PCSK9 (proprotein convertase subtilisin/kexin type 9) - Rat Genome Database

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Gene: PCSK9 (proprotein convertase subtilisin/kexin type 9) Homo sapiens
Analyze
Symbol: PCSK9
Name: proprotein convertase subtilisin/kexin type 9
RGD ID: 731023
HGNC Page HGNC:20001
Description: Enables several functions, including lipoprotein particle receptor binding activity; serine-type endopeptidase activity; and sodium channel inhibitor activity. Involved in several processes, including cholesterol homeostasis; low-density lipoprotein particle receptor catabolic process; and regulation of receptor-mediated endocytosis. Located in several cellular components, including endosome; lysosome; and perinuclear region of cytoplasm. Part of PCSK9-AnxA2 complex and PCSK9-LDLR complex. Implicated in familial hypercholesterolemia and hypobetalipoproteinemia.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: convertase subtilisin/kexin type 9 preproprotein; FH3; FHCL3; HCHOLA3; hypercholesterolemia, autosomal dominant 3; Hypercholesterolemia, familial, 3; LDLCQ1; NARC-1; NARC1; neural apoptosis regulated convertase 1; neural apoptosis-regulated convertase 1; PC9; proprotein convertase 9; subtilisin/kexin-like protease PC9
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38155,039,548 - 55,064,852 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl155,039,445 - 55,064,852 (+)EnsemblGRCh38hg38GRCh38
GRCh37155,505,221 - 55,530,525 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36155,277,808 - 55,303,111 (+)NCBINCBI36Build 36hg18NCBI36
Build 34155,217,240 - 55,242,544NCBI
Celera153,792,769 - 53,818,130 (+)NCBICelera
Cytogenetic Map1p32.3NCBI
HuRef153,618,200 - 53,643,557 (+)NCBIHuRef
CHM1_1155,621,314 - 55,646,685 (+)NCBICHM1_1
T2T-CHM13v2.0154,913,987 - 54,945,736 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-isolariciresinol  (EXP)
(-)-epigallocatechin 3-gallate  (EXP)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
1-(3-(trifluoromethyl)phenyl)piperazine  (ISO)
1-benzylpiperazine  (ISO)
1-chloro-2,4-dinitrobenzene  (EXP)
1-naphthyl isothiocyanate  (ISO)
17beta-estradiol  (EXP,ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',5,5'-tetrachlorobiphenyl  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (EXP)
2,4-dinitrotoluene  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (EXP)
6-propyl-2-thiouracil  (ISO)
acetaldehyde  (ISO)
acetamide  (ISO)
acetohydrazide  (ISO)
Actein  (ISO)
actinomycin D  (EXP)
aflatoxin B1  (EXP)
aldehydo-D-glucose  (ISO)
aldrin  (ISO)
all-trans-retinoic acid  (ISO)
amiodarone  (EXP)
arsenous acid  (EXP)
avobenzone  (EXP)
belinostat  (EXP)
benzalkonium chloride  (ISO)
benzo[a]pyrene  (EXP,ISO)
beta-lapachone  (EXP)
beta-naphthoflavone  (ISO)
bezafibrate  (EXP)
bis(2-ethylhexyl) phthalate  (EXP,ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
bromobenzene  (ISO)
butan-1-ol  (EXP)
Butylbenzyl phthalate  (ISO)
caffeine  (EXP,ISO)
carbamazepine  (EXP)
carbon nanotube  (EXP,ISO)
CGP 52608  (EXP)
chloroethene  (ISO)
chromium(6+)  (EXP)
ciguatoxin CTX1B  (ISO)
cisplatin  (ISO)
cobalt dichloride  (EXP)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) sulfate  (EXP,ISO)
curcumin  (ISO)
cyclosporin A  (EXP)
D-glucose  (ISO)
