PSEN2 (presenilin 2) - Rat Genome Database

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Gene: PSEN2 (presenilin 2) Homo sapiens
Analyze
Symbol: PSEN2
Name: presenilin 2
RGD ID: 733569
HGNC Page HGNC:9509
Description: Predicted to enable endopeptidase activity. Involved in several processes, including amyloid-beta formation; mitochondrion-endoplasmic reticulum membrane tethering; and proteolysis. Located in several cellular components, including centrosome; kinetochore; and nuclear inner membrane. Is integral component of plasma membrane. Part of gamma-secretase complex. Implicated in Alzheimer's disease; Alzheimer's disease 4; breast cancer; and dilated cardiomyopathy 1V.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: AD3L; AD3LP; AD4; AD5; Alzheimer disease 4; Alzheimer's disease 3-like; CMD1V; E5-1; presenilin-2; PS-2; PS2; STM-2; STM2
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
GRCh381226,870,616 - 226,903,668 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl1226,870,184 - 226,927,726 (+)EnsemblGRCh38hg38GRCh38
GRCh371227,058,317 - 227,083,799 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361225,124,896 - 225,150,427 (+)NCBINCBI36Build 36hg18NCBI36
Build 341223,365,694 - 223,390,532NCBI
Celera1200,249,068 - 200,274,610 (+)NCBICelera
Cytogenetic Map1q42.13NCBI
HuRef1197,575,178 - 197,600,711 (+)NCBIHuRef
CHM1_11228,331,030 - 228,356,564 (+)NCBICHM1_1
T2T-CHM13v2.01226,058,503 - 226,084,010 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
(S)-naringenin  (EXP)
14-Deoxy-11,12-didehydroandrographolide  (EXP)
17beta-estradiol  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,6-dinitrotoluene  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
4-hydroxyphenyl retinamide  (ISO)
acrylamide  (EXP,ISO)
aflatoxin B1  (ISO)
aldehydo-D-glucose  (ISO)
aldrin  (ISO)
aminoguanidine  (EXP)
ammonium chloride  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
benzo[a]pyrene  (EXP,ISO)
bisphenol A  (EXP,ISO)
cadmium dichloride  (ISO)
calcium dichloride  (EXP)
cannabidiol  (EXP)
carbon nanotube  (ISO)
chlorpyrifos  (ISO)
clofibrate  (ISO)
cobalt dichloride  (EXP)
copper(II) sulfate  (ISO)
crocidolite asbestos  (ISO)
cycloheximide  (EXP)
D-glucose  (ISO)
deguelin  (EXP)
dibutyl phthalate  (ISO)
diethyldithiocarbamic acid  (EXP)
dioxygen  (ISO)
doxorubicin  (EXP)
enzalutamide  (EXP)
epoxiconazole  (ISO)
flutamide  (ISO)
fucoxanthin  (ISO)
genistein  (ISO)
gentamycin  (ISO)
glucose  (ISO)
glyphosate  (EXP)
lipopolysaccharide  (EXP,ISO)
N-methyl-4-phenylpyridinium  (ISO)
nimesulide  (EXP)
ozone  (ISO)
paracetamol  (ISO)
parathion  (ISO)
picoxystrobin  (EXP)
pirinixic acid  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
prostaglandin E2  (EXP)
resveratrol  (EXP)
retinyl acetate  (ISO)
sarin  (EXP)
scopolamine  (ISO)
silver atom  (ISO)
silver(0)  (ISO)
sodium arsenate  (EXP)
sodium azide  (EXP)
staurosporine  (EXP)
taurine  (EXP)
temozolomide  (EXP)
tetrachloromethane  (ISO)
triptonide  (ISO)
tunicamycin  (EXP)
valproic acid  (EXP,ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
amyloid precursor protein catabolic process  (IBA,IC,IDA,IEA,TAS)
amyloid-beta formation  (IDA)
amyloid-beta metabolic process  (IBA,ISO)
apoptotic signaling pathway  (ISO)
brain morphogenesis  (ISO)
calcium ion transport  (IBA,ISO)
cardiac muscle contraction  (ISO)
cell fate specification  (ISO)
dorsal/ventral neural tube patterning  (ISO)
embryonic limb morphogenesis  (ISO)
endoplasmic reticulum calcium ion homeostasis  (ISO)
forebrain development  (ISO)
hair follicle development  (ISO)
hematopoietic progenitor cell differentiation  (ISO)
intracellular signal transduction  (IEA)
learning or memory  (ISO)
locomotion  (ISO)
lung alveolus development  (ISO)
membrane protein ectodomain proteolysis  (IBA,IDA)
membrane protein intracellular domain proteolysis  (IC)
memory  (ISO)
mitochondrion-endoplasmic reticulum membrane tethering  (IMP)
myeloid leukocyte differentiation  (ISO)
negative regulation of apoptotic process  (IBA)
negative regulation of apoptotic signaling pathway  (ISO)
negative regulation of epidermal growth factor-activated receptor activity  (ISO)
negative regulation of extrinsic apoptotic signaling pathway via death domain receptors  (ISO)
negative regulation of protein binding  (ISO)
negative regulation of protein phosphorylation  (ISO)
negative regulation of protein-containing complex assembly  (ISO)
negative regulation of transcription by RNA polymerase II  (ISO)
negative regulation of ubiquitin-dependent protein catabolic process  (ISO)
negative regulation of ubiquitin-protein transferase activity  (ISO)
neuroinflammatory response  (ISO)
neuron cellular homeostasis  (ISO)
Notch receptor processing  (IBA,IC,TAS)
Notch signaling pathway  (IEA,ISO)
positive regulation of apoptotic process  (ISO)
positive regulation of catalytic activity  (IDA)
positive regulation of coagulation  (ISO)
positive regulation of extrinsic apoptotic signaling pathway via death domain receptors  (ISO)
positive regulation of proteasomal ubiquitin-dependent protein catabolic process  (ISO)
positive regulation of receptor recycling  (ISO)
protein catabolic process at postsynapse  (ISO)
protein maturation  (ISO)
protein metabolic process  (ISO)
protein processing  (IDA,IEA,ISO)
protein transport  (ISO)
proteolysis  (IEA)
regulation of calcium import into the mitochondrion  (IMP)
regulation of epidermal growth factor-activated receptor activity  (ISO)
regulation of postsynapse organization  (ISO)
regulation of protein binding  (ISO)
regulation of synaptic plasticity  (ISO)
response to hypoxia  (IEA,ISO)
skin morphogenesis  (ISO)
somitogenesis  (ISO)
T cell activation involved in immune response  (ISO)
T cell receptor signaling pathway  (ISO)
thymus development  (ISO)

References

References - curated
# Reference Title Reference Citation
1. The role of presenilin 1 in the genetics of Alzheimer's disease. Clark RF, etal., Cold Spring Harb Symp Quant Biol 1996;61:551-8.
2. Cell and molecular biology of Notch. Fiuza UM and Arias AM, J Endocrinol. 2007 Sep;194(3):459-74.
3. Presenilin 2 deficiency causes a mild pulmonary phenotype and no changes in amyloid precursor protein processing but enhances the embryonic lethal phenotype of presenilin 1 deficiency. Herreman A, etal., Proc Natl Acad Sci U S A 1999 Oct 12;96(21):11872-7.
4. KEGG: Kyoto Encyclopedia of Genes and Genomes KEGG
5. Familial Alzheimer's disease: site of mutation influences clinical phenotype. Lippa CF, etal., Ann Neurol. 2000 Sep;48(3):376-9.
6. Uncommon polymorphism in the presenilin genes in human familial Alzheimer's disease: not to be mistaken with a pathogenic mutation. Lleo A, etal., Neurosci Lett 2002 Feb 1;318(3):166-8.
7. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
8. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
9. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
10. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
11. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
12. Functional characterization of novel presenilin-2 variants identified in human breast cancers. To MD, etal., Oncogene. 2006 Jun 15;25(25):3557-64. Epub 2006 Feb 13.
13. Transcriptomic characteristics of bronchoalveolar lavage fluid and peripheral blood mononuclear cells in COVID-19 patients. Xiong Y, etal., Emerg Microbes Infect. 2020 Dec;9(1):761-770. doi: 10.1080/22221751.2020.1747363.
Additional References at PubMed
PMID:7638621   PMID:7638622   PMID:7651536   PMID:8574969   PMID:8618867   PMID:8661049   PMID:8878479   PMID:8939861   PMID:8940094   PMID:8972483   PMID:9050898   PMID:9073509  
PMID:9219695   PMID:9223340   PMID:9252383   PMID:9298903   PMID:9384602   PMID:9437013   PMID:9450781   PMID:9521418   PMID:9558331   PMID:9632714   PMID:9683324   PMID:9771752  
PMID:9813158   PMID:9852298   PMID:9990034   PMID:10037471   PMID:10069390   PMID:10078972   PMID:10361981   PMID:10366599   PMID:10369872   PMID:10446169   PMID:10497236   PMID:10631141  
PMID:10652302   PMID:10677567   PMID:10732806   PMID:10748169   PMID:10854253   PMID:10922078   PMID:10993067   PMID:11001931   PMID:11076969   PMID:11278424   PMID:11436125   PMID:11518718  
PMID:11568920   PMID:11719200   PMID:11738826   PMID:11799129   PMID:11847232   PMID:11876645   PMID:11891288   PMID:11904448   PMID:11987239   PMID:12048259   PMID:12058025   PMID:12173418  
PMID:12196555   PMID:12198112   PMID:12210343   PMID:12232783   PMID:12297508   PMID:12403846   PMID:12471034   PMID:12477932   PMID:12556443   PMID:12605888   PMID:12639958   PMID:12770698  
PMID:12787561   PMID:12817569   PMID:12843241   PMID:12846562   PMID:12885769   PMID:12925374   PMID:14504279   PMID:14577603   PMID:14741365   PMID:14769392   PMID:15004330   PMID:15006697  
PMID:15274632   PMID:15474363   PMID:15489334   PMID:15534001   PMID:15537629   PMID:15591316   PMID:15629423   PMID:15663477   PMID:15721744   PMID:15755689   PMID:15776278   PMID:15905180  
PMID:15951428   PMID:15975068   PMID:16014629   PMID:16135086   PMID:16233903   PMID:16258850   PMID:16344560   PMID:16375654   PMID:16423463   PMID:16620965   PMID:16630834   PMID:16813565  
PMID:17268504   PMID:17268505   PMID:17345043   PMID:17401156   PMID:17401676   PMID:17412506   PMID:17560791   PMID:17614368   PMID:17727891   PMID:17903177   PMID:17986144   PMID:18087668  
PMID:18283638   PMID:18293935   PMID:18350357   PMID:18427071   PMID:18591429   PMID:18667258   PMID:18727676   PMID:18842294   PMID:18854154   PMID:18996842   PMID:19036728   PMID:19073399  
PMID:19276543   PMID:19382908   PMID:19573580   PMID:19768372   PMID:19834068   PMID:19889971   PMID:19913121   PMID:19946888   PMID:20008660   PMID:20009122   PMID:20164579   PMID:20301340  
PMID:20301414   PMID:20301486   PMID:20333730   PMID:20375137   PMID:20457965   PMID:20468060   PMID:20594621   PMID:20628086   PMID:20677014   PMID:20701429   PMID:20850903   PMID:21163940  
PMID:21234330   PMID:21285369   PMID:21409510   PMID:21545304   PMID:21873635   PMID:21914807   PMID:21959359   PMID:22027014   PMID:22045484   PMID:22074918   PMID:22249458   PMID:22302987  
PMID:22312439   PMID:22503161   PMID:22580083   PMID:22753229   PMID:22755192   PMID:22872014   PMID:23546527   PMID:23589300   PMID:23707529   PMID:23884042   PMID:24145027   PMID:24594196  
