PROS1 (protein S) - Rat Genome Database

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Gene: PROS1 (protein S) Homo sapiens
Analyze
Symbol: PROS1
Name: protein S
RGD ID: 1342781
HGNC Page HGNC
Description: Predicted to enable endopeptidase inhibitor activity. Predicted to be involved in blood coagulation; fibrinolysis; and negative regulation of endopeptidase activity. Located in extracellular space. Implicated in autosomal dominant thrombophilia due to protein S deficiency; autosomal recessive thrombophilia due to protein S deficiency; cerebral infarction; and protein S deficiency.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: PROS; protein Sa; PS21; PS22; PS23; PS24; PS25; PSA; THPH5; THPH6; vitamin K-dependent plasma protein S; vitamin K-dependent protein S
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: PROS2P  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl393,873,051 - 93,980,003 (-)EnsemblGRCh38hg38GRCh38
GRCh38393,873,051 - 93,973,896 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37393,591,895 - 93,692,740 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36395,074,647 - 95,175,395 (-)NCBINCBI36hg18NCBI36
Build 34395,074,646 - 95,175,395NCBI
Celera391,974,425 - 92,076,408 (-)NCBI
Cytogenetic Map3q11.1NCBI
HuRef390,954,621 - 91,055,633 (-)NCBIHuRef
CHM1_1393,558,922 - 93,656,016 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
1,2-dimethylhydrazine  (ISO)
1-naphthyl isothiocyanate  (EXP)
17alpha-ethynylestradiol  (EXP)
17beta-estradiol  (EXP,ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,3',4,4',5-Pentachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4-dinitrotoluene  (ISO)
2,6-dinitrotoluene  (ISO)
2-methoxyethanol  (ISO)
3-chloropropane-1,2-diol  (ISO)
5-aza-2'-deoxycytidine  (EXP)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
acrolein  (EXP)
all-trans-retinoic acid  (EXP,ISO)
alpha-pinene  (EXP)
ammonium chloride  (ISO)
amphibole asbestos  (ISO)
aristolochic acid  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
butanal  (EXP)
cadmium dichloride  (ISO)
carbon nanotube  (ISO)
cisplatin  (EXP)
clofibrate  (ISO)
cobalt atom  (EXP)
copper(II) sulfate  (EXP)
cyclosporin A  (EXP,ISO)
DDT  (ISO)
deoxynivalenol  (EXP)
desogestrel  (EXP)
dextran sulfate  (ISO)
dibenz[a,h]anthracene  (ISO)
diclofenac  (ISO)
dicrotophos  (EXP)
dienogest  (EXP)
diuron  (ISO)
dopamine  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
endosulfan  (ISO)
entinostat  (EXP)
ethanol  (ISO)
fenoldopam  (ISO)
fipronil  (ISO)
flutamide  (ISO)
folic acid  (EXP,ISO)
genistein  (EXP)
gestodene  (EXP)
glafenine  (ISO)
isotretinoin  (EXP)
L-ascorbic acid  (ISO)
levonorgestrel  (EXP)
lipopolysaccharide  (ISO)
manganese(II) chloride  (ISO)
methapyrilene  (ISO)
methotrexate  (EXP)
N-methyl-4-phenylpyridinium  (ISO)
N-nitrosodimethylamine  (ISO)
nickel atom  (EXP)
nickel sulfate  (EXP)
norgestimate  (EXP)
oxaliplatin  (ISO)
ozone  (EXP)
paracetamol  (EXP)
perfluorooctanoic acid  (EXP)
phenethyl isothiocyanate  (EXP)
phenobarbital  (EXP)
phenylmercury acetate  (EXP)
pirinixic acid  (ISO)
potassium chromate  (EXP)
pregnenolone 16alpha-carbonitrile  (ISO)
quercetin  (EXP)
raloxifene  (EXP)
resveratrol  (EXP)
rotenone  (ISO)
SB 431542  (EXP)
silicon dioxide  (EXP,ISO)
Soman  (ISO)
sunitinib  (EXP)
tamoxifen  (EXP)
temozolomide  (EXP)
tert-butyl hydroperoxide  (EXP)
testosterone enanthate  (EXP)
tetrachloromethane  (ISO)
thapsigargin  (EXP)
titanium dioxide  (ISO)
topotecan  (ISO)
Tributyltin oxide  (ISO)
trichostatin A  (EXP)
Tungsten carbide  (EXP)
tunicamycin  (EXP)
valproic acid  (EXP)
vancomycin  (ISO)
vitamin K  (EXP)
warfarin  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
1. Alhenc-Gelas M, etal., Thromb Haemost. 2016 Feb 29;115(3):570-9. doi: 10.1160/TH15-05-0391. Epub 2015 Oct 15.
2. Andersen BD, etal., Thromb Haemost. 2001 Dec;86(6):1392-9.
3. Beauchamp NJ, etal., Thromb Haemost. 1998 Jun;79(6):1086-91.
4. Bouwens EA, etal., J Thromb Haemost. 2013 Jun;11 Suppl 1:242-53. doi: 10.1111/jth.12247.
5. Burstyn-Cohen T, etal., J Clin Invest. 2009 Oct;119(10):2942-53. doi: 10.1172/JCI39325.
6. Duchemin J, etal., Blood. 1995 Nov 1;86(9):3436-43.
7. Duebgen S, etal., Am J Clin Pathol. 2012 Feb;137(2):178-84. doi: 10.1309/AJCP40UXNBTXGKUX.
8. Esmon CT, Chest. 2003 Sep;124(3 Suppl):26S-32S.
9. Fujii K, etal., J Thromb Haemost. 2006 Dec;4(12):2607-15. Epub 2006 Sep 22.
10. GOA_HUMAN data from the GO Consortium
11. Knoll B, etal., Thromb Res. 2001 Jul 1;103(1):3-8.
