCh37]
Chr11:11p15.5
likely benign
NM_001909.5(CTSD):c.410C>T (p.Ser137Leu) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000632767]|Seizures [RCV000717164] Chr11:1759030 [GRCh38]
Chr11:1780260 [GRCh37]
Chr11:11p15.5
likely benign|uncertain significance
NM_001909.5(CTSD):c.816C>A (p.Val272=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000632771] Chr11:1754917 [GRCh38]
Chr11:1776147 [GRCh37]
Chr11:11p15.5
likely benign
NM_001909.5(CTSD):c.867C>T (p.Gly289=) single nucleotide variant not specified [RCV000612256] Chr11:1754099 [GRCh38]
Chr11:1775329 [GRCh37]
Chr11:11p15.5
likely benign
NM_001909.5(CTSD):c.627C>T (p.Asn209=) single nucleotide variant not specified [RCV000614996] Chr11:1757401 [GRCh38]
Chr11:1778631 [GRCh37]
Chr11:11p15.5
likely benign
NM_001909.5(CTSD):c.-45A>G single nucleotide variant not specified [RCV000612989] Chr11:1763904 [GRCh38]
Chr11:1785134 [GRCh37]
Chr11:11p15.5
likely benign
NM_001909.5(CTSD):c.69-12C>T single nucleotide variant not specified [RCV000613096] Chr11:1761480 [GRCh38]
Chr11:1782710 [GRCh37]
Chr11:11p15.5
likely benign
NM_001909.5(CTSD):c.1221C>T (p.Ala407=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000533638] Chr11:1753521 [GRCh38]
Chr11:1774751 [GRCh37]
Chr11:11p15.5
likely benign
NM_001909.5(CTSD):c.492G>A (p.Ser164=) single nucleotide variant not provided [RCV000914216]|not specified [RCV000616807] Chr11:1757536 [GRCh38]
Chr11:1778766 [GRCh37]
Chr11:11p15.5
likely benign
NM_001909.5(CTSD):c.828-4G>A single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000632727]|not specified [RCV000611128] Chr11:1754142 [GRCh38]
Chr11:1775372 [GRCh37]
Chr11:11p15.5
likely benign
NM_001909.5(CTSD):c.882G>A (p.Val294=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000539647] Chr11:1754084 [GRCh38]
Chr11:1775314 [GRCh37]
Chr11:11p15.5
likely benign
NM_001909.5(CTSD):c.19C>G (p.Leu7Val) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000558802] Chr11:1763841 [GRCh38]
Chr11:1785071 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_001909.5(CTSD):c.780C>T (p.Ser260=) single nucleotide variant not specified [RCV000604029] Chr11:1754953 [GRCh38]
Chr11:1776183 [GRCh37]
Chr11:11p15.5
likely benign
NM_001909.5(CTSD):c.111G>A (p.Ser37=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000632708]|not provided [RCV000711336] Chr11:1761426 [GRCh38]
Chr11:1782656 [GRCh37]
Chr11:11p15.5
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001909.5(CTSD):c.1128G>A (p.Pro376=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000632733] Chr11:1753614 [GRCh38]
Chr11:1774844 [GRCh37]
Chr11:11p15.5
likely benign
NM_001909.5(CTSD):c.-36G>C single nucleotide variant not specified [RCV000605540] Chr11:1763895 [GRCh38]
Chr11:1785125 [GRCh37]
Chr11:11p15.5
likely benign
NM_001909.5(CTSD):c.704+18C>T single nucleotide variant not specified [RCV000607652] Chr11:1757306 [GRCh38]
Chr11:1778536 [GRCh37]
Chr11:11p15.5
likely benign
GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3 copy number gain See cases [RCV000512225] Chr11:230615..25584362 [GRCh37]
Chr11:11p15.5-14.3
pathogenic
GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3 copy number gain See cases [RCV000512477] Chr11:230615..31995219 [GRCh37]
Chr11:11p15.5-13
pathogenic
GRCh37/hg19 11p15.5(chr11:1690968-2277648)x3 copy number gain See cases [RCV000512345] Chr11:1690968..2277648 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_001909.5(CTSD):c.76C>A (p.Leu26Met) single nucleotide variant not provided [RCV000658314] Chr11:1761461 [GRCh38]
Chr11:1782691 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_001909.5(CTSD):c.229-19G>A single nucleotide variant not provided [RCV000658402] Chr11:1759658 [GRCh38]