dexamethasone  (EXP)
diarsenic trioxide  (EXP)
dibutyl phthalate  (ISO)
diclofenac  (ISO)
diethyl phthalate  (ISO)
diisobutyl phthalate  (ISO)
diisononyl phthalate  (ISO)
dimethylarsinic acid  (ISO)
dorsomorphin  (EXP)
doxorubicin  (ISO)
endosulfan  (ISO)
epoxiconazole  (ISO)
ethanol  (ISO)
ezetimibe  (EXP)
fenofibrate  (EXP)
flusilazole  (ISO)
fluvastatin  (EXP)
fructose  (ISO)
fulvestrant  (EXP)
Ganoderic acid A  (EXP)
gemcitabine  (EXP)
genistein  (ISO)
glafenine  (ISO)
glucose  (ISO)
glutathione  (ISO)
glyphosate  (ISO)
herbicide  (ISO)
hydrazine  (ISO)
indometacin  (EXP)
ketoconazole  (ISO)
L-ascorbic acid  (EXP,ISO)
letrozole  (ISO)
lipopolysaccharide  (ISO)
manganese(II) chloride  (ISO)
mercury dibromide  (EXP)
mercury dichloride  (ISO)
methylarsonic acid  (ISO)
methylmercury chloride  (EXP,ISO)
mono(2-ethylhexyl) phthalate  (ISO)
N-methyl-4-phenylpyridinium  (ISO)
N-nitrosodiethylamine  (ISO)
N-Nitrosopyrrolidine  (EXP)
Nutlin-3  (EXP)
O-methyleugenol  (EXP)
orphenadrine  (ISO)
p-chloromercuribenzoic acid  (EXP)
paracetamol  (EXP,ISO)
PCB138  (ISO)
pentachlorophenol  (ISO)
perfluorononanoic acid  (EXP)
perfluorooctanoic acid  (EXP)
phenylmercury acetate  (EXP)
pioglitazone  (EXP,ISO)
pravastatin  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
quercetin  (EXP)
resveratrol  (EXP)
rotenone  (ISO)
SB 431542  (EXP)
senecionine  (ISO)
silicon dioxide  (EXP)
silver atom  (EXP)
silver(0)  (EXP)
simvastatin  (EXP)
sodium arsenate  (ISO)
sodium arsenite  (ISO)
spironolactone  (ISO)
sulindac sulfide  (EXP)
tamoxifen  (ISO)
testosterone  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
triphenyl phosphate  (ISO)
Triptolide  (ISO)
tris(2-butoxyethyl) phosphate  (EXP)
troglitazone  (EXP)
valproic acid  (EXP,ISO)
Yessotoxin  (EXP)
zaragozic acid A  (ISO)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

References

References - curated
# Reference Title Reference Citation
1. Mutations in PCSK9 cause autosomal dominant hypercholesterolemia. Abifadel M, etal., Nat Genet. 2003 Jun;34(2):154-6.
2. Sequence variations in PCSK9, low LDL, and protection against coronary heart disease. Cohen JC, etal., N Engl J Med. 2006 Mar 23;354(12):1264-72.
3. Pre-germinated brown rice extract ameliorates high-fat diet-induced metabolic syndrome. Hao CL, etal., J Food Biochem. 2019 Mar;43(3):e12769. doi: 10.1111/jfbc.12769. Epub 2019 Jan 13.
4. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
5. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
6. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
7. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
8. Mechanisms of disease: genetic causes of familial hypercholesterolemia. Soutar AK and Naoumova RP, Nat Clin Pract Cardiovasc Med. 2007 Apr;4(4):214-25.
9. Evidence for effect of mutant PCSK9 on apolipoprotein B secretion as the cause of unusually severe dominant hypercholesterolaemia. Sun XM, etal., Hum Mol Genet. 2005 May 1;14(9):1161-9. Epub 2005 Mar 16.
10. A mutation in PCSK9 causing autosomal-dominant hypercholesterolemia in a Utah pedigree. Timms KM, etal., Hum Genet. 2004 Mar;114(4):349-53. Epub 2004 Jan 15.
11. The c.43_44insCTG variation in PCSK9 is associated with low plasma LDL-cholesterol in a Caucasian population. Yue P, etal., Hum Mutat. 2006 May;27(5):460-6.