PMID:24650794   PMID:24704512   PMID:24838186   PMID:24844686   PMID:24858037   PMID:24885952   PMID:24927704   PMID:25323700   PMID:25429133   PMID:25614624   PMID:25814654   PMID:25998117  
PMID:26159191   PMID:26166204   PMID:26186194   PMID:26203236   PMID:26312828   PMID:26337232   PMID:26422362   PMID:26496610   PMID:26522186   PMID:27059953   PMID:27135718   PMID:27239030  
PMID:27293189   PMID:27608597   PMID:27799753   PMID:28106563   PMID:28502043   PMID:28514442   PMID:28987665   PMID:28994238   PMID:29078389   PMID:29109765   PMID:29997244   PMID:30104866  
PMID:30119059   PMID:30560948   PMID:30822634   PMID:30892128   PMID:31020001   PMID:31167792   PMID:31182772   PMID:31914229   PMID:31991578   PMID:32087291   PMID:32420742   PMID:32556937  
PMID:32814053   PMID:32917274   PMID:32957903   PMID:32992716   PMID:33413468   PMID:33720885   PMID:33769986   PMID:33845483   PMID:33961781   PMID:33973882   PMID:34002480   PMID:34009547  
PMID:34067945   PMID:34102969   PMID:34948396   PMID:34987110   PMID:35491795  


Genomics

Comparative Map Data
PSEN2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381226,870,616 - 226,903,668 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl1226,870,184 - 226,927,726 (+)EnsemblGRCh38hg38GRCh38
GRCh371227,058,317 - 227,083,799 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361225,124,896 - 225,150,427 (+)NCBINCBI36Build 36hg18NCBI36
Build 341223,365,694 - 223,390,532NCBI
Celera1200,249,068 - 200,274,610 (+)NCBICelera
Cytogenetic Map1q42.13NCBI
HuRef1197,575,178 - 197,600,711 (+)NCBIHuRef
CHM1_11228,331,030 - 228,356,564 (+)NCBICHM1_1
T2T-CHM13v2.01226,058,503 - 226,084,010 (+)NCBIT2T-CHM13v2.0
Psen2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391180,054,569 - 180,091,030 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1180,054,569 - 180,091,003 (-)EnsemblGRCm39 Ensembl
GRCm381180,227,004 - 180,263,467 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1180,227,004 - 180,263,438 (-)EnsemblGRCm38mm10GRCm38
MGSCv371182,157,135 - 182,186,431 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361182,063,681 - 182,082,576 (-)NCBIMGSCv36mm8
Celera1187,291,668 - 187,320,266 (-)NCBICelera
Cytogenetic Map1H4NCBI
cM Map184.19NCBI
Psen2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21391,967,506 - 91,993,240 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1391,967,983 - 91,993,174 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1394,473,112 - 94,489,800 (-)NCBIRnor_SHR
UTH_Rnor_SHRSP_BbbUtx_1.01395,873,282 - 95,889,973 (-)NCBIRnor_SHRSP
UTH_Rnor_WKY_Bbb_1.01393,047,983 - 93,064,680 (-)NCBIRnor_WKY
Rnor_6.01398,513,600 - 98,539,347 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1398,513,570 - 98,530,724 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.013103,521,460 - 103,547,174 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41395,934,674 - 95,951,836 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11396,123,177 - 96,145,989 (-)NCBI
Celera1391,515,731 - 91,532,398 (-)NCBICelera
Cytogenetic Map13q26NCBI
Psen2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554065,727,367 - 5,752,234 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554065,727,367 - 5,748,798 (+)NCBIChiLan1.0ChiLan1.0
PSEN2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11207,320,937 - 207,346,295 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1207,320,937 - 207,346,295 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01202,328,987 - 202,354,440 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PSEN2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1738,147,157 - 38,163,023 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl738,147,173 - 38,166,722 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha737,629,753 - 37,654,335 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0737,981,322 - 38,006,377 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl737,980,700 - 38,006,369 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1737,820,678 - 37,845,261 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0737,827,826 - 37,852,402 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0738,098,241 - 38,122,853 (-)NCBIUU_Cfam_GSD_1.0
Psen2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934451,135,578 - 51,163,137 (-)NCBIHiC_Itri_2
SpeTri2.0NW_0049365263,584,194 - 3,611,719 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PSEN2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1014,532,767 - 14,577,251 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11014,532,556 - 14,561,862 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21016,862,708 - 16,891,775 (+)NCBISscrofa10.2Sscrofa10.2susScr3
Pig Cytomap10p16-p11NCBI
PSEN2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1252,862,354 - 2,888,735 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl252,862,251 - 2,877,386 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660552,849,316 - 2,875,698 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Psen2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462477117,183,447 - 17,224,188 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462477117,183,538 - 17,205,460 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Position Markers
D1S479  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371226,209,667 - 226,209,803UniSTSGRCh37
GRCh371226,209,679 - 226,209,788UniSTSGRCh37
Build 361224,276,302 - 224,276,411RGDNCBI36
Celera1199,400,770 - 199,400,873RGD
Celera1199,400,758 - 199,400,888UniSTS
Cytogenetic Map1q31-q42UniSTS
HuRef1196,727,476 - 196,727,581UniSTS
HuRef1196,727,464 - 196,727,596UniSTS
Marshfield Genetic Map1242.34RGD
Marshfield Genetic Map1242.34UniSTS
Genethon Genetic Map1246.2UniSTS
TNG Radiation Hybrid Map1112894.0UniSTS
Stanford-G3 RH Map18946.0UniSTS
GeneMap99-GB4 RH Map1716.71UniSTS
Whitehead-YAC Contig Map1 UniSTS
NCBI RH Map12064.3UniSTS
GeneMap99-G3 RH Map18902.0UniSTS
RH80332  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371227,083,635 - 227,083,765UniSTSGRCh37
Build 361225,150,258 - 225,150,388RGDNCBI36
Celera1200,274,441 - 200,274,571RGD
Cytogenetic Map1q31-q42UniSTS
HuRef1197,600,542 - 197,600,672UniSTS
GeneMap99-GB4 RH Map1718.45UniSTS
PSEN2_2369  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371227,083,151 - 227,083,811UniSTSGRCh37
Build 361225,149,774 - 225,150,434RGDNCBI36
Celera1200,273,957 - 200,274,617RGD
SHGC-35541  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371227,083,308 - 227,083,512UniSTSGRCh37
Build 361225,149,931 - 225,150,135RGDNCBI36
Celera1200,274,114 - 200,274,318RGD
Cytogenetic Map1q31-q42UniSTS
HuRef1197,600,215 - 197,600,419UniSTS
Stanford-G3 RH Map18961.0UniSTS
NCBI RH Map12058.8UniSTS
GeneMap99-G3 RH Map18917.0UniSTS
D1S3685E  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map1q31-q42UniSTS
D1S3686E  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map1q31-q42UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3435
Count of miRNA genes:927
Interacting mature miRNAs:1143
Transcripts:ENST00000340188, ENST00000366782, ENST00000366783, ENST00000391872, ENST00000422240, ENST00000460775, ENST00000471728, ENST00000472139, ENST00000487450, ENST00000495488, ENST00000496965, ENST00000521431, ENST00000524196
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 1875 1046 1274 250 633 123 2628 1464 1661 296 1347 1440 141 836 1731 1
Low 563 1897 449 374 1230 342 1728 732 2073 123 113 173 34 1 368 1057 4 2
Below cutoff 48 3 72 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_007381 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000447 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_012486 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005273199 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017001835 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017001836 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047425596 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047425597 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047425601 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001737316 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001737317 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001737318 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001737319 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001737320 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001737321 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007061979 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007061980 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_949149 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_949150 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF416718 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI091221 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK292299 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301143 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL359732 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL391628 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC006365 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT006984 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471098 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA198818 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA915823 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JB312310 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT120068 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L43964 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L44577 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U34349 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U50871 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000366782   ⟹   ENSP00000355746
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1226,871,268 - 226,896,098 (+)Ensembl
RefSeq Acc Id: ENST00000366783   ⟹   ENSP00000355747
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1226,870,616 - 226,896,098 (+)Ensembl
RefSeq Acc Id: ENST00000422240   ⟹   ENSP00000403737
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1226,870,620 - 226,895,803 (+)Ensembl
RefSeq Acc Id: ENST00000460775   ⟹   ENSP00000427912
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1226,871,264 - 226,891,344 (+)Ensembl
RefSeq Acc Id: ENST00000471728
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1226,889,751 - 226,896,086 (+)Ensembl