Chr11:1780888 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_001909.5(CTSD):c.253A>G (p.Ile85Val) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000688842] Chr11:1759615 [GRCh38]
Chr11:1780845 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_001909.5(CTSD):c.37C>T (p.Leu13=) single nucleotide variant Seizures [RCV000716766] Chr11:1763823 [GRCh38]
Chr11:1785053 [GRCh37]
Chr11:11p15.5
likely benign
NM_001909.5(CTSD):c.1236C>G (p.Leu412=) single nucleotide variant Seizures [RCV000717158] Chr11:1753506 [GRCh38]
Chr11:1774736 [GRCh37]
Chr11:11p15.5
likely benign
NM_001909.5(CTSD):c.613C>T (p.Arg205Cys) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000807444]|not provided [RCV000675954] Chr11:1757415 [GRCh38]
Chr11:1778645 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_001909.5(CTSD):c.353-6G>A single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000692615] Chr11:1759093 [GRCh38]
Chr11:1780323 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_001909.5(CTSD):c.190G>A (p.Glu64Lys) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000697591] Chr11:1761347 [GRCh38]
Chr11:1782577 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_001909.5(CTSD):c.465_466inv (p.Val156Met) inversion Neuronal ceroid lipofuscinosis [RCV000688522] Chr11:1758974..1758975 [GRCh38]
Chr11:1780204..1780205 [GRCh37]
Chr11:11p15.5
uncertain significance
GRCh37/hg19 11p15.5-15.1(chr11:230615-17099213)x3 copy number gain not provided [RCV000683372] Chr11:230615..17099213 [GRCh37]
Chr11:11p15.5-15.1
pathogenic
GRCh37/hg19 11p15.5-15.4(chr11:230615-9704511)x3 copy number gain not provided [RCV000683369] Chr11:230615..9704511 [GRCh37]
Chr11:11p15.5-15.4
pathogenic
NM_001909.5(CTSD):c.977T>C (p.Met326Thr) single nucleotide variant Seizures [RCV000716813] Chr11:1753897 [GRCh38]
Chr11:1775127 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_001909.5(CTSD):c.1036G>C (p.Gly346Arg) single nucleotide variant Seizures [RCV000716673] Chr11:1753838 [GRCh38]
Chr11:1775068 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_001909.5(CTSD):c.1183A>G (p.Thr395Ala) single nucleotide variant Neuronal ceroid lipofuscinosis 10 [RCV000767946]|Neuronal ceroid lipofuscinosis [RCV000703279] Chr11:1753559 [GRCh38]
Chr11:1774789 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_001909.5(CTSD):c.505C>G (p.Leu169Val) single nucleotide variant Seizures [RCV000717869] Chr11:1757523 [GRCh38]
Chr11:1778753 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_001909.5(CTSD):c.1170C>G (p.Ile390Met) single nucleotide variant Seizures [RCV000720764] Chr11:1753572 [GRCh38]
Chr11:1774802 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_001909.5(CTSD):c.431C>G (p.Ser144Trp) single nucleotide variant Seizures [RCV000720253] Chr11:1759009 [GRCh38]
Chr11:1780239 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_001909.5(CTSD):c.633G>C (p.Val211=) single nucleotide variant Seizures [RCV000720758] Chr11:1757395 [GRCh38]
Chr11:1778625 [GRCh37]
Chr11:11p15.5
likely benign
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
NM_001909.5(CTSD):c.447G>A (p.Gly149=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000941234] Chr11:1758993 [GRCh38]
Chr11:1780223 [GRCh37]
Chr11:11p15.5
likely benign
NM_001909.5(CTSD):c.6G>A (p.Gln2=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000983303] Chr11:1763854 [GRCh38]
Chr11:1785084 [GRCh37]
Chr11:11p15.5
likely benign
NM_001909.5(CTSD):c.622G>A (p.Val208Ile) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001059091] Chr11:1757406 [GRCh38]
Chr11:1778636 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_001909.5(CTSD):c.463A>T (p.Thr155Ser) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001059443] Chr11:1758977 [GRCh38]