Additional References at PubMed
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PMID:34202378   PMID:34238141   PMID:34252181   PMID:34280453   PMID:34281247   PMID:34337724   PMID:34341879   PMID:34380558   PMID:34533801   PMID:34550777   PMID:34560758   PMID:34590679  
PMID:34601896   PMID:34606887   PMID:34652028   PMID:34681838   PMID:34739847   PMID:34756585   PMID:34758978   PMID:34780866   PMID:34809446   PMID:34876018   PMID:34884442   PMID:34887328  
PMID:34928185   PMID:34948399   PMID:34962050   PMID:34996457   PMID:35007650   PMID:35024053   PMID:35078374   PMID:35135698   PMID:35140212   PMID:35162992   PMID:35174858   PMID:35227181  
PMID:35292607   PMID:35339752   PMID:35354429   PMID:35412175   PMID:35436396   PMID:35454151   PMID:35454343   PMID:35467263   PMID:35498417   PMID:35501368   PMID:35502687   PMID:35512480  
PMID:35596184   PMID:35660019   PMID:35696571   PMID:35717446   PMID:35720337   PMID:35723066   PMID:35733117   PMID:35803966   PMID:35862195   PMID:35901214   PMID:35924517   PMID:36012389  
PMID:36067830   PMID:36123046   PMID:36142332   PMID:36176663   PMID:36203122   PMID:36207148   PMID:36242053   PMID:36261084   PMID:36285785   PMID:36344709   PMID:36346620   PMID:36361853  
PMID:36475702   PMID:36476440   PMID:36533764   PMID:36542369   PMID:36601873   PMID:36603351   PMID:36611859   PMID:36653091   PMID:36655117   PMID:36695028   PMID:36723951   PMID:36727585  
PMID:36768292   PMID:36834740   PMID:36911736   PMID:36929300   PMID:37010997   PMID:37019248   PMID:37055467   PMID:37165876   PMID:37249282   PMID:37290532   PMID:37365661   PMID:37406929  
PMID:37420045   PMID:37459623   PMID:37499571   PMID:37515197   PMID:37559246   PMID:37586604   PMID:37726433   PMID:37748207   PMID:37759784   PMID:37834124   PMID:37853441   PMID:37903942  
PMID:37904138   PMID:37957262   PMID:37989062   PMID:38154546   PMID:38272483   PMID:38383373   PMID:38402551   PMID:38532495   PMID:38538222   PMID:38568054   PMID:38663369   PMID:38734541  
PMID:38747931   PMID:38786080   PMID:38874786   PMID:38884343   PMID:38922860   PMID:38924434   PMID:38972879   PMID:38977244   PMID:39074621   PMID:39138259  


Genomics

Comparative Map Data
PCSK9
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38155,039,548 - 55,064,852 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl155,039,445 - 55,064,852 (+)EnsemblGRCh38hg38GRCh38
GRCh37155,505,221 - 55,530,525 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36155,277,808 - 55,303,111 (+)NCBINCBI36Build 36hg18NCBI36
Build 34155,217,240 - 55,242,544NCBI
Celera153,792,769 - 53,818,130 (+)NCBICelera
Cytogenetic Map1p32.3NCBI
HuRef153,618,200 - 53,643,557 (+)NCBIHuRef
CHM1_1155,621,314 - 55,646,685 (+)NCBICHM1_1
T2T-CHM13v2.0154,913,987 - 54,945,736 (+)NCBIT2T-CHM13v2.0
Pcsk9
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm394106,299,531 - 106,321,522 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl4106,299,526 - 106,321,526 (-)EnsemblGRCm39 Ensembl
GRCm384106,442,334 - 106,464,325 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl4106,442,329 - 106,464,329 (-)EnsemblGRCm38mm10GRCm38
MGSCv374106,114,939 - 106,136,930 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv364105,940,274 - 105,974,961 (-)NCBIMGSCv36mm8
Celera4104,803,009 - 104,824,874 (-)NCBICelera
Cytogenetic Map4C7NCBI
cM Map449.67NCBI
Pcsk9
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr85126,440,102 - 126,462,507 (-)NCBIGRCr8