RefSeq Acc Id: ENST00000472139   ⟹   ENSP00000427806
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1226,884,623 - 226,895,691 (+)Ensembl
RefSeq Acc Id: ENST00000485677
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1226,896,888 - 226,903,799 (+)Ensembl
RefSeq Acc Id: ENST00000487450
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1226,890,566 - 226,891,820 (+)Ensembl
RefSeq Acc Id: ENST00000495488   ⟹   ENSP00000429682
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1226,870,616 - 226,885,568 (+)Ensembl
RefSeq Acc Id: ENST00000521431
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1226,870,863 - 226,875,552 (+)Ensembl
RefSeq Acc Id: ENST00000524196   ⟹   ENSP00000429036
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1226,870,184 - 226,896,677 (+)Ensembl
RefSeq Acc Id: ENST00000626989   ⟹   ENSP00000486498
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1226,880,655 - 226,896,088 (+)Ensembl
RefSeq Acc Id: ENST00000676467   ⟹   ENSP00000504294
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1226,870,767 - 226,896,086 (+)Ensembl
RefSeq Acc Id: ENST00000676616
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1226,899,365 - 226,927,726 (+)Ensembl
RefSeq Acc Id: ENST00000676747   ⟹   ENSP00000503244
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1226,870,604 - 226,917,589 (+)Ensembl
RefSeq Acc Id: ENST00000676840   ⟹   ENSP00000504318
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1226,870,572 - 226,891,260 (+)Ensembl
RefSeq Acc Id: ENST00000676888   ⟹   ENSP00000504483
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1226,870,450 - 226,896,086 (+)Ensembl
RefSeq Acc Id: ENST00000676907   ⟹   ENSP00000504410
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1226,870,561 - 226,896,086 (+)Ensembl
RefSeq Acc Id: ENST00000676945   ⟹   ENSP00000504433
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1226,870,561 - 226,918,055 (+)Ensembl
RefSeq Acc Id: ENST00000677065
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1226,883,003 - 226,896,086 (+)Ensembl
RefSeq Acc Id: ENST00000677414   ⟹   ENSP00000503116
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1226,870,568 - 226,896,088 (+)Ensembl
RefSeq Acc Id: ENST00000677529
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1226,870,561 - 226,896,086 (+)Ensembl
RefSeq Acc Id: ENST00000677596   ⟹   ENSP00000503618
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1226,870,627 - 226,896,086 (+)Ensembl
RefSeq Acc Id: ENST00000677599   ⟹   ENSP00000503673
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1226,870,561 - 226,922,155 (+)Ensembl
RefSeq Acc Id: ENST00000677748
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1226,870,561 - 226,896,086 (+)Ensembl
RefSeq Acc Id: ENST00000677880   ⟹   ENSP00000503121
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1226,870,616 - 226,896,086 (+)Ensembl
RefSeq Acc Id: ENST00000678021   ⟹   ENSP00000504674
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1226,870,612 - 226,896,086 (+)Ensembl
RefSeq Acc Id: ENST00000678233   ⟹   ENSP00000504728
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1226,870,561 - 226,919,354 (+)Ensembl
RefSeq Acc Id: ENST00000678320   ⟹   ENSP00000503680
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1226,870,561 - 226,896,086 (+)Ensembl
RefSeq Acc Id: ENST00000678655   ⟹   ENSP00000504230
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1226,870,561 - 226,903,644 (+)Ensembl
RefSeq Acc Id: ENST00000678706   ⟹   ENSP00000503659
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1226,870,561 - 226,896,086 (+)Ensembl
RefSeq Acc Id: ENST00000678776   ⟹   ENSP00000504624
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1226,871,054 - 226,896,086 (+)Ensembl
RefSeq Acc Id: ENST00000678784   ⟹   ENSP00000504652
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1226,870,572 - 226,898,446 (+)Ensembl
RefSeq Acc Id: ENST00000678820   ⟹   ENSP00000504138
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1226,870,561 - 226,919,041 (+)Ensembl
RefSeq Acc Id: ENST00000678835   ⟹   ENSP00000504343
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1226,870,517 - 226,903,632 (+)Ensembl
RefSeq Acc Id: ENST00000679088   ⟹   ENSP00000504727
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1226,870,600 - 226,896,088 (+)Ensembl
RefSeq Acc Id: ENST00000679098   ⟹   ENSP00000504303
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1226,870,561 - 226,903,644 (+)Ensembl
RefSeq Acc Id: NM_000447   ⟹   NP_000438
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381226,870,616 - 226,896,098 (+)NCBI
GRCh371227,057,885 - 227,083,804 (+)NCBI
Build 361225,124,896 - 225,150,427 (+)NCBI Archive
HuRef1197,575,178 - 197,600,711 (+)ENTREZGENE
CHM1_11228,331,030 - 228,356,564 (+)NCBI
T2T-CHM13v2.01226,058,503 - 226,084,010 (+)NCBI
Sequence:
RefSeq Acc Id: NM_012486   ⟹   NP_036618
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381226,870,616 - 226,896,098 (+)NCBI
GRCh371227,057,885 - 227,083,804 (+)NCBI
Build 361225,124,896 - 225,150,427 (+)NCBI Archive
HuRef1197,575,178 - 197,600,711 (+)ENTREZGENE
CHM1_11228,331,030 - 228,356,564 (+)NCBI
T2T-CHM13v2.01226,058,503 - 226,084,010 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005273199   ⟹   XP_005273256
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381226,870,616 - 226,896,098 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017001835   ⟹   XP_016857324
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381226,870,616 - 226,896,098 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017001836   ⟹   XP_016857325
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381226,870,616 - 226,896,098 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047425596   ⟹   XP_047281552
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381226,870,616 - 226,896,098 (+)NCBI
RefSeq Acc Id: XM_047425597   ⟹   XP_047281553
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381226,870,616 - 226,896,098 (+)NCBI
RefSeq Acc Id: XM_047425601   ⟹   XP_047281557
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381226,870,616 - 226,896,098 (+)NCBI
RefSeq Acc Id: XR_001737316
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381226,870,616 - 226,903,668 (+)NCBI
Sequence:
RefSeq Acc Id: XR_007061979
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381226,870,616 - 226,903,668 (+)NCBI
RefSeq Acc Id: XR_007061980
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381226,870,616 - 226,903,668 (+)NCBI
RefSeq Acc Id: XR_949150
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381226,870,616 - 226,891,260 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_000438   ⟸   NM_000447
- Peptide Label: isoform 1
- UniProtKB: Q96P32 (UniProtKB/Swiss-Prot),   P49810 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_036618   ⟸   NM_012486
- Peptide Label: isoform 2
- UniProtKB: P49810 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005273256   ⟸   XM_005273199
- Peptide Label: isoform X1
- UniProtKB: Q96P32 (UniProtKB/Swiss-Prot),   P49810 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016857325   ⟸   XM_017001836
- Peptide Label: isoform X2
- UniProtKB: P49810 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016857324   ⟸   XM_017001835
- Peptide Label: isoform X1
- UniProtKB: Q96P32 (UniProtKB/Swiss-Prot),   P49810 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000486498   ⟸   ENST00000626989
RefSeq Acc Id: ENSP00000429682   ⟸   ENST00000495488
RefSeq Acc Id: ENSP00000355746   ⟸   ENST00000366782
RefSeq Acc Id: ENSP00000355747   ⟸   ENST00000366783
RefSeq Acc Id: ENSP00000429036   ⟸   ENST00000524196
RefSeq Acc Id: ENSP00000427806   ⟸   ENST00000472139
RefSeq Acc Id: ENSP00000427912   ⟸   ENST00000460775
RefSeq Acc Id: ENSP00000403737   ⟸   ENST00000422240
RefSeq Acc Id: ENSP00000504433   ⟸   ENST00000676945
RefSeq Acc Id: ENSP00000504410   ⟸   ENST00000676907
RefSeq Acc Id: ENSP00000504483   ⟸   ENST00000676888
RefSeq Acc Id: ENSP00000504318   ⟸   ENST00000676840
RefSeq Acc Id: ENSP00000503244   ⟸   ENST00000676747
RefSeq Acc Id: ENSP00000504294   ⟸   ENST00000676467
RefSeq Acc Id: ENSP00000503618   ⟸   ENST00000677596
RefSeq Acc Id: ENSP00000503673   ⟸   ENST00000677599
RefSeq Acc Id: ENSP00000503116   ⟸   ENST00000677414
RefSeq Acc Id: ENSP00000503121   ⟸   ENST00000677880
RefSeq Acc Id: ENSP00000504674   ⟸   ENST00000678021
RefSeq Acc Id: ENSP00000503680   ⟸   ENST00000678320
RefSeq Acc Id: ENSP00000504728   ⟸   ENST00000678233
RefSeq Acc Id: ENSP00000504138   ⟸   ENST00000678820
RefSeq Acc Id: ENSP00000504343   ⟸   ENST00000678835
RefSeq Acc Id: ENSP00000503659   ⟸   ENST00000678706
RefSeq Acc Id: ENSP00000504652   ⟸   ENST00000678784
RefSeq Acc Id: ENSP00000504624   ⟸   ENST00000678776
RefSeq Acc Id: ENSP00000504230   ⟸   ENST00000678655
RefSeq Acc Id: ENSP00000504727   ⟸   ENST00000679088
RefSeq Acc Id: ENSP00000504303   ⟸   ENST00000679098
RefSeq Acc Id: XP_047281557   ⟸   XM_047425601
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047281552   ⟸   XM_047425596
- Peptide Label: isoform X1
- UniProtKB: Q96P32 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047281553   ⟸   XM_047425597
- Peptide Label: isoform X2

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P49810-F1-model_v2 AlphaFold P49810 1-448 view protein structure

Promoters
RGD ID:6785285
Promoter ID:HG_KWN:7627
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:ENST00000340188,   NM_012486,   OTTHUMT00000091539,   OTTHUMT00000091542
Position:
Human AssemblyChrPosition (strand)Source
Build 361225,124,694 - 225,125,194 (+)MPROMDB
RGD ID:6785286
Promoter ID:HG_KWN:7628
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000366782,   OTTHUMT00000091543
Position:
Human AssemblyChrPosition (strand)Source
Build 361225,124,791 - 225,125,291 (+)MPROMDB
RGD ID:6814452
Promoter ID:HG_XEF:752
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:NM_001131771
Position:
Human AssemblyChrPosition (strand)Source
Build 361225,130,186 - 225,130,686 (+)MPROMDB
RGD ID:6859152
Promoter ID:EPDNEW_H2740
Type:initiation region
Name:PSEN2_1
Description:presenilin 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381226,871,207 - 226,871,267EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000447.3(PSEN2):c.262G>A (p.Val88Met) single nucleotide variant not specified [RCV000516358] Chr1:226883825 [GRCh38]
Chr1:227071526 [GRCh37]