Chr11:1780207 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_001909.5(CTSD):c.203C>T (p.Pro68Leu) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001035972] Chr11:1761334 [GRCh38]
Chr11:1782564 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_001909.5(CTSD):c.74C>T (p.Pro25Leu) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000807827] Chr11:1761463 [GRCh38]
Chr11:1782693 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_001909.5(CTSD):c.-6G>T single nucleotide variant not provided [RCV000827263] Chr11:1763865 [GRCh38]
Chr11:1785095 [GRCh37]
Chr11:11p15.5
likely benign
NM_001909.5(CTSD):c.99C>G (p.Arg33=) single nucleotide variant not provided [RCV000925391] Chr11:1761438 [GRCh38]
Chr11:1782668 [GRCh37]
Chr11:11p15.5
likely benign
GRCh37/hg19 11p15.5-15.3(chr11:193146-12643136) copy number gain Russell-Silver syndrome [RCV000767567] Chr11:193146..12643136 [GRCh37]
Chr11:11p15.5-15.3
pathogenic
NM_001909.5(CTSD):c.697C>T (p.Leu233=) single nucleotide variant not provided [RCV000868179] Chr11:1757331 [GRCh38]
Chr11:1778561 [GRCh37]
Chr11:11p15.5
likely benign
NM_001909.5(CTSD):c.993G>A (p.Lys331=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000869677] Chr11:1753881 [GRCh38]
Chr11:1775111 [GRCh37]
Chr11:11p15.5
likely benign
NM_001909.5(CTSD):c.142G>A (p.Ala48Thr) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000822425] Chr11:1761395 [GRCh38]
Chr11:1782625 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_001909.5(CTSD):c.978G>A (p.Met326Ile) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000815835] Chr11:1753896 [GRCh38]
Chr11:1775126 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_001909.5(CTSD):c.52G>A (p.Ala18Thr) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000802812] Chr11:1763808 [GRCh38]
Chr11:1785038 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_001909.5(CTSD):c.1062C>T (p.Tyr354=) single nucleotide variant not provided [RCV000976653] Chr11:1753812 [GRCh38]
Chr11:1775042 [GRCh37]
Chr11:11p15.5
likely benign
NM_001909.5(CTSD):c.229-25C>T single nucleotide variant not provided [RCV000833044] Chr11:1759664 [GRCh38]
Chr11:1780894 [GRCh37]
Chr11:11p15.5
likely benign
NM_001909.5(CTSD):c.352+42T>C single nucleotide variant not provided [RCV000833045] Chr11:1759474 [GRCh38]
Chr11:1780704 [GRCh37]
Chr11:11p15.5
likely benign
NM_001909.5(CTSD):c.223A>G (p.Met75Val) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000815166] Chr11:1761314 [GRCh38]
Chr11:1782544 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_001909.5(CTSD):c.1069A>G (p.Lys357Glu) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000805106] Chr11:1753805 [GRCh38]
Chr11:1775035 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_001909.5(CTSD):c.301T>C (p.Ser101Pro) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000814286] Chr11:1759567 [GRCh38]
Chr11:1780797 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_001909.5(CTSD):c.472-27G>T single nucleotide variant not provided [RCV000832809] Chr11:1757583 [GRCh38]
Chr11:1778813 [GRCh37]
Chr11:11p15.5
likely benign
NM_001909.5(CTSD):c.174G>A (p.Ala58=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001088342]|not provided [RCV000830310] Chr11:1761363 [GRCh38]
Chr11:1782593 [GRCh37]
Chr11:11p15.5
likely benign
NM_001909.5(CTSD):c.927C>T (p.Arg309=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000816766] Chr11:1754039 [GRCh38]
Chr11:1775269 [GRCh37]
Chr11:11p15.5
uncertain significance
NC_000011.10:g.1764137C>T single nucleotide variant not provided [RCV000837764] Chr11:1764137 [GRCh38]
Chr11:1785367 [GRCh37]
Chr11:11p15.5
likely benign
NM_001909.5(CTSD):c.828-247_828-221del deletion not provided [RCV000831028] Chr11:1754359..1754385 [GRCh38]
Chr11:1775589..1775615 [GRCh37]
Chr11:11p15.5