12. Leung TW, etal., Neurology. 2010 Dec 14;75(24):2185-9. doi: 10.1212/WNL.0b013e3182020379.
13. OMIM Disease Annotation Pipeline
14. Pintao MC, etal., Hum Genet. 2009 Sep;126(3):449-56. doi: 10.1007/s00439-009-0687-9. Epub 2009 May 23.
15. Pipeline to import KEGG annotations from KEGG into RGD
16. Rezende SM, etal., Blood. 2004 Feb 15;103(4):1192-201. Epub 2003 Aug 7.
17. RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
18. RGD automated import pipeline for gene-chemical interactions
19. RGD automated import pipeline for human HPO-to-gene-to-disease annotations
20. Simmonds RE, etal., Ann Intern Med. 1998 Jan 1;128(1):8-14.
21. ten Kate MK, etal., Haematologica. 2006 Aug;91(8):1151-2.
22. Zhong F, etal., J Am Soc Nephrol. 2018 Mar 6. pii: ASN.2017030234. doi: 10.1681/ASN.2017030234.
Additional References at PubMed
PMID:214811   PMID:1531628   PMID:1534488   PMID:1615482   PMID:1833851   PMID:2143091   PMID:2148110   PMID:2148111   PMID:2148112   PMID:2148653   PMID:2461936   PMID:2526663  
PMID:2820795   PMID:2940598   PMID:2944113   PMID:2952034   PMID:2961379   PMID:2974696   PMID:3467362   PMID:6239102   PMID:6454142   PMID:7620160   PMID:8146182   PMID:8298131  
PMID:8422460   PMID:8428962   PMID:8616098   PMID:8641360   PMID:8889548   PMID:9252393   PMID:9628846   PMID:10447256   PMID:10593904   PMID:10744423   PMID:11467946   PMID:11686322  
PMID:11843280   PMID:11848449   PMID:11858485   PMID:11927129   PMID:12193728   PMID:12193972   PMID:12413608   PMID:12447359   PMID:12477932   PMID:12490286   PMID:12492479   PMID:12871408  
PMID:14515184   PMID:14607961   PMID:14630798   PMID:14652633   PMID:14718574   PMID:15096498   PMID:15175796   PMID:15292065   PMID:15456488   PMID:15489334   PMID:15670064   PMID:15748239  
PMID:15893367   PMID:15978566   PMID:16100035   PMID:16105054   PMID:16229836   PMID:16335952   PMID:16344560   PMID:16363235   PMID:16461766   PMID:16488980   PMID:16493484   PMID:16607073  
PMID:16672217   PMID:16720551   PMID:16840717   PMID:16868938   PMID:16935856   PMID:16961607   PMID:16961608   PMID:16969634   PMID:17157360   PMID:17393035   PMID:17597997   PMID:17849042  
PMID:17890957   PMID:17938802   PMID:17958742   PMID:18029348   PMID:18045239   PMID:18067603   PMID:18250462   PMID:18278202   PMID:18322254   PMID:18419747   PMID:18424440   PMID:18433462  
PMID:18435454   PMID:18485091   PMID:18680534   PMID:18768782   PMID:18779332   PMID:18784085   PMID:18824642   PMID:18841302   PMID:18922854   PMID:18945960   PMID:18954896   PMID:19004141  
PMID:19128822   PMID:19244162   PMID:19404554   PMID:19437370   PMID:19492164   PMID:19630792   PMID:19679847   PMID:19744001   PMID:19815836   PMID:19874463   PMID:19878975   PMID:19924026  
PMID:20002538   PMID:20022358   PMID:20088940   PMID:20200160   PMID:20308596   PMID:20348395   PMID:20378562   PMID:20398916   PMID:20452482   PMID:20484936   PMID:20492471   PMID:20514628  
PMID:20539904   PMID:20673868   PMID:20693287   PMID:20705334   PMID:20811787   PMID:20880255   PMID:20881312   PMID:20926118   PMID:21190511   PMID:21384080   PMID:21486865   PMID:21508412  
PMID:21569220   PMID:21811774   PMID:21873635   PMID:21979881   PMID:21988832   PMID:22104477   PMID:22268729   PMID:22273984   PMID:22318644   PMID:22371115   PMID:22516433   PMID:22627591  
PMID:22627709   PMID:22908226   PMID:23065156   PMID:23074276   PMID:23238804   PMID:23370801   PMID:23402259   PMID:23407778   PMID:23473639   PMID:23497733   PMID:23533145   PMID:23580615  
PMID:23721692   PMID:23789915   PMID:23813890   PMID:23850380   PMID:23892573   PMID:23958677   PMID:24014240   PMID:24226152   PMID:24233490   PMID:24331211   PMID:24740810   PMID:24992033  
PMID:25399514   PMID:25716664   PMID:25868595   PMID:25879167   PMID:25997409   PMID:26186194   PMID:26186226   PMID:26354831   PMID:26358807   PMID:26871637   PMID:27172994   PMID:27181595  
PMID:27207541   PMID:27342144   PMID:27345772   PMID:27748013   PMID:27840905   PMID:27846449   PMID:28088608   PMID:28118606   PMID:28174134   PMID:28211163   PMID:28214760   PMID:28284075  
PMID:28374852   PMID:28514442   PMID:28607330   PMID:29304470   PMID:29321366   PMID:29419409   PMID:29455618   PMID:29748776   PMID:29883906   PMID:30630120   PMID:30669159   PMID:31364267  
PMID:31511453   PMID:31743498   PMID:32145080   PMID:32276277   PMID:32426810   PMID:32653888   PMID:32814053   PMID:32945517   PMID:32964666   PMID:33402927   PMID:33812436   PMID:33845483  