mRatBN7.25121,211,278 - 121,233,688 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl5121,211,278 - 121,233,688 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx5123,824,322 - 123,846,721 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.05125,547,373 - 125,569,772 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.05125,598,631 - 125,621,028 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.05126,031,368 - 126,053,726 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl5126,031,368 - 126,053,726 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.05129,878,797 - 129,900,625 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.45127,501,476 - 127,524,289 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.15127,507,768 - 127,529,490 (-)NCBI
Celera5119,960,965 - 119,983,199 (-)NCBICelera
Cytogenetic Map5q34NCBI
Pcsk9
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554644,425,435 - 4,439,842 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554644,424,583 - 4,439,805 (-)NCBIChiLan1.0ChiLan1.0
PCSK9
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21171,754,941 - 171,787,297 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11170,895,635 - 170,927,961 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0154,323,036 - 54,355,397 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1155,911,016 - 55,943,404 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl155,911,016 - 55,936,456 (+)Ensemblpanpan1.1panPan2
PCSK9
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1554,197,211 - 54,210,724 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha554,264,679 - 54,280,339 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0554,383,361 - 54,399,016 (-)NCBIROS_Cfam_1.0
UMICH_Zoey_3.1554,380,525 - 54,396,181 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0554,270,491 - 54,282,704 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0554,658,929 - 54,672,888 (-)NCBIUU_Cfam_GSD_1.0
Pcsk9
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440505869,116,048 - 69,144,955 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365226,272,507 - 6,299,917 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365226,271,339 - 6,300,202 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PCSK9
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl6157,388,372 - 157,409,551 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.16157,388,370 - 157,409,620 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.26145,451,983 - 145,473,336 (-)NCBISscrofa10.2Sscrofa10.2susScr3
PCSK9
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12077,893,574 - 77,921,076 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2077,893,590 - 77,918,613 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603339,376,139 - 39,401,572 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Pcsk9
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248624,879,561 - 4,895,776 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248624,873,457 - 4,895,836 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PCSK9
1153 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_174936.4(PCSK9):c.1504-5_1504-4del microsatellite Cardiovascular phenotype [RCV002395410]|Familial hypercholesterolemia [RCV000776502]|Hypercholesterolemia, autosomal dominant, 3 [RCV000542573]|not provided [RCV003456412]|not specified [RCV001293574] Chr1:55059479..55059480 [GRCh38]
Chr1:55525152..55525153 [GRCh37]
Chr1:1p32.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_174936.4(PCSK9):c.-64C>T single nucleotide variant Hypercholesterolemia, autosomal dominant, 3 [RCV001093767]|Hypercholesterolemia, familial, 1 [RCV000030345]|Hypobetalipoproteinemia [RCV000309852]|not provided [RCV004714399] Chr1:55039774 [GRCh38]
Chr1:55039774..55039775 [GRCh38]
Chr1:55505447 [GRCh37]
Chr1:55505447..55505448 [GRCh37]