likely benign
NM_001909.5(CTSD):c.704+233G>A single nucleotide variant not provided [RCV000838908] Chr11:1757091 [GRCh38]
Chr11:1778321 [GRCh37]
Chr11:11p15.5
benign
NM_001909.5(CTSD):c.472-161G>T single nucleotide variant not provided [RCV000838910] Chr11:1757717 [GRCh38]
Chr11:1778947 [GRCh37]
Chr11:11p15.5
benign
NM_001909.5(CTSD):c.68+6G>A single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000800807] Chr11:1763786 [GRCh38]
Chr11:1785016 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_001909.5(CTSD):c.370A>G (p.Asn124Asp) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000824082] Chr11:1759070 [GRCh38]
Chr11:1780300 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_001909.5(CTSD):c.973-14G>A single nucleotide variant not provided [RCV000827264] Chr11:1753915 [GRCh38]
Chr11:1775145 [GRCh37]
Chr11:11p15.5
likely benign
NM_001909.5(CTSD):c.141T>G (p.Ile47Met) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000795249] Chr11:1761396 [GRCh38]
Chr11:1782626 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_001909.5(CTSD):c.769G>A (p.Gly257Ser) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000812114] Chr11:1754964 [GRCh38]
Chr11:1776194 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_001909.5(CTSD):c.184G>T (p.Val62Leu) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001067786] Chr11:1761353 [GRCh38]
Chr11:1782583 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_001909.5(CTSD):c.69-64C>T single nucleotide variant not provided [RCV000833043] Chr11:1761532 [GRCh38]
Chr11:1782762 [GRCh37]
Chr11:11p15.5
likely benign
NC_000011.10:g.1764171T>C single nucleotide variant not provided [RCV000828470] Chr11:1764171 [GRCh38]
Chr11:1785401 [GRCh37]
Chr11:11p15.5
benign
NM_001909.5(CTSD):c.570C>T (p.Phe190=) single nucleotide variant not provided [RCV000869852] Chr11:1757458 [GRCh38]
Chr11:1778688 [GRCh37]
Chr11:11p15.5
likely benign
NC_000011.10:g.1764217C>T single nucleotide variant not provided [RCV000832208] Chr11:1764217 [GRCh38]
Chr11:1785447 [GRCh37]
Chr11:11p15.5
likely benign
NM_001909.5(CTSD):c.705-74C>T single nucleotide variant not provided [RCV000829889] Chr11:1755102 [GRCh38]
Chr11:1776332 [GRCh37]
Chr11:11p15.5
benign
NM_001909.5(CTSD):c.1072-34T>C single nucleotide variant not provided [RCV000829988] Chr11:1753704 [GRCh38]
Chr11:1774934 [GRCh37]
Chr11:11p15.5
benign
NM_001909.5(CTSD):c.68+251G>C single nucleotide variant not provided [RCV000832763] Chr11:1763541 [GRCh38]
Chr11:1784771 [GRCh37]
Chr11:11p15.5
likely benign
NM_001909.5(CTSD):c.352+48A>G single nucleotide variant not provided [RCV000832782] Chr11:1759468 [GRCh38]
Chr11:1780698 [GRCh37]
Chr11:11p15.5
likely benign
NM_001909.5(CTSD):c.288C>T (p.Phe96=) single nucleotide variant not provided [RCV000870246] Chr11:1759580 [GRCh38]
Chr11:1780810 [GRCh37]
Chr11:11p15.5
likely benign
GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3 copy number gain not provided [RCV001006372] Chr11:235934..33826995 [GRCh37]
Chr11:11p15.5-13
pathogenic
NM_001909.5(CTSD):c.478T>C (p.Cys160Arg) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001226038] Chr11:1757550 [GRCh38]
Chr11:1778780 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_001909.5(CTSD):c.646G>A (p.Asp216Asn) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001242360] Chr11:1757382 [GRCh38]
Chr11:1778612 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_001909.5(CTSD):c.1232G>A (p.Arg411His) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001065084] Chr11:1753510 [GRCh38]
Chr11:1774740 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_001909.5(CTSD):c.1101G>A (p.Leu367=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000892288] Chr11:1753641 [GRCh38]
Chr11:1774871 [GRCh37]