Genomics

Comparative Map Data
PROS1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl393,873,051 - 93,980,003 (-)EnsemblGRCh38hg38GRCh38
GRCh38393,873,051 - 93,973,896 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37393,591,895 - 93,692,740 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36395,074,647 - 95,175,395 (-)NCBINCBI36hg18NCBI36
Build 34395,074,646 - 95,175,395NCBI
Celera391,974,425 - 92,076,408 (-)NCBI
Cytogenetic Map3q11.1NCBI
HuRef390,954,621 - 91,055,633 (-)NCBIHuRef
CHM1_1393,558,922 - 93,656,016 (-)NCBICHM1_1
Pros1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391662,674,670 - 62,749,709 (+)NCBIGRCm39mm39
GRCm39 Ensembl1662,674,670 - 62,749,709 (+)Ensembl
GRCm381662,854,307 - 62,929,346 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1662,854,307 - 62,929,346 (+)EnsemblGRCm38mm10GRCm38
MGSCv371662,854,160 - 62,929,166 (+)NCBIGRCm37mm9NCBIm37
MGSCv361662,796,624 - 62,871,347 (+)NCBImm8
Celera1663,162,946 - 63,237,718 (+)NCBICelera
Cytogenetic Map16C1.3NCBI
Pros1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.211230,597 - 311,288 (+)NCBImRatBN7.2
Rnor_6.0 Ensembl71,206,648 - 1,288,134 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.071,206,648 - 1,288,140 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.071,199,864 - 1,279,998 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Celera13237,157 - 317,730 (+)NCBICelera
Cytogenetic Map7q11NCBI
Pros1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554073,535,388 - 3,565,058 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554073,514,900 - 3,566,165 (+)NCBIChiLan1.0ChiLan1.0
PROS1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1397,615,734 - 97,719,057 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl397,615,734 - 97,718,756 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0390,934,641 - 91,039,059 (-)NCBIMhudiblu_PPA_v0panPan3
PROS1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1331,628,074 - 1,691,441 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl331,628,105 - 1,692,058 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha331,807,559 - 1,871,177 (-)NCBI
ROS_Cfam_1.0331,727,844 - 1,791,314 (-)NCBI
UMICH_Zoey_3.1331,637,294 - 1,700,492 (-)NCBI
UNSW_CanFamBas_1.0331,671,507 - 1,735,141 (-)NCBI
UU_Cfam_GSD_1.0331,896,104 - 1,960,217 (-)NCBI
Pros1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405602155,405,321 - 155,496,524 (+)NCBI
SpeTri2.0NW_00493666618,303 - 110,357 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PROS1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl13165,911,366 - 165,999,811 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.113165,915,298 - 165,999,118 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
PROS1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12286,728,089 - 86,840,413 (+)NCBI
ChlSab1.1 Ensembl2286,728,339 - 86,840,356 (+)Ensembl
Vero_WHO_p1.0NW_02366604179,820,400 - 79,954,563 (-)NCBI
Pros1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247896,621,803 - 6,704,033 (-)NCBI