Chr1:1p32.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_174936.4(PCSK9):c.1503+67T>C single nucleotide variant Hypercholesterolemia, familial, 1 [RCV000030346]|not provided [RCV004713176] Chr1:55058714 [GRCh38]
Chr1:55524387 [GRCh37]
Chr1:1p32.3
benign
NM_174936.4(PCSK9):c.1504-16C>T single nucleotide variant Familial hypercholesterolemia [RCV000771160]|Hypercholesterolemia, autosomal dominant, 3 [RCV002054514]|Hypercholesterolemia, familial, 1 [RCV000030347]|not specified [RCV000252871] Chr1:55059470 [GRCh38]
Chr1:55525143 [GRCh37]
Chr1:1p32.3
benign
NM_174936.4(PCSK9):c.158C>T (p.Ala53Val) single nucleotide variant Cardiovascular phenotype [RCV002399345]|Familial hypercholesterolemia [RCV003148634]|Hypercholesterolemia, autosomal dominant, 3 [RCV000609972]|Hypercholesterolemia, familial, 1 [RCV000030348]|Hypobetalipoproteinemia [RCV000373308]|not provided [RCV001811217]|not specified [RCV000244074] Chr1:55039995 [GRCh38]
Chr1:55039995..55039996 [GRCh38]
Chr1:55505668 [GRCh37]
Chr1:55505668..55505669 [GRCh37]
Chr1:1p32.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_174936.4(PCSK9):c.2009G>A (p.Gly670Glu) single nucleotide variant Cardiovascular phenotype [RCV002415436]|Familial hypercholesterolemia [RCV003148635]|Hypercholesterolemia, autosomal dominant, 3 [RCV000612647]|Hypercholesterolemia, familial, 1 [RCV000030349]|Hypobetalipoproteinemia [RCV000364880]|not provided [RCV001811218]|not specified [RCV000252382] Chr1:55063514 [GRCh38]
Chr1:55063514..55063515 [GRCh38]
Chr1:55529187 [GRCh37]
Chr1:55529187..55529188 [GRCh37]
Chr1:1p32.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_174936.4(PCSK9):c.524-11G>A single nucleotide variant Familial hypercholesterolemia [RCV003148636]|Hypercholesterolemia, autosomal dominant, 3 [RCV000609330]|Hypercholesterolemia, familial, 1 [RCV000030350]|Hypobetalipoproteinemia [RCV000289127]|not provided [RCV004713177]|not specified [RCV000253452] Chr1:55052267 [GRCh38]
Chr1:55517940 [GRCh37]
Chr1:1p32.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_174936.4(PCSK9):c.658-7C>T single nucleotide variant Familial hypercholesterolemia [RCV003148637]|Hypercholesterolemia, autosomal dominant, 3 [RCV000604185]|Hypercholesterolemia, familial, 1 [RCV000030351]|Hypobetalipoproteinemia [RCV000300438]|Short fetal femur length [RCV002463432]|not provided [RCV001811219]|not specified [RCV000252912] Chr1:55052643 [GRCh38]
Chr1:55052643..55052644 [GRCh38]
Chr1:55518316 [GRCh37]
Chr1:55518316..55518317 [GRCh37]
Chr1:1p32.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_174936.4(PCSK9):c.381T>A (p.Ser127Arg) single nucleotide variant Hypercholesterolemia, autosomal dominant, 3 [RCV000003007]|Hypercholesterolemia, familial, 1 [RCV000505185] Chr1:55044016 [GRCh38]
Chr1:55509689 [GRCh37]
Chr1:1p32.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_174936.4(PCSK9):c.646T>C (p.Phe216Leu) single nucleotide variant Hypercholesterolemia, autosomal dominant, 3 [RCV000003008] Chr1:55052400 [GRCh38]
Chr1:55518073 [GRCh37]
Chr1:1p32.3
pathogenic
NM_174936.4(PCSK9):c.1120G>T (p.Asp374Tyr) single nucleotide variant Cardiovascular phenotype [RCV004018541]|Homozygous familial hypercholesterolemia [RCV004017221]|Hypercholesterolemia, autosomal dominant, 3 [RCV000003009]|Hypercholesterolemia, familial, 1 [RCV000505195] Chr1:55057454 [GRCh38]
Chr1:55523127 [GRCh37]
Chr1:1p32.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_174936.4(PCSK9):c.426C>G (p.Tyr142Ter) single nucleotide variant Cardiovascular phenotype [RCV004658956]|Familial hypercholesterolemia [RCV001191121]|Hypercholesterolemia, autosomal dominant, 3 [RCV001097394]|Low density lipoprotein cholesterol level quantitative trait locus 1 [RCV000003010]|not provided [RCV000588335]|not specified [RCV001731276] Chr1:55046549 [GRCh38]