Chr1:1q42.13
uncertain significance
NM_000447.3(PSEN2):c.415G>A (p.Val139Met) single nucleotide variant Alzheimer disease 4 [RCV001101216]|Dilated cardiomyopathy 1V [RCV001099214]|not provided [RCV000517898] Chr1:226885596 [GRCh38]
Chr1:227073297 [GRCh37]
Chr1:1q42.13
benign|likely benign|conflicting interpretations of pathogenicity
NM_000447.3(PSEN2):c.66G>A (p.Ser22=) single nucleotide variant Alzheimer disease 4 [RCV002060255]|not specified [RCV000516293] Chr1:226881973 [GRCh38]
Chr1:227069674 [GRCh37]
Chr1:1q42.13
likely benign
NM_000447.3(PSEN2):c.886+2_886+4del deletion Alzheimer disease 4 [RCV000552294] Chr1:226890135..226890137 [GRCh38]
Chr1:227077836..227077838 [GRCh37]
Chr1:1q42.13
likely pathogenic|uncertain significance
NM_000447.3(PSEN2):c.422A>T (p.Asn141Ile) single nucleotide variant Alzheimer disease 4 [RCV000009393]|not provided [RCV000084262] Chr1:226885603 [GRCh38]
Chr1:227073304 [GRCh37]
Chr1:1q42.13
pathogenic|not provided
NM_000447.3(PSEN2):c.715A>G (p.Met239Val) single nucleotide variant Alzheimer disease 4 [RCV000009394]|not provided [RCV000084265] Chr1:226888977 [GRCh38]
Chr1:227076678 [GRCh37]
Chr1:1q42.13
pathogenic|not provided
NM_000447.3(PSEN2):c.1316A>C (p.Asp439Ala) single nucleotide variant Alzheimer disease 4 [RCV000009395]|Alzheimer disease [RCV000172102]|not provided [RCV000084269] Chr1:226895548 [GRCh38]
Chr1:227083249 [GRCh37]
Chr1:1q42.13
pathogenic|uncertain significance|not provided
NM_000447.3(PSEN2):c.1289C>T (p.Thr430Met) single nucleotide variant Alzheimer disease 4 [RCV000009396]|not provided [RCV000084268] Chr1:226895521 [GRCh38]
Chr1:227083222 [GRCh37]
Chr1:1q42.13
pathogenic|uncertain significance|not provided
NM_000447.3(PSEN2):c.364A>C (p.Thr122Pro) single nucleotide variant Alzheimer disease 4 [RCV000009397]|not provided [RCV000084260] Chr1:226885545 [GRCh38]
Chr1:227073246 [GRCh37]
Chr1:1q42.13
pathogenic|likely pathogenic|not provided
NM_000447.3(PSEN2):c.717G>A (p.Met239Ile) single nucleotide variant Alzheimer disease 4 [RCV000009398]|not provided [RCV000084266] Chr1:226888979 [GRCh38]
Chr1:227076680 [GRCh37]
Chr1:1q42.13
pathogenic|not provided
NM_000447.3(PSEN2):c.365C>G (p.Thr122Arg) single nucleotide variant Alzheimer disease 4 [RCV000009399]|not provided [RCV000084579] Chr1:226885546 [GRCh38]
Chr1:227073247 [GRCh37]
Chr1:1q42.13
pathogenic|not provided
NM_000447.3(PSEN2):c.389C>T (p.Ser130Leu) single nucleotide variant Alzheimer disease 4 [RCV000009401]|Alzheimer disease [RCV000172588]|Dilated cardiomyopathy 1V [RCV000009400]|not provided [RCV000084261]|not specified [RCV001642203] Chr1:226885570 [GRCh38]
Chr1:227073271 [GRCh37]
Chr1:1q42.13
pathogenic|benign|likely benign|uncertain significance|not provided
NM_000447.3(PSEN2):c.254C>T (p.Ala85Val) single nucleotide variant Alzheimer disease 4 [RCV000009402]|not provided [RCV000084259] Chr1:226883817 [GRCh38]
Chr1:227071518 [GRCh37]
Chr1:1q42.13
pathogenic|not provided
GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3 copy number gain See cases [RCV000050981] Chr1:214023812..248918469 [GRCh38]
Chr1:214197155..249212668 [GRCh37]
Chr1:212263778..247179291 [NCBI36]
Chr1:1q32.3-44
pathogenic
GRCh38/hg38 1q41-44(chr1:223347693-248918469)x3 copy number gain See cases [RCV000050581] Chr1:223347693..248918469 [GRCh38]
Chr1:223521035..249212668 [GRCh37]
Chr1:221587658..247179291 [NCBI36]
Chr1:1q41-44
pathogenic
GRCh38/hg38 1q41-44(chr1:221902539-248918469)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051875]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051875]|See cases [RCV000051875] Chr1:221902539..248918469 [GRCh38]
Chr1:222075881..249212668 [GRCh37]
Chr1:220142504..247179291 [NCBI36]
Chr1:1q41-44
pathogenic
GRCh38/hg38 1q41-44(chr1:223828500-248891309)x3 copy number gain See cases [RCV000051878] Chr1:223828500..248891309 [GRCh38]
Chr1:224016202..249185508 [GRCh37]
Chr1:222082825..247152131 [NCBI36]
Chr1:1q41-44
pathogenic
GRCh38/hg38 1q41-44(chr1:223887780-248891309)x3 copy number gain See cases [RCV000051880] Chr1:223887780..248891309 [GRCh38]
Chr1:224075482..249185508 [GRCh37]
Chr1:222142105..247152131 [NCBI36]
Chr1:1q41-44
pathogenic
GRCh38/hg38 1q42.11-44(chr1:224096488-248918469)x3 copy number gain See cases [RCV000051882] Chr1:224096488..248918469 [GRCh38]
Chr1:224284190..249212668 [GRCh37]
Chr1:222350813..247179291 [NCBI36]
Chr1:1q42.11-44
pathogenic
GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3 copy number gain See cases [RCV000051861] Chr1:209646207..248931113 [GRCh38]
Chr1:209819552..249225312 [GRCh37]
Chr1:207886175..247191935 [NCBI36]
Chr1:1q32.2-44
pathogenic
GRCh38/hg38 1q42.11-42.13(chr1:224096288-227859548)x1 copy number loss See cases [RCV000052311] Chr1:224096288..227859548 [GRCh38]
Chr1:224283990..228047249 [GRCh37]
Chr1:222350613..226113872 [NCBI36]
Chr1:1q42.11-42.13
pathogenic
GRCh38/hg38 1q41-42.13(chr1:221519280-228862141)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053955]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053955]|See cases [RCV000053955] Chr1:221519280..228862141 [GRCh38]
Chr1:221692622..228997888 [GRCh37]
Chr1:219759245..227064511 [NCBI36]
Chr1:1q41-42.13
pathogenic
NM_000447.3(PSEN2):c.185G>A (p.Arg62His) single nucleotide variant Alzheimer disease 4 [RCV000641029]|Alzheimer disease [RCV000172777]|Dilated cardiomyopathy 1V [RCV000283560]|not provided [RCV000084258]|not specified [RCV001664396] Chr1:226883748 [GRCh38]
Chr1:227071449 [GRCh37]
Chr1:1q42.13
benign|likely benign|not provided
NM_000447.3(PSEN2):c.442G>A (p.Val148Ile) single nucleotide variant not provided [RCV000084263] Chr1:226885623 [GRCh38]
Chr1:227073324 [GRCh37]
Chr1:1q42.13
not provided
NM_000447.3(PSEN2):c.683A>T (p.Gln228Leu) single nucleotide variant not provided [RCV000084264] Chr1:226888945 [GRCh38]
Chr1:227076646 [GRCh37]
Chr1:1q42.13
not provided
NM_000447.3(PSEN2):c.1001C>G (p.Pro334Arg) single nucleotide variant not provided [RCV000084267] Chr1:226891773 [GRCh38]
Chr1:227079474 [GRCh37]
Chr1:1q42.13
uncertain significance|not provided
NM_000447.3(PSEN2):c.211C>T (p.Arg71Trp) single nucleotide variant Alzheimer disease 4 [RCV000986559]|Dilated cardiomyopathy 1V [RCV001099114]|not provided [RCV000861064]|not specified [RCV000172587] Chr1:226883774 [GRCh38]
Chr1:227071475 [GRCh37]
Chr1:1q42.13
benign|likely benign
NM_000447.3(PSEN2):c.25A>G (p.Ser9Gly) single nucleotide variant not provided [RCV000172096] Chr1:226881932 [GRCh38]
Chr1:227069633 [GRCh37]
Chr1:1q42.13
uncertain significance
NM_000447.3(PSEN2):c.49C>T (p.Arg17Trp) single nucleotide variant not provided [RCV000172097] Chr1:226881956 [GRCh38]
Chr1:227069657 [GRCh37]
Chr1:1q42.13
uncertain significance
NM_000447.3(PSEN2):c.166G>A (p.Gly56Ser) single nucleotide variant Alzheimer disease 4 [RCV002054033]|not provided [RCV000172098] Chr1:226883729 [GRCh38]
Chr1:227071430 [GRCh37]
Chr1:1q42.13
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000447.3(PSEN2):c.205C>G (p.Pro69Ala) single nucleotide variant Alzheimer disease 4 [RCV000763832]|not provided [RCV000172099] Chr1:226883768 [GRCh38]
Chr1:227071469 [GRCh37]
Chr1:1q42.13
uncertain significance
NM_000447.3(PSEN2):c.710C>T (p.Ala237Val) single nucleotide variant not provided [RCV000172100] Chr1:226888972 [GRCh38]
Chr1:227076673 [GRCh37]
Chr1:1q42.13
uncertain significance
NM_000447.3(PSEN2):c.1139C>A (p.Thr380Lys) single nucleotide variant Alzheimer disease 4 [RCV001450646]|not provided [RCV000172101] Chr1:226894073 [GRCh38]
Chr1:227081774 [GRCh37]
Chr1:1q42.13
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000447.3(PSEN2):c.208G>A (p.Gly70Arg) single nucleotide variant Alzheimer disease 4 [RCV001852098]|not provided [RCV000172586] Chr1:226883771 [GRCh38]
Chr1:227071472 [GRCh37]
Chr1:1q42.13
likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3 copy number gain See cases [RCV000134979] Chr1:209963625..248918469 [GRCh38]
Chr1:210136970..249212668 [GRCh37]
Chr1:208203593..247179291 [NCBI36]
Chr1:1q32.2-44
pathogenic
GRCh38/hg38 1q41-44(chr1:223815147-248918469)x3 copy number gain See cases [RCV000135839] Chr1:223815147..248918469 [GRCh38]
Chr1:224002849..249212668 [GRCh37]
Chr1:222069472..247179291 [NCBI36]
Chr1:1q41-44
pathogenic
GRCh38/hg38 1q42.12-42.2(chr1:226185124-232872488)x1 copy number loss See cases [RCV000135796] Chr1:226185124..232872488 [GRCh38]
Chr1:226372825..233008234 [GRCh37]
Chr1:224439448..231074857 [NCBI36]
Chr1:1q42.12-42.2
pathogenic
GRCh38/hg38 1q41-42.13(chr1:223347693-228556332)x1 copy number loss See cases [RCV000136636] Chr1:223347693..228556332 [GRCh38]
Chr1:223521035..228744033 [GRCh37]
Chr1:221587658..226810656 [NCBI36]
Chr1:1q41-42.13
pathogenic
GRCh38/hg38 1q42.11-44(chr1:224022862-248918469)x3 copy number gain See cases [RCV000137769] Chr1:224022862..248918469 [GRCh38]
Chr1:224210564..249212668 [GRCh37]
Chr1:222277187..247179291 [NCBI36]
Chr1:1q42.11-44
pathogenic
GRCh38/hg38 1q42.12-44(chr1:225438480-248787200)x3 copy number gain See cases [RCV000142448] Chr1:225438480..248787200 [GRCh38]
Chr1:225626182..249060210 [GRCh37]
Chr1:223692805..247048022 [NCBI36]
Chr1:1q42.12-44
pathogenic
GRCh38/hg38 1q42.12-42.13(chr1:225382172-230418801)x1 copy number loss See cases [RCV000143223] Chr1:225382172..230418801 [GRCh38]
Chr1:225569874..230554547 [GRCh37]
Chr1:223636497..228621170 [NCBI36]
Chr1:1q42.12-42.13
pathogenic
GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3 copy number gain See cases [RCV000143727] Chr1:207346642..248930485 [GRCh38]
Chr1:207519987..249224684 [GRCh37]
Chr1:205586610..247191307 [NCBI36]
Chr1:1q32.2-44
pathogenic
NM_000447.3(PSEN2):c.149A>G (p.Gln50Arg) single nucleotide variant Alzheimer disease 4 [RCV001097369]|Dilated cardiomyopathy 1V [RCV001097368]|Primary dilated cardiomyopathy [RCV000157425] Chr1:226883712 [GRCh38]
Chr1:227071413 [GRCh37]
Chr1:1q42.13
benign|likely benign|uncertain significance
GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3 copy number gain See cases [RCV000240137] Chr1:197811907..228997888 [GRCh37]
Chr1:1q31.3-42.13
pathogenic
NM_000447.3(PSEN2):c.1077C>T (p.Gly359=) single nucleotide variant Alzheimer disease 4 [RCV000353823]|Dilated cardiomyopathy 1V [RCV000298921] Chr1:226894011 [GRCh38]
Chr1:227081712 [GRCh37]
Chr1:1q42.13
uncertain significance
NM_000447.3(PSEN2):c.410A>G (p.Asn137Ser) single nucleotide variant Alzheimer disease 4 [RCV000300423]|Dilated cardiomyopathy 1V [RCV000273377] Chr1:226885591 [GRCh38]