Chr11:11p15.5
likely benign
NM_001909.5(CTSD):c.729T>C (p.Gly243=) single nucleotide variant not provided [RCV000932874] Chr11:1755004 [GRCh38]
Chr11:1776234 [GRCh37]
Chr11:11p15.5
likely benign
NM_001909.5(CTSD):c.237C>T (p.Tyr79=) single nucleotide variant not provided [RCV000924545] Chr11:1759631 [GRCh38]
Chr11:1780861 [GRCh37]
Chr11:11p15.5
likely benign
NM_001909.5(CTSD):c.1158C>T (p.Gly386=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001218426] Chr11:1753584 [GRCh38]
Chr11:1774814 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_001909.5(CTSD):c.*133G>A single nucleotide variant Neuronal ceroid lipofuscinosis 10 [RCV001106530] Chr11:1753370 [GRCh38]
Chr11:1774600 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_001909.5(CTSD):c.285C>T (p.Val95=) single nucleotide variant Neuronal ceroid lipofuscinosis 10 [RCV001106638] Chr11:1759583 [GRCh38]
Chr11:1780813 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_001909.5(CTSD):c.1228G>C (p.Ala410Pro) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001236303] Chr11:1753514 [GRCh38]
Chr11:1774744 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_001909.5(CTSD):c.1222G>A (p.Glu408Lys) single nucleotide variant Neuronal ceroid lipofuscinosis 10 [RCV001108708] Chr11:1753520 [GRCh38]
Chr11:1774750 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_001909.5(CTSD):c.631G>A (p.Val211Met) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001220875] Chr11:1757397 [GRCh38]
Chr11:1778627 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_001909.5(CTSD):c.898C>T (p.Leu300Phe) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001240980] Chr11:1754068 [GRCh38]
Chr11:1775298 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_001909.5(CTSD):c.190G>C (p.Glu64Gln) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001045318] Chr11:1761347 [GRCh38]
Chr11:1782577 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_001909.5(CTSD):c.307C>G (p.Leu103Val) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001243878] Chr11:1759561 [GRCh38]
Chr11:1780791 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_001909.5(CTSD):c.491C>T (p.Ser164Leu) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001227961] Chr11:1757537 [GRCh38]
Chr11:1778767 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_001909.5(CTSD):c.*390G>A single nucleotide variant Neuronal ceroid lipofuscinosis 10 [RCV001105390] Chr11:1753113 [GRCh38]
Chr11:1774343 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_001909.5(CTSD):c.665A>G (p.Lys222Arg) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001071491] Chr11:1757363 [GRCh38]
Chr11:1778593 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_001909.5(CTSD):c.315C>A (p.Val105=) single nucleotide variant Neuronal ceroid lipofuscinosis 10 [RCV001106637] Chr11:1759553 [GRCh38]
Chr11:1780783 [GRCh37]
Chr11:11p15.5
uncertain significance
NC_000011.9:g.(?_532616)_(2906985_?)dup duplication Neuronal ceroid lipofuscinosis [RCV001032557] Chr11:532616..2906985 [GRCh37]
Chr11:11p15.5-15.4
uncertain significance
NM_001909.5(CTSD):c.49C>T (p.Pro17Ser) single nucleotide variant Neuronal ceroid lipofuscinosis 10 [RCV001108796] Chr11:1763811 [GRCh38]
Chr11:1785041 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_001909.5(CTSD):c.*200C>G single nucleotide variant Neuronal ceroid lipofuscinosis 10 [RCV001106529] Chr11:1753303 [GRCh38]
Chr11:1774533 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_001909.5(CTSD):c.*130G>A single nucleotide variant Neuronal ceroid lipofuscinosis 10 [RCV001106531] Chr11:1753373 [GRCh38]
Chr11:1774603 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_001909.5(CTSD):c.614G>A (p.Arg205His) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001069325] Chr11:1757414 [GRCh38]