Chr1:55512222 [GRCh37]
Chr1:1p32.3
pathogenic|association|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_174936.4(PCSK9):c.2037C>A (p.Cys679Ter) single nucleotide variant Cardiovascular phenotype [RCV004649062]|Familial hypercholesterolemia [RCV000771132]|Hypercholesterolemia, autosomal dominant, 3 [RCV000531428]|Hypocholesterolemia [RCV000508694]|Low density lipoprotein cholesterol level quantitative trait locus 1 [RCV000003011]|PCSK9-related disorder [RCV004734496]|not provided [RCV001508868]|not specified [RCV001731277] Chr1:55063542 [GRCh38]
Chr1:55529215 [GRCh37]
Chr1:1p32.3
pathogenic|association|benign|conflicting interpretations of pathogenicity|uncertain significance
NM_174936.4(PCSK9):c.137G>T (p.Arg46Leu) single nucleotide variant Cardiovascular phenotype [RCV002381236]|Familial hypercholesterolemia [RCV001523785]|Hypercholesterolemia, autosomal dominant, 3 [RCV000203182]|Hypercholesterolemia, familial, 1 [RCV000256313]|Hypobetalipoproteinemia [RCV001099060]|Hypocholesterolemia [RCV000508774]|Low density lipoprotein cholesterol level quantitative trait locus 1 [RCV000003012]|not provided [RCV000985896]|not specified [RCV000605465] Chr1:55039974 [GRCh38]
Chr1:55505647 [GRCh37]
Chr1:1p32.3
pathogenic|association|benign|likely benign|conflicting interpretations of pathogenicity
NM_174936.4(PCSK9):c.287GCC[1] (p.Arg97del) microsatellite Hypercholesterolemia, autosomal dominant, 3 [RCV003996076]|Low density lipoprotein cholesterol level quantitative trait locus 1 [RCV000003014] Chr1:55043920..55043922 [GRCh38]
Chr1:55509593..55509595 [GRCh37]
Chr1:1p32.3
association|likely benign
NM_174936.4(PCSK9):c.1149del (p.Ser383fs) deletion Familial hypercholesterolemia [RCV000774066] Chr1:55057483 [GRCh38]
Chr1:55523156 [GRCh37]
Chr1:1p32.3
likely benign
NM_174936.4(PCSK9):c.1850C>A (p.Ala617Asp) single nucleotide variant Cardiovascular phenotype [RCV002413780]|Familial hypercholesterolemia [RCV001185960]|Hypercholesterolemia, autosomal dominant, 3 [RCV004002762]|Hypercholesterolemia, familial, 1 [RCV000627171] Chr1:55061543 [GRCh38]
Chr1:55527216 [GRCh37]
Chr1:1p32.3
uncertain significance
NM_174936.4(PCSK9):c.1432G>A (p.Ala478Thr) single nucleotide variant Familial hypercholesterolemia [RCV001191339]|Hypercholesterolemia, autosomal dominant, 3 [RCV002060705]|Hypercholesterolemia, familial, 1 [RCV000627191]|PCSK9-related disorder [RCV004533298]|not specified [RCV004702209] Chr1:55058576 [GRCh38]
Chr1:55524249 [GRCh37]
Chr1:1p32.3
likely benign|uncertain significance
NM_174936.4(PCSK9):c.1827A>G (p.Lys609=) single nucleotide variant Familial hypercholesterolemia [RCV001185959]|Hypercholesterolemia, autosomal dominant, 3 [RCV000550509] Chr1:55061520 [GRCh38]
Chr1:55527193 [GRCh37]
Chr1:1p32.3
likely benign
NC_000001.11:g.(?_55043823)_(55044054_?)del deletion Hypercholesterolemia, autosomal dominant, 3 [RCV000549579] Chr1:55043823..55044054 [GRCh38]
Chr1:55509496..55509727 [GRCh37]
Chr1:1p32.3
uncertain significance
GRCh38/hg38 1p32.3-31.3(chr1:50222546-61618373)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051819]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051819]|See cases [RCV000051819] Chr1:50222546..61618373 [GRCh38]
Chr1:50688218..62084045 [GRCh37]
Chr1:50460805..61856633 [NCBI36]
Chr1:1p32.3-31.3
pathogenic
GRCh38/hg38 1p32.3-31.1(chr1:52595352-76767765)x3 copy number gain See cases [RCV000051822] Chr1:52595352..76767765 [GRCh38]
Chr1:53061024..77233450 [GRCh37]
Chr1:52833612..77006038 [NCBI36]
Chr1:1p32.3-31.1
pathogenic
GRCh38/hg38 1p32.3-31.3(chr1:53738212-61439648)x1 copy number loss See cases [RCV000053839] Chr1:53738212..61439648 [GRCh38]