Chr1:227073292 [GRCh37]
Chr1:1q42.13
uncertain significance
NM_000447.3(PSEN2):c.38T>C (p.Val13Ala) single nucleotide variant Alzheimer disease 4 [RCV000317441]|Dilated cardiomyopathy 1V [RCV000262295] Chr1:226881945 [GRCh38]
Chr1:227069646 [GRCh37]
Chr1:1q42.13
uncertain significance
NM_000447.3(PSEN2):c.222C>G (p.Gly74=) single nucleotide variant Alzheimer disease 4 [RCV000402530]|Dilated cardiomyopathy 1V [RCV000307757] Chr1:226883785 [GRCh38]
Chr1:227071486 [GRCh37]
Chr1:1q42.13
uncertain significance
NM_000447.3(PSEN2):c.937G>A (p.Gly313Ser) single nucleotide variant Alzheimer disease 4 [RCV000311630]|Dilated cardiomyopathy 1V [RCV000404043] Chr1:226891328 [GRCh38]
Chr1:227079029 [GRCh37]
Chr1:1q42.13
uncertain significance
NM_000447.3(PSEN2):c.336C>T (p.Tyr112=) single nucleotide variant Alzheimer disease 4 [RCV001088109]|Dilated cardiomyopathy 1V [RCV000368015]|not provided [RCV000585156]|not specified [RCV001660572] Chr1:226883899 [GRCh38]
Chr1:227071600 [GRCh37]
Chr1:1q42.13
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000447.3(PSEN2):c.954C>T (p.Pro318=) single nucleotide variant Alzheimer disease 4 [RCV000403224]|Dilated cardiomyopathy 1V [RCV000338629]|not provided [RCV000860935]|not specified [RCV000516572] Chr1:226891345 [GRCh38]
Chr1:227079046 [GRCh37]
Chr1:1q42.13
benign|likely benign|uncertain significance
NM_000447.3(PSEN2):c.861C>T (p.Pro287=) single nucleotide variant Alzheimer disease 4 [RCV000381340]|Dilated cardiomyopathy 1V [RCV000345435]|not provided [RCV001579664]|not specified [RCV001289157] Chr1:226890108 [GRCh38]
Chr1:227077809 [GRCh37]
Chr1:1q42.13
benign|likely benign
NM_000447.3(PSEN2):c.690C>G (p.Ala230=) single nucleotide variant Alzheimer disease 4 [RCV001089256]|Dilated cardiomyopathy 1V [RCV000316147]|not provided [RCV000876185] Chr1:226888952 [GRCh38]
Chr1:227076653 [GRCh37]
Chr1:1q42.13
likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 1q42.12-42.13(chr1:226871745-229906954)x1 copy number loss See cases [RCV000240001] Chr1:226871745..229906954 [GRCh37]
Chr1:1q42.12-42.13
uncertain significance
NM_000447.3(PSEN2):c.69T>C (p.Ala23=) single nucleotide variant Alzheimer disease 4 [RCV000372045]|Dilated cardiomyopathy 1V [RCV000286903]|not provided [RCV001682977]|not specified [RCV000248412] Chr1:226881976 [GRCh38]
Chr1:227069677 [GRCh37]
Chr1:1q42.13
benign|likely benign
NM_000447.3(PSEN2):c.*377C>T single nucleotide variant Alzheimer disease 4 [RCV000406189]|Dilated cardiomyopathy 1V [RCV000278741] Chr1:226895956 [GRCh38]
Chr1:227083657 [GRCh37]
Chr1:1q42.13
uncertain significance
NM_000447.3(PSEN2):c.-356A>G single nucleotide variant Alzheimer disease 4 [RCV000343392]|Dilated cardiomyopathy 1V [RCV000286071] Chr1:226870643 [GRCh38]
Chr1:227058344 [GRCh37]
Chr1:1q42.13
benign|likely benign
NM_000447.3(PSEN2):c.*306G>A single nucleotide variant Alzheimer disease 4 [RCV000282681]|Dilated cardiomyopathy 1V [RCV000337634] Chr1:226895885 [GRCh38]
Chr1:227083586 [GRCh37]
Chr1:1q42.13
uncertain significance
NM_000447.3(PSEN2):c.903G>T (p.Thr301=) single nucleotide variant Alzheimer disease 4 [RCV000530428]|Dilated cardiomyopathy 1V [RCV000351210]|not provided [RCV001722290]|not specified [RCV000248749] Chr1:226891294 [GRCh38]
Chr1:227078995 [GRCh37]
Chr1:1q42.13
benign|likely benign
NM_000447.3(PSEN2):c.*120G>A single nucleotide variant Alzheimer disease 4 [RCV000325917]|Dilated cardiomyopathy 1V [RCV000270923] Chr1:226895699 [GRCh38]
Chr1:227083400 [GRCh37]
Chr1:1q42.13
likely benign|uncertain significance
NM_000447.3(PSEN2):c.129C>T (p.Asn43=) single nucleotide variant Alzheimer disease 4 [RCV000576502]|Dilated cardiomyopathy 1V [RCV000378064]|not provided [RCV001651128]|not specified [RCV000244764] Chr1:226882036 [GRCh38]
Chr1:227069737 [GRCh37]
Chr1:1q42.13
benign|likely benign
NM_000447.3(PSEN2):c.261C>T (p.His87=) single nucleotide variant Alzheimer disease 4 [RCV000576709]|Dilated cardiomyopathy 1V [RCV000394749]|not provided [RCV001598635]|not specified [RCV000247730] Chr1:226883824 [GRCh38]
Chr1:227071525 [GRCh37]
Chr1:1q42.13
benign|likely benign
NM_000447.3(PSEN2):c.-82T>C single nucleotide variant Alzheimer disease 4 [RCV000275437]|Dilated cardiomyopathy 1V [RCV000369997] Chr1:226875489 [GRCh38]
Chr1:227063190 [GRCh37]
Chr1:1q42.13
uncertain significance
NM_000447.3(PSEN2):c.366G>A (p.Thr122=) single nucleotide variant Alzheimer disease 4 [RCV000861045]|Dilated cardiomyopathy 1V [RCV001099213]|not provided [RCV001529203]|not specified [RCV000252672] Chr1:226885547 [GRCh38]
Chr1:227073248 [GRCh37]
Chr1:1q42.13
benign|likely benign
NM_000447.3(PSEN2):c.708T>C (p.Ser236=) single nucleotide variant Alzheimer disease 4 [RCV000321741]|Dilated cardiomyopathy 1V [RCV000266614]|not provided [RCV000712877]|not specified [RCV000252997] Chr1:226888970 [GRCh38]
Chr1:227076671 [GRCh37]
Chr1:1q42.13
benign|likely benign
NM_000447.3(PSEN2):c.756G>C (p.Ala252=) single nucleotide variant Alzheimer disease 4 [RCV001080939]|Dilated cardiomyopathy 1V [RCV000376425]|not provided [RCV000861056]|not specified [RCV000243365] Chr1:226889018 [GRCh38]
Chr1:227076719 [GRCh37]
Chr1:1q42.13
benign|likely benign|uncertain significance
NM_000447.3(PSEN2):c.441C>T (p.Ser147=) single nucleotide variant Alzheimer disease 4 [RCV001083607]|Dilated cardiomyopathy 1V [RCV000260833]|not provided [RCV000712876]|not specified [RCV000243458] Chr1:226885622 [GRCh38]
Chr1:227073323 [GRCh37]
Chr1:1q42.13
benign|likely benign
NM_000447.3(PSEN2):c.-338A>G single nucleotide variant Alzheimer disease 4 [RCV000404641]|Dilated cardiomyopathy 1V [RCV000303976] Chr1:226871273 [GRCh38]
Chr1:227058974 [GRCh37]
Chr1:1q42.13
likely benign
NM_000447.3(PSEN2):c.*487G>C single nucleotide variant Alzheimer disease 4 [RCV000303483]|Dilated cardiomyopathy 1V [RCV000358270] Chr1:226896066 [GRCh38]
Chr1:227083767 [GRCh37]
Chr1:1q42.13
benign|likely benign|uncertain significance
NM_000447.3(PSEN2):c.*20G>A single nucleotide variant Alzheimer disease 4 [RCV000304069]|Dilated cardiomyopathy 1V [RCV000397853] Chr1:226895599 [GRCh38]
Chr1:227083300 [GRCh37]
Chr1:1q42.13
uncertain significance
NM_000447.3(PSEN2):c.-278C>T single nucleotide variant Alzheimer disease 4 [RCV000358734]|Dilated cardiomyopathy 1V [RCV000396108] Chr1:226871333 [GRCh38]
Chr1:227059034 [GRCh37]
Chr1:1q42.13
uncertain significance
NM_012486.2(PSEN2):c.-400C>T single nucleotide variant Dilated Cardiomyopathy, Dominant [RCV000404953]|Early-onset autosomal dominant Alzheimer disease [RCV000339828] Chr1:226870599 [GRCh38]
Chr1:227058300 [GRCh37]
Chr1:1q42.13
likely benign
NM_000447.3(PSEN2):c.*405G>T single nucleotide variant Alzheimer disease 4 [RCV000342972]|Dilated cardiomyopathy 1V [RCV000405292] Chr1:226895984 [GRCh38]
Chr1:227083685 [GRCh37]
Chr1:1q42.13
benign|likely benign|uncertain significance
NM_000447.3(PSEN2):c.-275C>T single nucleotide variant Alzheimer disease 4 [RCV000309678]|Dilated cardiomyopathy 1V [RCV000364413] Chr1:226871336 [GRCh38]
Chr1:227059037 [GRCh37]
Chr1:1q42.13
benign|likely benign
NM_000447.3(PSEN2):c.*132T>C single nucleotide variant Alzheimer disease 4 [RCV000295628]|Dilated cardiomyopathy 1V [RCV000389910] Chr1:226895711 [GRCh38]
Chr1:227083412 [GRCh37]
Chr1:1q42.13
uncertain significance
NM_000447.3(PSEN2):c.*103C>T single nucleotide variant Alzheimer disease 4 [RCV000364454]|Dilated cardiomyopathy 1V [RCV000328409] Chr1:226895682 [GRCh38]
Chr1:227083383 [GRCh37]
Chr1:1q42.13
uncertain significance
NM_000447.3(PSEN2):c.-43C>T single nucleotide variant Alzheimer disease 4 [RCV000330575]|Dilated cardiomyopathy 1V [RCV000375861] Chr1:226875528 [GRCh38]
Chr1:227063229 [GRCh37]
Chr1:1q42.13
benign|likely benign
NM_000447.3(PSEN2):c.*270C>T single nucleotide variant Alzheimer disease 4 [RCV000331661]|Dilated cardiomyopathy 1V [RCV000386193]|not provided [RCV001709578] Chr1:226895849 [GRCh38]
Chr1:227083550 [GRCh37]
Chr1:1q42.13
benign|likely benign
NM_000447.3(PSEN2):c.-144A>G single nucleotide variant Alzheimer disease 4 [RCV000269820]|Dilated cardiomyopathy 1V [RCV000315539] Chr1:226875427 [GRCh38]
Chr1:227063128 [GRCh37]
Chr1:1q42.13
uncertain significance
NM_000447.3(PSEN2):c.*72T>C single nucleotide variant Alzheimer disease 4 [RCV000264058]|Dilated cardiomyopathy 1V [RCV000358812] Chr1:226895651 [GRCh38]
Chr1:227083352 [GRCh37]
Chr1:1q42.13
uncertain significance
NM_000447.2(PSEN2):c.*536G>A single nucleotide variant Dilated Cardiomyopathy, Dominant [RCV000332001]|Early-onset autosomal dominant Alzheimer disease [RCV000386484] Chr1:226896115 [GRCh38]
Chr1:227083816 [GRCh37]
Chr1:1q42.13
likely benign
NM_000447.3(PSEN2):c.-184C>T single nucleotide variant Alzheimer disease 4 [RCV001099043]|Dilated cardiomyopathy 1V [RCV001099042] Chr1:226875387 [GRCh38]
Chr1:227063088 [GRCh37]
Chr1:1q42.13
uncertain significance
NM_000447.3(PSEN2):c.132T>A (p.Thr44=) single nucleotide variant Alzheimer disease 4 [RCV000641030]|Dilated cardiomyopathy 1V [RCV001097367] Chr1:226882039 [GRCh38]
Chr1:227069740 [GRCh37]
Chr1:1q42.13
benign|likely benign
NC_000001.11:g.(?_226881888)_(226895599_?)del deletion Alzheimer disease 4 [RCV000641034] Chr1:226881888..226895599 [GRCh38]
Chr1:227069589..227083300 [GRCh37]
Chr1:1q42.13
pathogenic
NM_000447.3(PSEN2):c.712C>T (p.Leu238Phe) single nucleotide variant Alzheimer disease 4 [RCV001857923]|not provided [RCV001755770]|not specified [RCV000518440] Chr1:226888974 [GRCh38]
Chr1:227076675 [GRCh37]
Chr1:1q42.13
uncertain significance
NM_000447.3(PSEN2):c.279G>C (p.Val93=) single nucleotide variant Alzheimer disease 4 [RCV000641033] Chr1:226883842 [GRCh38]
Chr1:227071543 [GRCh37]
Chr1:1q42.13
likely benign
GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3 copy number gain See cases [RCV000449172] Chr1:195483439..249213000 [GRCh37]
Chr1:1q31.3-44
pathogenic
GRCh37/hg19 1q41-44(chr1:214697099-249224684)x3 copy number gain See cases [RCV000449210] Chr1:214697099..249224684 [GRCh37]
Chr1:1q41-44
pathogenic
NM_000447.3(PSEN2):c.448G>A (p.Val150Met) single nucleotide variant Alzheimer disease 4 [RCV001865487]|Huntington disease-like syndrome [RCV000736268]|not provided [RCV000478457] Chr1:226885629 [GRCh38]
Chr1:227073330 [GRCh37]
Chr1:1q42.13
likely pathogenic|uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1q42.11-44(chr1:224105294-249224684)x3 copy number gain See cases [RCV000510981] Chr1:224105294..249224684 [GRCh37]