Chr11:1778644 [GRCh37]
Chr11:11p15.5
uncertain significance
NC_000011.9:g.(?_612625)_(2193840_?)dup duplication Immunodeficiency 39 [RCV001033372] Chr11:612625..2193840 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_001909.5(CTSD):c.716C>T (p.Ala239Val) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001050398] Chr11:1755017 [GRCh38]
Chr11:1776247 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_001909.5(CTSD):c.70A>T (p.Ile24Phe) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001050422] Chr11:1761467 [GRCh38]
Chr11:1782697 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_001909.5(CTSD):c.215A>G (p.Lys72Arg) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001236740] Chr11:1761322 [GRCh38]
Chr11:1782552 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_001909.5(CTSD):c.464_465delinsGC (p.Thr155Ser) indel Neuronal ceroid lipofuscinosis [RCV001060987] Chr11:1758975..1758976 [GRCh38]
Chr11:1780205..1780206 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_001909.5(CTSD):c.827+2T>C single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001057268] Chr11:1754904 [GRCh38]
Chr11:1776134 [GRCh37]
Chr11:11p15.5
likely pathogenic
NM_001909.5(CTSD):c.*651C>T single nucleotide variant Neuronal ceroid lipofuscinosis 10 [RCV001103462] Chr11:1752852 [GRCh38]
Chr11:1774082 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_001909.5(CTSD):c.*555C>A single nucleotide variant Neuronal ceroid lipofuscinosis 10 [RCV001103463] Chr11:1752948 [GRCh38]
Chr11:1774178 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_001909.5(CTSD):c.*509C>T single nucleotide variant Neuronal ceroid lipofuscinosis 10 [RCV001103464] Chr11:1752994 [GRCh38]
Chr11:1774224 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_001909.5(CTSD):c.28G>T (p.Ala10Ser) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001230679] Chr11:1763832 [GRCh38]
Chr11:1785062 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_001909.5(CTSD):c.*210C>G single nucleotide variant Neuronal ceroid lipofuscinosis 10 [RCV001106528] Chr11:1753293 [GRCh38]
Chr11:1774523 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_001909.5(CTSD):c.*98G>A single nucleotide variant Neuronal ceroid lipofuscinosis 10 [RCV001106532] Chr11:1753405 [GRCh38]
Chr11:1774635 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_001909.5(CTSD):c.*494C>T single nucleotide variant Neuronal ceroid lipofuscinosis 10 [RCV001103465] Chr11:1753009 [GRCh38]
Chr11:1774239 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_001909.5(CTSD):c.999C>A (p.Ser333=) single nucleotide variant Neuronal ceroid lipofuscinosis 10 [RCV001103556] Chr11:1753875 [GRCh38]
Chr11:1775105 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_001909.5(CTSD):c.1034A>G (p.Lys345Arg) single nucleotide variant Neuronal ceroid lipofuscinosis 10 [RCV001103555] Chr11:1753840 [GRCh38]
Chr11:1775070 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_001909.5(CTSD):c.829G>A (p.Val277Met) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001042243] Chr11:1754137 [GRCh38]
Chr11:1775367 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_001909.5(CTSD):c.73C>T (p.Pro25Ser) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001052450] Chr11:1761464 [GRCh38]
Chr11:1782694 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_001909.5(CTSD):c.409T>A (p.Ser137Thr) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001215480] Chr11:1759031 [GRCh38]
Chr11:1780261 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_001909.5(CTSD):c.640G>A (p.Val214Ile) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001215510] Chr11:1757388 [GRCh38]