Chr1:54203885..61905320 [GRCh37]
Chr1:53976473..61677908 [NCBI36]
Chr1:1p32.3-31.3
pathogenic
NM_174936.3(PCSK9):c.505G>A (p.Asp169Asn) single nucleotide variant Malignant melanoma [RCV000064832] Chr1:55046628 [GRCh38]
Chr1:55512301 [GRCh37]
Chr1:55284889 [NCBI36]
Chr1:1p32.3
not provided
NM_174936.4(PCSK9):c.637G>A (p.Gly213Arg) single nucleotide variant Familial hypercholesterolemia [RCV001804680]|Hypercholesterolemia, autosomal dominant, 3 [RCV004009106] Chr1:55052391 [GRCh38]
Chr1:55518064 [GRCh37]
Chr1:55290652 [NCBI36]
Chr1:1p32.3
uncertain significance|not provided
NM_174936.3(PCSK9):c.490C>T (p.Pro164Ser) single nucleotide variant Malignant melanoma [RCV000060220] Chr1:55046613 [GRCh38]
Chr1:55512286 [GRCh37]
Chr1:55284874 [NCBI36]
Chr1:1p32.3
not provided
NM_174936.4(PCSK9):c.169G>A (p.Glu57Lys) single nucleotide variant Cardiovascular phenotype [RCV002397343]|Familial hypercholesterolemia [RCV000771580]|Hypercholesterolemia, autosomal dominant, 3 [RCV000861885]|Hypercholesterolemia, familial, 1 [RCV000660745]|not provided [RCV001560960] Chr1:55040006 [GRCh38]
Chr1:55505679 [GRCh37]
Chr1:1p32.3
benign|likely benign|uncertain significance
NM_174936.4(PCSK9):c.314G>A (p.Arg105Gln) single nucleotide variant Cardiovascular phenotype [RCV002325334]|Familial hypercholesterolemia [RCV001191371]|Hypercholesterolemia, autosomal dominant, 3 [RCV001868181]|Hypercholesterolemia, familial, 1 [RCV000660750]|not provided [RCV003478390] Chr1:55043949 [GRCh38]
Chr1:55509622 [GRCh37]
Chr1:1p32.3
uncertain significance
NM_174936.4(PCSK9):c.493C>T (p.Arg165Trp) single nucleotide variant Cardiovascular phenotype [RCV002334227]|Familial hypercholesterolemia [RCV001191335]|Hypercholesterolemia, autosomal dominant, 3 [RCV001861722]|Hypercholesterolemia, familial, 1 [RCV000660753] Chr1:55046616 [GRCh38]
Chr1:55512289 [GRCh37]
Chr1:1p32.3
uncertain significance
NM_174936.4(PCSK9):c.1792G>A (p.Ala598Thr) single nucleotide variant Cardiovascular phenotype [RCV003372799]|Familial hypercholesterolemia [RCV001186470]|Hypercholesterolemia, autosomal dominant, 3 [RCV001101466]|Hypercholesterolemia, familial, 1 [RCV000660746]|Hypobetalipoproteinemia [RCV001101465] Chr1:55061485 [GRCh38]
Chr1:55527158 [GRCh37]
Chr1:1p32.3
likely benign|uncertain significance
NM_174936.4(PCSK9):c.1864-13C>T single nucleotide variant Familial hypercholesterolemia [RCV000776083]|Hypercholesterolemia, autosomal dominant, 3 [RCV001095999]|Hypercholesterolemia, familial, 1 [RCV000660747]|Hypobetalipoproteinemia [RCV001095998]|not provided [RCV001561911] Chr1:55063356 [GRCh38]
Chr1:55529029 [GRCh37]
Chr1:1p32.3
benign|likely benign|uncertain significance
NM_174936.4(PCSK9):c.494G>A (p.Arg165Gln) single nucleotide variant Cardiovascular phenotype [RCV002334228]|Familial hypercholesterolemia [RCV001191372]|Hypercholesterolemia, autosomal dominant, 3 [RCV001302666]|Hypercholesterolemia, familial, 1 [RCV000660754] Chr1:55046617 [GRCh38]
Chr1:55512290 [GRCh37]
Chr1:1p32.3
uncertain significance
NM_174936.4(PCSK9):c.43_44insCTGCTG (p.Leu15delinsProAlaVal) insertion none provided [RCV001284915] Chr1:55039880..55039881 [GRCh38]
Chr1:55505553..55505554 [GRCh37]
Chr1:1p32.3
likely benign
NM_174936.4(PCSK9):c.400-7T>C single nucleotide variant Familial hypercholesterolemia [RCV001180539]|Hypercholesterolemia, autosomal dominant, 3 [RCV002558959] Chr1:55046516 [GRCh38]
Chr1:55512189 [GRCh37]
Chr1:1p32.3
likely benign
NM_174936.4(PCSK9):c.1333C>T (p.Pro445Ser) single nucleotide variant Familial hypercholesterolemia [RCV001180541] Chr1:55058188 [GRCh38]
Chr1:55523861 [GRCh37]
Chr1:1p32.3
uncertain significance