Chr1:1q42.11-44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
NM_000447.3(PSEN2):c.423C>T (p.Asn141=) single nucleotide variant Alzheimer disease 4 [RCV001088092]|not provided [RCV000712875] Chr1:226885604 [GRCh38]
Chr1:227073305 [GRCh37]
Chr1:1q42.13
benign
NM_000447.3(PSEN2):c.1176C>T (p.Phe392=) single nucleotide variant Alzheimer disease 4 [RCV000641032]|Dilated cardiomyopathy 1V [RCV001099323]|not provided [RCV001529678]|not specified [RCV001289156] Chr1:226894110 [GRCh38]
Chr1:227081811 [GRCh37]
Chr1:1q42.13
benign|likely benign
GRCh37/hg19 1q41-44(chr1:218252551-249224684)x3 copy number gain not provided [RCV000684700] Chr1:218252551..249224684 [GRCh37]
Chr1:1q41-44
pathogenic
NM_000447.3(PSEN2):c.184C>T (p.Arg62Cys) single nucleotide variant Alzheimer disease 4 [RCV000687794]|not provided [RCV001584558] Chr1:226883747 [GRCh38]
Chr1:227071448 [GRCh37]
Chr1:1q42.13
uncertain significance
NM_000447.3(PSEN2):c.89C>T (p.Ser30Phe) single nucleotide variant not provided [RCV000712878] Chr1:226881996 [GRCh38]
Chr1:227069697 [GRCh37]
Chr1:1q42.13
uncertain significance
NM_000447.3(PSEN2):c.487C>T (p.Arg163Cys) single nucleotide variant Alzheimer disease 4 [RCV000690412] Chr1:226885668 [GRCh38]
Chr1:227073369 [GRCh37]
Chr1:1q42.13
uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44
pathogenic
NM_000447.3(PSEN2):c.499-121G>A single nucleotide variant not provided [RCV001571639] Chr1:226887970 [GRCh38]
Chr1:227075671 [GRCh37]
Chr1:1q42.13
likely benign
NM_000447.3(PSEN2):c.887-24T>C single nucleotide variant Alzheimer disease 4 [RCV001789465]|Dilated cardiomyopathy 1V [RCV001789466]|not provided [RCV001648540] Chr1:226891254 [GRCh38]
Chr1:227078955 [GRCh37]
Chr1:1q42.13
benign
NM_000447.3(PSEN2):c.245A>C (p.Lys82Thr) single nucleotide variant not provided [RCV000994268] Chr1:226883808 [GRCh38]
Chr1:227071509 [GRCh37]
Chr1:1q42.13
uncertain significance
NM_000447.3(PSEN2):c.314C>T (p.Thr105Ile) single nucleotide variant not provided [RCV000994269] Chr1:226883877 [GRCh38]
Chr1:227071578 [GRCh37]
Chr1:1q42.13
uncertain significance
GRCh37/hg19 1q41-42.2(chr1:223653722-234591807)x1 copy number loss not provided [RCV001005180] Chr1:223653722..234591807 [GRCh37]
Chr1:1q41-42.2
pathogenic
NM_000447.3(PSEN2):c.1163C>T (p.Thr388Met) single nucleotide variant Alzheimer disease 4 [RCV001463478]|not provided [RCV000981800] Chr1:226894097 [GRCh38]
Chr1:227081798 [GRCh37]
Chr1:1q42.13
likely benign
NM_000447.3(PSEN2):c.1073-10C>T single nucleotide variant Alzheimer disease 4 [RCV001453747]|not provided [RCV000878697] Chr1:226893997 [GRCh38]
Chr1:227081698 [GRCh37]
Chr1:1q42.13
likely benign
NM_000447.3(PSEN2):c.219A>C (p.Pro73=) single nucleotide variant not provided [RCV000904478] Chr1:226883782 [GRCh38]
Chr1:227071483 [GRCh37]
Chr1:1q42.13
likely benign
NM_000447.3(PSEN2):c.507T>C (p.His169=) single nucleotide variant not provided [RCV000877196] Chr1:226888099 [GRCh38]
Chr1:227075800 [GRCh37]
Chr1:1q42.13
likely benign
NM_000447.3(PSEN2):c.772G>A (p.Ala258Thr) single nucleotide variant Alzheimer disease 4 [RCV000808312] Chr1:226889034 [GRCh38]
Chr1:227076735 [GRCh37]
Chr1:1q42.13
uncertain significance
NM_000447.3(PSEN2):c.207C>T (p.Pro69=) single nucleotide variant Alzheimer disease 4 [RCV000952324] Chr1:226883770 [GRCh38]
Chr1:227071471 [GRCh37]
Chr1:1q42.13
likely benign
NM_000447.3(PSEN2):c.120T>C (p.Asp40=) single nucleotide variant not provided [RCV000941694] Chr1:226882027 [GRCh38]
Chr1:227069728 [GRCh37]
Chr1:1q42.13
likely benign
NM_000447.3(PSEN2):c.162G>C (p.Glu54Asp) single nucleotide variant Alzheimer disease 4 [RCV001488849]|not provided [RCV000876027] Chr1:226883725 [GRCh38]
Chr1:227071426 [GRCh37]
Chr1:1q42.13
likely benign
NM_000447.3(PSEN2):c.855T>C (p.Asn285=) single nucleotide variant not provided [RCV000979609] Chr1:226890102 [GRCh38]
Chr1:227077803 [GRCh37]
Chr1:1q42.13
likely benign
NM_000447.3(PSEN2):c.753C>T (p.Ser251=) single nucleotide variant Alzheimer disease 4 [RCV002064779]|not provided [RCV000874785] Chr1:226889015 [GRCh38]
Chr1:227076716 [GRCh37]
Chr1:1q42.13
likely benign
NM_000447.3(PSEN2):c.1164G>C (p.Thr388=) single nucleotide variant Alzheimer disease 4 [RCV002066025]|not provided [RCV000925806] Chr1:226894098 [GRCh38]
Chr1:227081799 [GRCh37]
Chr1:1q42.13
likely benign
NM_000447.3(PSEN2):c.100G>A (p.Gly34Ser) single nucleotide variant Alzheimer disease 4 [RCV000894684]|Dilated cardiomyopathy 1V [RCV001101118] Chr1:226882007 [GRCh38]
Chr1:227069708 [GRCh37]
Chr1:1q42.13
benign|likely benign|uncertain significance
NM_000447.3(PSEN2):c.390G>C (p.Ser130=) single nucleotide variant Alzheimer disease 4 [RCV002064807]|not provided [RCV000875370] Chr1:226885571 [GRCh38]
Chr1:227073272 [GRCh37]
Chr1:1q42.13
likely benign
NM_000447.3(PSEN2):c.305T>C (p.Val102Ala) single nucleotide variant Alzheimer disease 4 [RCV000806693] Chr1:226883868 [GRCh38]
Chr1:227071569 [GRCh37]
Chr1:1q42.13
uncertain significance
NM_000447.3(PSEN2):c.1140G>A (p.Thr380=) single nucleotide variant Alzheimer disease 4 [RCV001481402]|not provided [RCV000936234] Chr1:226894074 [GRCh38]
Chr1:227081775 [GRCh37]
Chr1:1q42.13
likely benign
NM_000447.3(PSEN2):c.970+3_970+6del deletion not provided [RCV000994270] Chr1:226891362..226891365 [GRCh38]
Chr1:227079063..227079066 [GRCh37]
Chr1:1q42.13
uncertain significance
GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3 copy number gain not provided [RCV000845852] Chr1:182388773..249111240 [GRCh37]
Chr1:1q25.3-44
pathogenic
NM_000447.3(PSEN2):c.241C>T (p.Leu81Phe) single nucleotide variant Alzheimer disease 4 [RCV000800734] Chr1:226883804 [GRCh38]
Chr1:227071505 [GRCh37]
Chr1:1q42.13
uncertain significance
NM_000447.3(PSEN2):c.-278C>A single nucleotide variant Alzheimer disease 4 [RCV001099041]|Dilated cardiomyopathy 1V [RCV001097290] Chr1:226871333 [GRCh38]
Chr1:227059034 [GRCh37]
Chr1:1q42.13
uncertain significance
NM_000447.3(PSEN2):c.1308G>A (p.Pro436=) single nucleotide variant Alzheimer disease 4 [RCV001095871]|Dilated cardiomyopathy 1V [RCV001101320] Chr1:226895540 [GRCh38]
Chr1:227083241 [GRCh37]
Chr1:1q42.13
uncertain significance
NM_000447.3(PSEN2):c.300C>T (p.Ile100=) single nucleotide variant Alzheimer disease 4 [RCV001099116]|Dilated cardiomyopathy 1V [RCV001099115]|not provided [RCV000876826] Chr1:226883863 [GRCh38]
Chr1:227071564 [GRCh37]
Chr1:1q42.13
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000447.3(PSEN2):c.1200T>C (p.Cys400=) single nucleotide variant Alzheimer disease 4 [RCV000861330] Chr1:226895432 [GRCh38]
Chr1:227083133 [GRCh37]
Chr1:1q42.13
benign
NM_000447.3(PSEN2):c.1177G>A (p.Val393Met) single nucleotide variant Alzheimer disease 4 [RCV001099324]|Dilated cardiomyopathy 1V [RCV001101313]|not provided [RCV001531664] Chr1:226894111 [GRCh38]
Chr1:227081812 [GRCh37]
Chr1:1q42.13
uncertain significance
NM_000447.3(PSEN2):c.*378G>C single nucleotide variant Alzheimer disease 4 [RCV001099434]|Dilated cardiomyopathy 1V [RCV001099435] Chr1:226895957 [GRCh38]
Chr1:227083658 [GRCh37]
Chr1:1q42.13
uncertain significance
GRCh37/hg19 1q41-43(chr1:219916966-239004378)x3 copy number gain not provided [RCV001005175] Chr1:219916966..239004378 [GRCh37]
Chr1:1q41-43
pathogenic
GRCh37/hg19 1q41-42.13(chr1:222641389-228137574)x1 copy number loss not provided [RCV001005178] Chr1:222641389..228137574 [GRCh37]
Chr1:1q41-42.13
pathogenic
GRCh37/hg19 1q42.12-42.13(chr1:226853676-227246753)x1 copy number loss not provided [RCV000845932] Chr1:226853676..227246753 [GRCh37]
Chr1:1q42.12-42.13
uncertain significance
GRCh37/hg19 1q42.13(chr1:227013682-227122231)x3 copy number gain not provided [RCV000846858] Chr1:227013682..227122231 [GRCh37]
Chr1:1q42.13
uncertain significance
NM_000447.3(PSEN2):c.928T>C (p.Ser310Pro) single nucleotide variant Alzheimer disease 4 [RCV001218471] Chr1:226891319 [GRCh38]
Chr1:227079020 [GRCh37]
Chr1:1q42.13
uncertain significance
NM_000447.3(PSEN2):c.1139C>T (p.Thr380Met) single nucleotide variant not provided [RCV000992721] Chr1:226894073 [GRCh38]
Chr1:227081774 [GRCh37]
Chr1:1q42.13
uncertain significance
NM_000447.3(PSEN2):c.482A>G (p.Lys161Arg) single nucleotide variant Alzheimer disease 4 [RCV001248445] Chr1:226885663 [GRCh38]
Chr1:227073364 [GRCh37]
Chr1:1q42.13
uncertain significance
NM_000447.3(PSEN2):c.1304G>A (p.Arg435Gln) single nucleotide variant Alzheimer disease 4 [RCV001101318]|Dilated cardiomyopathy 1V [RCV001101319] Chr1:226895536 [GRCh38]
Chr1:227083237 [GRCh37]
Chr1:1q42.13
uncertain significance
NM_000447.3(PSEN2):c.1072+155C>T single nucleotide variant not provided [RCV001670786] Chr1:226891999 [GRCh38]
Chr1:227079700 [GRCh37]
Chr1:1q42.13
benign
NM_000447.3(PSEN2):c.1191+24G>A single nucleotide variant Alzheimer disease 4 [RCV001789463]|Dilated cardiomyopathy 1V [RCV001789464]|not provided [RCV001648373] Chr1:226894149 [GRCh38]
Chr1:227081850 [GRCh37]
Chr1:1q42.13
benign
NM_000447.3(PSEN2):c.566+125G>A single nucleotide variant not provided [RCV001677486] Chr1:226888283 [GRCh38]
Chr1:227075984 [GRCh37]
Chr1:1q42.13
benign
NM_000447.3(PSEN2):c.787+245del deletion not provided [RCV001577341] Chr1:226889282 [GRCh38]
Chr1:227076983 [GRCh37]
Chr1:1q42.13
likely benign
NM_000447.3(PSEN2):c.356+146T>C single nucleotide variant not provided [RCV001691572] Chr1:226884065 [GRCh38]
Chr1:227071766 [GRCh37]
Chr1:1q42.13
benign
NM_000447.3(PSEN2):c.1191+279G>C single nucleotide variant not provided [RCV001609205] Chr1:226894404 [GRCh38]
Chr1:227082105 [GRCh37]
Chr1:1q42.13
benign
NM_000447.3(PSEN2):c.141+125C>G single nucleotide variant not provided [RCV001621751] Chr1:226882173 [GRCh38]
Chr1:227069874 [GRCh37]
Chr1:1q42.13
benign
NM_000447.3(PSEN2):c.566+80C>T single nucleotide variant not provided [RCV001559556] Chr1:226888238 [GRCh38]
Chr1:227075939 [GRCh37]
Chr1:1q42.13
likely benign
NM_000447.3(PSEN2):c.566+201A>G single nucleotide variant not provided [RCV001657115] Chr1:226888359 [GRCh38]
Chr1:227076060 [GRCh37]
Chr1:1q42.13
benign
NM_000447.3(PSEN2):c.520A>G (p.Met174Val) single nucleotide variant Alzheimer disease 4 [RCV000861602]|not specified [RCV001664491] Chr1:226888112 [GRCh38]
Chr1:227075813 [GRCh37]
Chr1:1q42.13
benign|likely benign
NM_000447.3(PSEN2):c.1077C>G (p.Gly359=) single nucleotide variant not provided [RCV000883666] Chr1:226894011 [GRCh38]
Chr1:227081712 [GRCh37]
Chr1:1q42.13
likely benign