Chr11:1778618 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_001909.5(CTSD):c.*398G>A single nucleotide variant Neuronal ceroid lipofuscinosis 10 [RCV001105389] Chr11:1753105 [GRCh38]
Chr11:1774335 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_001909.5(CTSD):c.*375A>G single nucleotide variant Neuronal ceroid lipofuscinosis 10 [RCV001105391] Chr11:1753128 [GRCh38]
Chr11:1774358 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_001909.5(CTSD):c.*330G>T single nucleotide variant Neuronal ceroid lipofuscinosis 10 [RCV001105392] Chr11:1753173 [GRCh38]
Chr11:1774403 [GRCh37]
Chr11:11p15.5
uncertain significance
GRCh37/hg19 11p15.5(chr11:1436158-2321134)x3 copy number gain not provided [RCV001259591] Chr11:1436158..2321134 [GRCh37]
Chr11:11p15.5
pathogenic
GRCh37/hg19 11p15.5-15.4(chr11:230615-4851537)x3 copy number gain See cases [RCV001263059] Chr11:230615..4851537 [GRCh37]
Chr11:11p15.5-15.4
pathogenic
GRCh37/hg19 11p15.5-15.4(chr11:210300-8664358)x3 copy number gain Russell-Silver syndrome [RCV001263222] Chr11:210300..8664358 [GRCh37]
Chr11:11p15.5-15.4
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:2529 AgrOrtholog
COSMIC CTSD COSMIC
Ensembl Genes ENSG00000117984 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000236671 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000356164 UniProtKB/TrEMBL
  ENSP00000402586 UniProtKB/TrEMBL
  ENSP00000404902 UniProtKB/TrEMBL
  ENSP00000415036 UniProtKB/TrEMBL
  ENSP00000490316 UniProtKB/TrEMBL
  ENSP00000490344 UniProtKB/TrEMBL
  ENSP00000490471 UniProtKB/TrEMBL
  ENSP00000490598 UniProtKB/TrEMBL
  ENSP00000490770 UniProtKB/TrEMBL
  ENSP00000490897 UniProtKB/TrEMBL
Ensembl Transcript ENST00000236671 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000367196 UniProtKB/TrEMBL
  ENST00000429746 UniProtKB/TrEMBL
  ENST00000433655 UniProtKB/TrEMBL
  ENST00000438213 UniProtKB/TrEMBL
  ENST00000636571 UniProtKB/TrEMBL
  ENST00000636843 UniProtKB/TrEMBL
  ENST00000637381 UniProtKB/TrEMBL
  ENST00000637387 UniProtKB/TrEMBL
  ENST00000637815 UniProtKB/TrEMBL
  ENST00000637915 UniProtKB/TrEMBL
Gene3D-CATH 2.40.70.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000117984 GTEx
HGNC ID HGNC:2529 ENTREZGENE
Human Proteome Map CTSD Human Proteome Map
InterPro Aspartic_peptidase_A1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Aspartic_peptidase_AS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Aspartic_peptidase_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cathepsin_D UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PEPTIDASE_A1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_aspartic_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:1509 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 1509 ENTREZGENE
OMIM 116840 OMIM
  610127 OMIM
PANTHER PTHR13683 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam A1_Propeptide UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Asp UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA27029 PharmGKB
PRINTS PEPSIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE ASP_PROTEASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PEPTIDASE_A1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF50630 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0S2Z3L4_HUMAN UniProtKB/TrEMBL
  A0A1B0GV01_HUMAN UniProtKB/TrEMBL
  A0A1B0GV23_HUMAN UniProtKB/TrEMBL
  A0A1B0GVD5_HUMAN UniProtKB/TrEMBL
  A0A1B0GVP3_HUMAN UniProtKB/TrEMBL
  A0A1B0GW44_HUMAN UniProtKB/TrEMBL
  A0A1B0GWE8_HUMAN UniProtKB/TrEMBL
  C9JH19_HUMAN UniProtKB/TrEMBL
  CATD_HUMAN UniProtKB/Swiss-Prot
  F8W787_HUMAN UniProtKB/TrEMBL
  F8WD96_HUMAN UniProtKB/TrEMBL
  H7C1V0_HUMAN UniProtKB/TrEMBL
  P07339 ENTREZGENE
  V9HWI3 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary Q6IB57 UniProtKB/Swiss-Prot