NM_174936.4(PCSK9):c.449_450del (p.Phe150fs) deletion Familial hypercholesterolemia [RCV001181330]|Hypercholesterolemia, familial, 1 [RCV000172974] Chr1:55046571..55046572 [GRCh38]
Chr1:55512245..55512246 [GRCh37]
Chr1:1p32.3
likely benign
NM_174936.4(PCSK9):c.610G>A (p.Asp204Asn) single nucleotide variant Familial hypercholesterolemia [RCV001186034]|Hypercholesterolemia, autosomal dominant, 3 [RCV001208295]|Hypercholesterolemia, familial, 1 [RCV000172975] Chr1:55052364 [GRCh38]
Chr1:55518037 [GRCh37]
Chr1:1p32.3
likely pathogenic|uncertain significance
GRCh38/hg38 1p32.3-31.3(chr1:53627272-64248854)x1 copy number loss See cases [RCV000139470] Chr1:53627272..64248854 [GRCh38]
Chr1:54092945..64714537 [GRCh37]
Chr1:53865533..64487125 [NCBI36]
Chr1:1p32.3-31.3
pathogenic
GRCh38/hg38 1p32.3-31.3(chr1:52787503-67339873)x3 copy number gain See cases [RCV000141758] Chr1:52787503..67339873 [GRCh38]
Chr1:53253175..67805556 [GRCh37]
Chr1:53025763..67578144 [NCBI36]
Chr1:1p32.3-31.3
likely pathogenic
NM_174936.4(PCSK9):c.644G>A (p.Arg215His) single nucleotide variant Familial hypercholesterolemia [RCV001526127]|Homozygous familial hypercholesterolemia [RCV004017461]|Hypercholesterolemia, autosomal dominant, 3 [RCV000412537]|Hypercholesterolemia, familial, 1 [RCV000505198]|not provided [RCV000182575] Chr1:55052398 [GRCh38]
Chr1:55518071 [GRCh37]
Chr1:1p32.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_174936.4(PCSK9):c.1405C>T (p.Arg469Trp) single nucleotide variant Cardiovascular phenotype [RCV002390460]|Familial hypercholesterolemia [RCV000776243]|Hypercholesterolemia, autosomal dominant, 3 [RCV000228895]|Hypercholesterolemia, familial, 1 [RCV000408878]|Hypobetalipoproteinemia [RCV001095907]|PCSK9-related disorder [RCV004528959]|not provided [RCV003477647]|not specified [RCV000182576] Chr1:55058549 [GRCh38]
Chr1:55524222 [GRCh37]
Chr1:1p32.3
pathogenic|likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_174936.4(PCSK9):c.1486C>T (p.Arg496Trp) single nucleotide variant Cardiovascular phenotype [RCV002390461]|Familial hypercholesterolemia [RCV001182214]|Hypercholesterolemia, autosomal dominant, 3 [RCV000231738]|Hypercholesterolemia, familial, 1 [RCV000505260]|Hypobetalipoproteinemia [RCV001097684]|See cases [RCV004584369]|not provided [RCV000766559]|not specified [RCV000455706] Chr1:55058630 [GRCh38]
Chr1:55524303 [GRCh37]
Chr1:1p32.3
pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_174936.4(PCSK9):c.1420G>A (p.Val474Ile) single nucleotide variant Cardiovascular phenotype [RCV002390459]|Familial hypercholesterolemia [RCV003148666]|Hypercholesterolemia, autosomal dominant, 3 [RCV000605201]|Hypercholesterolemia, familial, 1 [RCV000256256]|Hypobetalipoproteinemia [RCV000330942]|not provided [RCV001812174]|not specified [RCV000182572] Chr1:55058564 [GRCh38]
Chr1:55524237 [GRCh37]
Chr1:1p32.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_174936.4(PCSK9):c.1380A>G (p.Val460=) single nucleotide variant Cardiovascular phenotype [RCV002381593]|Familial hypercholesterolemia [RCV003148667]|Hypercholesterolemia, autosomal dominant, 3 [RCV000600317]|Hypercholesterolemia, familial, 1 [RCV000256294]|Hypobetalipoproteinemia [RCV000273530]|not provided [RCV001812176]|not specified [RCV000182574] Chr1:55058524 [GRCh38]
Chr1:55524197 [GRCh37]
Chr1:1p32.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_174936.4(PCSK9):c.1652A>T (p.His551Leu) single nucleotide variant Familial hypercholesterolemia [RCV001180739] Chr1:55059634 [GRCh38]
Chr1:55525307 [GRCh37]
Chr1:1p32.3
uncertain significance
NM_174936.4(PCSK9):c.996+8del deletion Familial hypercholesterolemia [RCV000775018]|Familial hypobetalipoproteinemia [