NM_000447.3(PSEN2):c.639A>G (p.Ala213=) single nucleotide variant Alzheimer disease 4 [RCV001101217]|Dilated cardiomyopathy 1V [RCV001101218]|not provided [RCV000919403] Chr1:226888901 [GRCh38]
Chr1:227076602 [GRCh37]
Chr1:1q42.13
likely benign
NM_000447.3(PSEN2):c.1029C>T (p.Pro343=) single nucleotide variant not provided [RCV000941092] Chr1:226891801 [GRCh38]
Chr1:227079502 [GRCh37]
Chr1:1q42.13
likely benign
NM_000447.3(PSEN2):c.84G>A (p.Pro28=) single nucleotide variant not provided [RCV000925680] Chr1:226881991 [GRCh38]
Chr1:227069692 [GRCh37]
Chr1:1q42.13
likely benign
NM_000447.3(PSEN2):c.754G>A (p.Ala252Thr) single nucleotide variant Alzheimer disease 4 [RCV001097462]|Dilated cardiomyopathy 1V [RCV001097461]|not provided [RCV000876436] Chr1:226889016 [GRCh38]
Chr1:227076717 [GRCh37]
Chr1:1q42.13
benign|likely benign|uncertain significance
NM_000447.3(PSEN2):c.606C>G (p.Pro202=) single nucleotide variant not provided [RCV001529859] Chr1:226888868 [GRCh38]
Chr1:227076569 [GRCh37]
Chr1:1q42.13
likely benign
NM_000447.3(PSEN2):c.414C>T (p.Ser138=) single nucleotide variant not provided [RCV000912277] Chr1:226885595 [GRCh38]
Chr1:227073296 [GRCh37]
Chr1:1q42.13
likely benign
NM_000447.3(PSEN2):c.566+61A>G single nucleotide variant not provided [RCV001551524] Chr1:226888219 [GRCh38]
Chr1:227075920 [GRCh37]
Chr1:1q42.13
likely benign
NM_000447.3(PSEN2):c.53C>T (p.Thr18Met) single nucleotide variant Vascular dementia [RCV001263187] Chr1:226881960 [GRCh38]
Chr1:227069661 [GRCh37]
Chr1:1q42.13
uncertain significance
NM_000447.3(PSEN2):c.142-29T>C single nucleotide variant Alzheimer disease 4 [RCV001789497]|Dilated cardiomyopathy 1V [RCV001789498]|not provided [RCV001671790] Chr1:226883676 [GRCh38]
Chr1:227071377 [GRCh37]
Chr1:1q42.13
benign
NM_000447.3(PSEN2):c.356+50A>G single nucleotide variant not provided [RCV001641195] Chr1:226883969 [GRCh38]
Chr1:227071670 [GRCh37]
Chr1:1q42.13
benign
NM_000447.3(PSEN2):c.1073-86A>G single nucleotide variant not provided [RCV001598220] Chr1:226893921 [GRCh38]
Chr1:227081622 [GRCh37]
Chr1:1q42.13
benign
NM_000447.3(PSEN2):c.356+83A>C single nucleotide variant not provided [RCV001719633] Chr1:226884002 [GRCh38]
Chr1:227071703 [GRCh37]
Chr1:1q42.13
benign
NM_000447.3(PSEN2):c.787+66C>A single nucleotide variant not provided [RCV001719634] Chr1:226889115 [GRCh38]
Chr1:227076816 [GRCh37]
Chr1:1q42.13
benign
NM_000447.3(PSEN2):c.971-143G>C single nucleotide variant not provided [RCV001719636] Chr1:226891600 [GRCh38]
Chr1:227079301 [GRCh37]
Chr1:1q42.13
benign
NM_000447.3(PSEN2):c.711G>A (p.Ala237=) single nucleotide variant Alzheimer disease 4 [RCV001097458]|Dilated cardiomyopathy 1V [RCV001097457] Chr1:226888973 [GRCh38]
Chr1:227076674 [GRCh37]
Chr1:1q42.13
likely benign|uncertain significance
NM_000447.3(PSEN2):c.729C>G (p.Phe243Leu) single nucleotide variant Alzheimer disease 4 [RCV001097460]|Dilated cardiomyopathy 1V [RCV001097459] Chr1:226888991 [GRCh38]
Chr1:227076692 [GRCh37]
Chr1:1q42.13
uncertain significance
NM_000447.3(PSEN2):c.927C>T (p.Pro309=) single nucleotide variant Alzheimer disease 4 [RCV001097562]|Dilated cardiomyopathy 1V [RCV001097561] Chr1:226891318 [GRCh38]
Chr1:227079019 [GRCh37]
Chr1:1q42.13
uncertain significance
NM_000447.3(PSEN2):c.*210G>A single nucleotide variant Alzheimer disease 4 [RCV001097666]|Dilated cardiomyopathy 1V [RCV001097667] Chr1:226895789 [GRCh38]
Chr1:227083490 [GRCh37]
Chr1:1q42.13
uncertain significance
NM_000447.3(PSEN2):c.1262C>T (p.Thr421Met) single nucleotide variant Alzheimer disease 4 [RCV001101316]|Dilated cardiomyopathy 1V [RCV001101317] Chr1:226895494 [GRCh38]
Chr1:227083195 [GRCh37]
Chr1:1q42.13
uncertain significance
NM_000447.3(PSEN2):c.1245C>T (p.Ala415=) single nucleotide variant Alzheimer disease 4 [RCV001101315]|Dilated cardiomyopathy 1V [RCV001101314] Chr1:226895477 [GRCh38]
Chr1:227083178 [GRCh37]
Chr1:1q42.13
uncertain significance
NM_000447.3(PSEN2):c.142-23C>T single nucleotide variant not provided [RCV001616032] Chr1:226883682 [GRCh38]
Chr1:227071383 [GRCh37]
Chr1:1q42.13
benign
NM_000447.3(PSEN2):c.970+160C>G single nucleotide variant not provided [RCV001690112] Chr1:226891521 [GRCh38]
Chr1:227079222 [GRCh37]
Chr1:1q42.13
benign
NM_000447.3(PSEN2):c.498+30G>C single nucleotide variant Alzheimer disease 4 [RCV001789542]|Dilated cardiomyopathy 1V [RCV001789543]|not provided [RCV001710917] Chr1:226885709 [GRCh38]
Chr1:227073410 [GRCh37]
Chr1:1q42.13
benign
GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3 copy number gain See cases [RCV001007407] Chr1:204045948..249218992 [GRCh37]
Chr1:1q32.1-44
pathogenic
Single allele single nucleotide variant not provided [RCV001531665] Chr1:226898653 [GRCh38]
Chr1:227086354 [GRCh37]
Chr1:1q42.13
likely benign
NM_000447.3(PSEN2):c.80C>T (p.Thr27Met) single nucleotide variant Alzheimer disease 4 [RCV001060794] Chr1:226881987 [GRCh38]
Chr1:227069688 [GRCh37]
Chr1:1q42.13
uncertain significance
GRCh37/hg19 1q32.2-44(chr1:210152794-249218992)x3 copy number gain See cases [RCV001194578] Chr1:210152794..249218992 [GRCh37]
Chr1:1q32.2-44
pathogenic
NM_000447.3(PSEN2):c.-136G>A single nucleotide variant Alzheimer disease 4 [RCV001100850]|Dilated cardiomyopathy 1V [RCV001100851] Chr1:226875435 [GRCh38]
Chr1:227063136 [GRCh37]
Chr1:1q42.13
uncertain significance
NM_000447.3(PSEN2):c.*284T>A single nucleotide variant Alzheimer disease 4 [RCV001099433]|Dilated cardiomyopathy 1V [RCV001097668] Chr1:226895863 [GRCh38]
Chr1:227083564 [GRCh37]
Chr1:1q42.13
uncertain significance
NM_000447.3(PSEN2):c.*479G>T single nucleotide variant Alzheimer disease 4 [RCV001101429]|Dilated cardiomyopathy 1V [RCV001101428] Chr1:226896058 [GRCh38]
Chr1:227083759 [GRCh37]
Chr1:1q42.13
uncertain significance
NM_000447.3(PSEN2):c.886+233C>T single nucleotide variant not provided [RCV001641827] Chr1:226890366 [GRCh38]
Chr1:227078067 [GRCh37]
Chr1:1q42.13
benign
NM_000447.3(PSEN2):c.557dup (p.Tyr187fs) duplication Alzheimer disease, type 4 [RCV001293887] Chr1:226888148..226888149 [GRCh38]
Chr1:227075849..227075850 [GRCh37]
Chr1:1q42.13
pathogenic
NC_000001.10:g.(?_130980840)_(248900000_?)dup duplication Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] Chr1:130980840..248900000 [GRCh37]
Chr1:1q12-44
uncertain significance
NM_000447.3(PSEN2):c.31del (p.Glu11fs) deletion not provided [RCV001663890] Chr1:226881937 [GRCh38]
Chr1:227069638 [GRCh37]
Chr1:1q42.13
uncertain significance
NM_000447.3(PSEN2):c.401G>A (p.Arg134His) single nucleotide variant Alzheimer disease 4 [RCV001321692] Chr1:226885582 [GRCh38]
Chr1:227073283 [GRCh37]
Chr1:1q42.13
uncertain significance
NM_000447.3(PSEN2):c.203T>C (p.Val68Ala) single nucleotide variant Alzheimer disease 4 [RCV001363163] Chr1:226883766 [GRCh38]
Chr1:227071467 [GRCh37]
Chr1:1q42.13
uncertain significance
NM_000447.3(PSEN2):c.260_261inv (p.His87Arg) inversion Alzheimer disease 4 [RCV001372874] Chr1:226883823..226883824 [GRCh38]
Chr1:227071524..227071525 [GRCh37]
Chr1:1q42.13
uncertain significance
NM_000447.3(PSEN2):c.640G>T (p.Val214Leu) single nucleotide variant Alzheimer disease 4 [RCV002070239]|not provided [RCV001358553]|not specified [RCV002246336] Chr1:226888902 [GRCh38]
Chr1:227076603 [GRCh37]
Chr1:1q42.13
benign|uncertain significance
NM_000447.3(PSEN2):c.971-9G>C single nucleotide variant Alzheimer disease 4 [RCV001475305] Chr1:226891734 [GRCh38]
Chr1:227079435 [GRCh37]
Chr1:1q42.13
likely benign
NM_000447.3(PSEN2):c.201G>C (p.Gly67=) single nucleotide variant Alzheimer disease 4 [RCV001499840] Chr1:226883764 [GRCh38]
Chr1:227071465 [GRCh37]
Chr1:1q42.13
likely benign
NM_000447.3(PSEN2):c.1257C>T (p.Ser419=) single nucleotide variant Alzheimer disease 4 [RCV001435555] Chr1:226895489 [GRCh38]
Chr1:227083190 [GRCh37]
Chr1:1q42.13
likely benign
NM_000447.3(PSEN2):c.1072+169C>G single nucleotide variant not provided [RCV001540041] Chr1:226892013 [GRCh38]
Chr1:227079714 [GRCh37]
Chr1:1q42.13
benign
NM_000447.3(PSEN2):c.788-90G>C single nucleotide variant not provided [RCV001652838] Chr1:226889945 [GRCh38]
Chr1:227077646 [GRCh37]
Chr1:1q42.13
benign
NM_000447.3(PSEN2):c.141+30A>G single nucleotide variant not provided [RCV001587895] Chr1:226882078 [GRCh38]
Chr1:227069779 [GRCh37]
Chr1:1q42.13
likely benign
NM_000447.3(PSEN2):c.787+205C>T single nucleotide variant not provided [RCV001611420] Chr1:226889254 [GRCh38]
Chr1:227076955 [GRCh37]
Chr1:1q42.13
benign
NM_000447.3(PSEN2):c.843C>T (p.Ala281=) single nucleotide variant Alzheimer disease 4 [RCV001452176] Chr1:226890090 [GRCh38]
Chr1:227077791 [GRCh37]
Chr1:1q42.13
likely benign
NM_000447.3(PSEN2):c.1072+276G>A single nucleotide variant not provided [RCV001686590] Chr1:226892120 [GRCh38]
Chr1:227079821 [GRCh37]
Chr1:1q42.13
benign
NM_000447.3(PSEN2):c.887-258T>A single nucleotide variant not provided [RCV001647933] Chr1:226891020 [GRCh38]
Chr1:227078721 [GRCh37]
Chr1:1q42.13
benign
NM_000447.3(PSEN2):c.142-42G>A single nucleotide variant Alzheimer disease 4 [RCV001789505]|Dilated cardiomyopathy 1V [RCV001789506]|not provided [RCV001674948] Chr1:226883663 [GRCh38]
Chr1:227071364 [GRCh37]
Chr1:1q42.13
benign
NM_000447.3(PSEN2):c.505C>A (p.His169Asn) single nucleotide variant Alzheimer disease 4 [RCV001423308]|not specified [RCV002246384] Chr1:226888097 [GRCh38]
Chr1:227075798 [GRCh37]
Chr1:1q42.13
benign|likely benign
NM_000447.3(PSEN2):c.1284C>T (p.Phe428=) single nucleotide variant Alzheimer disease 4 [RCV001467971] Chr1:226895516 [GRCh38]
Chr1:227083217 [GRCh37]
Chr1:1q42.13
likely benign
NM_000447.3(PSEN2):c.140G>A (p.Trp47Ter) single nucleotide variant not specified [RCV002248138] Chr1:226882047 [GRCh38]
Chr1:227069748 [GRCh37]
Chr1:1q42.13
uncertain significance
Single allele single nucleotide variant not provided [RCV001726785] Chr1:226898403 [GRCh38]
Chr1:227086104 [GRCh37]
Chr1:1q42.13
likely benign
NM_000447.3(PSEN2):c.1191+104C>T single nucleotide variant not provided [RCV001757721] Chr1:226894229 [GRCh38]
Chr1:227081930 [GRCh37]
Chr1:1q42.13
likely benign
NM_000447.3(PSEN2):c.850A>G (p.Arg284Gly) single nucleotide variant not provided [RCV001782688] Chr1:226890097 [GRCh38]
Chr1:227077798 [GRCh37]
Chr1:1q42.13
likely pathogenic
NM_000447.3(PSEN2):c.566+57G>A single nucleotide variant not provided [RCV001786100] Chr1:226888215 [GRCh38]
Chr1:227075916 [GRCh37]
Chr1:1q42.13
likely benign
NM_000447.3(PSEN2):c.787+245dup duplication not provided [RCV001786272] Chr1:226889281..226889282 [GRCh38]
Chr1:227076982..227076983 [GRCh37]
Chr1:1q42.13
likely benign
NM_000447.3(PSEN2):c.1072+98G>A single nucleotide variant not provided [RCV001757720] Chr1:226891942 [GRCh38]
Chr1:227079643 [GRCh37]
Chr1:1q42.13
likely benign
NM_000447.3(PSEN2):c.141+58A>G single nucleotide variant not provided [RCV001753258] Chr1:226882106 [GRCh38]
Chr1:227069807 [GRCh37]
Chr1:1q42.13
likely benign
GRCh37/hg19 1q41-42.13(chr1:221303919-227461343) copy number gain not specified [RCV002052845] Chr1:221303919..227461343 [GRCh37]
Chr1:1q41-42.13
pathogenic
NM_000447.3(PSEN2):c.81_82delinsAA (p.Pro28Thr) indel Alzheimer disease 4 [RCV001928174] Chr1:226881988..226881989 [GRCh38]
Chr1:227069689..227069690 [GRCh37]
Chr1:1q42.13
uncertain significance
GRCh37/hg19 1q42.12-42.2(chr1:226131690-231908227) copy number loss not specified [RCV002052878] Chr1:226131690..231908227 [GRCh37]
Chr1:1q42.12-42.2
likely pathogenic
NM_000447.3(PSEN2):c.85C>T (p.Arg29Cys) single nucleotide variant Alzheimer disease 4 [RCV001985484] Chr1:226881992 [GRCh38]
Chr1:227069693 [GRCh37]
Chr1:1q42.13
uncertain significance
NM_000447.3(PSEN2):c.277G>A (p.Val93Met) single nucleotide variant Alzheimer disease 4 [RCV001913141] Chr1:226883840 [GRCh38]
Chr1:227071541 [GRCh37]
Chr1:1q42.13
uncertain significance
NC_000001.10:g.(?_225591005)_(227174438_?)dup duplication not provided [RCV001928108] Chr1:225591005..227174438 [GRCh37]
Chr1:1q42.12-42.13
uncertain significance
NM_000447.3(PSEN2):c.584A>G (p.Tyr195Cys) single nucleotide variant Dilated cardiomyopathy 1V [RCV001823431] Chr1:226888846 [GRCh38]
Chr1:227076547 [GRCh37]
Chr1:1q42.13
uncertain significance
NM_000447.3(PSEN2):c.139T>G (p.Trp47Gly) single nucleotide variant Alzheimer disease 4 [RCV001894357] Chr1:226882046 [GRCh38]
Chr1:227069747 [GRCh37]
Chr1:1q42.13
uncertain significance
NM_000447.3(PSEN2):c.298A>G (p.Ile100Val) single nucleotide variant Alzheimer disease 4 [RCV001975441] Chr1:226883861 [GRCh38]
Chr1:227071562 [GRCh37]
Chr1:1q42.13
uncertain significance
NM_000447.3(PSEN2):c.671C>T (p.Pro224Leu) single nucleotide variant Alzheimer disease 4 [RCV001991186] Chr1:226888933 [GRCh38]
Chr1:227076634 [GRCh37]
Chr1:1q42.13
uncertain significance
NM_000447.3(PSEN2):c.1330C>T (p.His444Tyr) single nucleotide variant Alzheimer disease 4 [RCV002030138] Chr1:226895562 [GRCh38]
Chr1:227083263 [GRCh37]
Chr1:1q42.13
uncertain significance
NM_000447.3(PSEN2):c.1160C>T (p.Thr387Ile) single nucleotide variant Alzheimer disease 4 [RCV001997074]|not provided [RCV002224120] Chr1:226894094 [GRCh38]
Chr1:227081795 [GRCh37]
Chr1:1q42.13
uncertain significance
NM_000447.3(PSEN2):c.887-3C>T single nucleotide variant Alzheimer disease 4 [RCV002017159] Chr1:226891275 [GRCh38]
Chr1:227078976 [GRCh37]
Chr1:1q42.13
uncertain significance
NM_000447.3(PSEN2):c.1046G>A (p.Gly349Glu) single nucleotide variant Alzheimer disease 4 [RCV001998246] Chr1:226891818 [GRCh38]
Chr1:227079519 [GRCh37]
Chr1:1q42.13
uncertain significance
NM_000447.3(PSEN2):c.956A>G (p.Tyr319Cys) single nucleotide variant Alzheimer disease 4 [RCV001960122] Chr1:226891347 [GRCh38]
Chr1:227079048 [GRCh37]
Chr1:1q42.13
uncertain significance
NM_000447.3(PSEN2):c.165C>T (p.Asp55=) single nucleotide variant Alzheimer disease 4 [RCV002207852] Chr1:226883728 [GRCh38]
Chr1:227071429 [GRCh37]
Chr1:1q42.13
likely benign
NM_000447.3(PSEN2):c.307G>A (p.Val103Ile) single nucleotide variant not provided [RCV002224663] Chr1:226883870 [GRCh38]
Chr1:227071571 [GRCh37]
Chr1:1q42.13
uncertain significance
NM_000447.3(PSEN2):c.1011C>T (p.Pro337=) single nucleotide variant Alzheimer disease 4 [RCV002184941] Chr1:226891783 [GRCh38]
Chr1:227079484 [GRCh37]
Chr1:1q42.13
likely benign
NM_000447.3(PSEN2):c.177C>T (p.Asp59=) single nucleotide variant Alzheimer disease 4 [RCV002104562] Chr1:226883740 [GRCh38]
Chr1:227071441 [GRCh37]
Chr1:1q42.13
likely benign
NM_000447.3(PSEN2):c.902C>T (p.Thr301Met) single nucleotide variant not provided [RCV002224930] Chr1:226891293 [GRCh38]
Chr1:227078994 [GRCh37]
Chr1:1q42.13
uncertain significance
NM_000447.3(PSEN2):c.886+16G>A single nucleotide variant Alzheimer disease 4 [RCV002185321] Chr1:226890149 [GRCh38]
Chr1:227077850 [GRCh37]
Chr1:1q42.13
benign
NM_000447.3(PSEN2):c.141+11C>G single nucleotide variant Alzheimer disease 4 [RCV002109473] Chr1:226882059 [GRCh38]
Chr1:227069760 [GRCh37]
Chr1:1q42.13
likely benign
NM_000447.3(PSEN2):c.372C>T (p.Phe124=) single nucleotide variant Alzheimer disease 4 [RCV002209626] Chr1:226885553 [GRCh38]
Chr1:227073254 [GRCh37]
Chr1:1q42.13
likely benign
NM_000447.3(PSEN2):c.-349-115A>G single nucleotide variant not provided [RCV002223361] Chr1:226871147 [GRCh38]
Chr1:227058848 [GRCh37]
Chr1:1q42.13
uncertain significance
NM_000447.3(PSEN2):c.156C>T (p.Asn52=) single nucleotide variant Alzheimer disease 4 [RCV002076406] Chr1:226883719 [GRCh38]
Chr1:227071420 [GRCh37]
Chr1:1q42.13
likely benign
NM_000447.3(PSEN2):c.787+8G>A single nucleotide variant Alzheimer disease 4 [RCV002094187] Chr1:226889057 [GRCh38]
Chr1:227076758 [GRCh37]
Chr1:1q42.13
likely benign
NM_000447.3(PSEN2):c.1269G>A (p.Gly423=) single nucleotide variant Alzheimer disease 4 [RCV002093178] Chr1:226895501 [GRCh38]
Chr1:227083202 [GRCh37]
Chr1:1q42.13
likely benign
NM_000447.3(PSEN2):c.273G>C (p.Leu91=) single nucleotide variant Alzheimer disease 4 [RCV002132656] Chr1:226883836 [GRCh38]
Chr1:227071537 [GRCh37]
Chr1:1q42.13
likely benign
NM_000447.3(PSEN2):c.519C>T (p.Ile173=) single nucleotide variant Alzheimer disease 4 [RCV002201091] Chr1:226888111 [GRCh38]
Chr1:227075812 [GRCh37]
Chr1:1q42.13
likely benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9509 AgrOrtholog
COSMIC PSEN2 COSMIC
Ensembl Genes ENSG00000143801 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000355746 UniProtKB/TrEMBL
  ENSP00000355746.2 UniProtKB/Swiss-Prot
  ENSP00000355747 ENTREZGENE
  ENSP00000355747.3 UniProtKB/Swiss-Prot
  ENSP00000403737 ENTREZGENE
  ENSP00000403737.2 UniProtKB/Swiss-Prot
  ENSP00000427806.1 UniProtKB/TrEMBL
  ENSP00000427912.1 UniProtKB/TrEMBL
  ENSP00000429036 UniProtKB/TrEMBL
  ENSP00000429036.2 UniProtKB/Swiss-Prot
  ENSP00000429682.1 UniProtKB/TrEMBL
  ENSP00000486498 UniProtKB/TrEMBL
  ENSP00000486498.2 UniProtKB/Swiss-Prot
  ENSP00000503116 ENTREZGENE
  ENSP00000503116.1 UniProtKB/Swiss-Prot
  ENSP00000503121.1 UniProtKB/TrEMBL
  ENSP00000503244 ENTREZGENE
  ENSP00000503244.1 UniProtKB/TrEMBL
  ENSP00000503618.1 UniProtKB/TrEMBL
  ENSP00000503659.1 UniProtKB/TrEMBL
  ENSP00000503673.1 UniProtKB/TrEMBL
  ENSP00000503680.1 UniProtKB/TrEMBL
  ENSP00000504138.1 UniProtKB/TrEMBL
  ENSP00000504230.1 UniProtKB/TrEMBL
  ENSP00000504294.1 UniProtKB/TrEMBL
  ENSP00000504303.1 UniProtKB/Swiss-Prot
  ENSP00000504318.1 UniProtKB/TrEMBL
  ENSP00000504343.1 UniProtKB/TrEMBL
  ENSP00000504410.1 UniProtKB/TrEMBL
  ENSP00000504433.1 UniProtKB/TrEMBL
  ENSP00000504483.1 UniProtKB/TrEMBL
  ENSP00000504624.1 UniProtKB/TrEMBL
  ENSP00000504652.1 UniProtKB/TrEMBL
  ENSP00000504674.1 UniProtKB/TrEMBL
  ENSP00000504727 ENTREZGENE
  ENSP00000504727.1 UniProtKB/Swiss-Prot
  ENSP00000504728.1 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000366782 UniProtKB/TrEMBL
  ENST00000366782.6 UniProtKB/Swiss-Prot
  ENST00000366783 ENTREZGENE
  ENST00000366783.8 UniProtKB/Swiss-Prot
  ENST00000422240 ENTREZGENE
  ENST00000422240.6 UniProtKB/Swiss-Prot
  ENST00000460775.5 UniProtKB/TrEMBL
  ENST00000472139.2 UniProtKB/TrEMBL
  ENST00000495488.5 UniProtKB/TrEMBL
  ENST00000524196 UniProtKB/TrEMBL
  ENST00000524196.6 UniProtKB/Swiss-Prot
  ENST00000626989 UniProtKB/TrEMBL
  ENST00000626989.3 UniProtKB/Swiss-Prot
  ENST00000676467.1 UniProtKB/TrEMBL
  ENST00000676747 ENTREZGENE
  ENST00000676747.1 UniProtKB/TrEMBL
  ENST00000676840 ENTREZGENE
  ENST00000676840.1 UniProtKB/TrEMBL
  ENST00000676888.1 UniProtKB/TrEMBL
  ENST00000676907.1 UniProtKB/TrEMBL
  ENST00000676945.1 UniProtKB/TrEMBL
  ENST00000677414 ENTREZGENE
  ENST00000677414.1 UniProtKB/Swiss-Prot
  ENST00000677596.1 UniProtKB/TrEMBL
  ENST00000677599.1 UniProtKB/TrEMBL
  ENST00000677880.1 UniProtKB/TrEMBL
  ENST00000678021.1 UniProtKB/TrEMBL
  ENST00000678233.1 UniProtKB/Swiss-Prot
  ENST00000678320.1 UniProtKB/TrEMBL
  ENST00000678655.1 UniProtKB/TrEMBL
  ENST00000678706.1 UniProtKB/TrEMBL
  ENST00000678776.1 UniProtKB/TrEMBL
  ENST00000678784.1 UniProtKB/TrEMBL
  ENST00000678820.1 UniProtKB/TrEMBL
  ENST00000678835.1 UniProtKB/TrEMBL
  ENST00000679088 ENTREZGENE
  ENST00000679088.1 UniProtKB/Swiss-Prot
  ENST00000679098.1 UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.472.100 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000143801 GTEx
HGNC ID HGNC:9509 ENTREZGENE
Human Proteome Map PSEN2 Human Proteome Map
InterPro Pept_A22A_PS2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_A22A UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Preselin/SPP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Presenilin_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:5664 UniProtKB/Swiss-Prot
NCBI Gene 5664 ENTREZGENE
OMIM 600759 OMIM
  606889 OMIM
  613697 OMIM
PANTHER PTHR10202 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Presenilin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA33856 PharmGKB
PRINTS PRESENILIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PRESENILIN2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART PSN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A218KGQ4_HUMAN UniProtKB/TrEMBL
  A0A7I2V2W1_HUMAN UniProtKB/TrEMBL
  A0A7I2V355_HUMAN UniProtKB/TrEMBL
  A0A7I2V3R9_HUMAN UniProtKB/TrEMBL
  A0A7I2V3Y8_HUMAN UniProtKB/TrEMBL
  A0A7I2V4D0_HUMAN UniProtKB/TrEMBL
  A0A7I2V4T4_HUMAN UniProtKB/TrEMBL
  A0A7I2V4Y6_HUMAN UniProtKB/TrEMBL
  A0A7I2V551_HUMAN UniProtKB/TrEMBL
  A0A7I2V5L1_HUMAN UniProtKB/TrEMBL
  A0A7I2V5Q3_HUMAN UniProtKB/TrEMBL
  A0A7I2V5S6_HUMAN UniProtKB/TrEMBL
  A0A7I2V5Y0_HUMAN UniProtKB/TrEMBL
  A0A7I2YQG9_HUMAN UniProtKB/TrEMBL
  B1AP22_HUMAN UniProtKB/TrEMBL
  E5RFW4_HUMAN UniProtKB/TrEMBL
  E5RG63_HUMAN UniProtKB/TrEMBL
  E5RHT1_HUMAN UniProtKB/TrEMBL
  E5RJM5_HUMAN UniProtKB/TrEMBL
  P49810 ENTREZGENE, UniProtKB/Swiss-Prot
  Q96P32 ENTREZGENE
UniProt Secondary A8K8D4 UniProtKB/Swiss-Prot
  B1AP21 UniProtKB/Swiss-Prot
  Q96P32 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2014-03-05 PSEN2  presenilin 2  PSEN2  presenilin 2 (Alzheimer disease 4)  Symbol and/or name change 5135510 APPROVED