Position Markers
D3S3999  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37393,592,625 - 93,592,965UniSTSGRCh37
GRCh37390,251,002 - 90,251,342UniSTSGRCh37
Build 36390,333,692 - 90,334,032RGDNCBI36
Celera391,975,169 - 91,975,509RGD
Cytogenetic Map3p21-cenUniSTS
Cytogenetic Map3q11.2UniSTS
HuRef390,264,528 - 90,264,868UniSTS
HuRef390,955,365 - 90,955,705UniSTS
TNG Radiation Hybrid Map355478.0UniSTS
Stanford-G3 RH Map34153.0UniSTS
Whitehead-YAC Contig Map3 UniSTS
NCBI RH Map3696.9UniSTS
GeneMap99-G3 RH Map34122.0UniSTS
GDB:181221  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37393,592,550 - 93,592,912UniSTSGRCh37
Build 36395,075,240 - 95,075,602RGDNCBI36
Celera391,975,094 - 91,975,456RGD
Cytogenetic Map3q11.2UniSTS
HuRef390,955,290 - 90,955,652UniSTS
PROS1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37393,611,811 - 93,611,966UniSTSGRCh37
GRCh37393,603,586 - 93,603,740UniSTSGRCh37
Build 36395,094,501 - 95,094,656RGDNCBI36
Celera391,994,358 - 91,994,513RGD
Celera391,986,132 - 91,986,286UniSTS
HuRef390,966,324 - 90,966,478UniSTS
HuRef390,974,550 - 90,974,705UniSTS
PROS1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37393,611,811 - 93,611,966UniSTSGRCh37
GRCh37393,603,586 - 93,603,740UniSTSGRCh37
Build 36395,094,501 - 95,094,656RGDNCBI36
Celera391,994,358 - 91,994,513RGD
Celera391,986,132 - 91,986,286UniSTS
HuRef390,966,324 - 90,966,478UniSTS
HuRef390,974,550 - 90,974,705UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1036
Count of miRNA genes:497
Interacting mature miRNAs:537
Transcripts:ENST00000348974, ENST00000394236, ENST00000407433, ENST00000472684, ENST00000488658
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

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

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


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
High
Medium 1939 2070 1447 578 414 455 3394 1240 1007 316 975 1470 129 1202 2007 2
Low 477 631 270 43 708 9 960 955 2702 102 477 121 41 1 2 781 2
Below cutoff 14 282 7 453 2 2 18 1 4 18 4 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_009813 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000313 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001314077 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB083386 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB083387 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB083388 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB083389 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB083390 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB083391 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB083392 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB083393 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB083394 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB083395 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB083396 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB083687 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB083688 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB083689 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB084900 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB084901 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB084902 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB084903 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB084904 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB087994 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB087995 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB162156 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC117474 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC144562 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC245469 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH002948 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH002976 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI139337 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK292994 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303895 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY308744 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY605182 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC015801 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE677834 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG702968 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU688598 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA408604 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB076220 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB275740 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ382334 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ453481 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ453483 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ453484 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ902689 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ902690 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ902693 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178283 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178284 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M14338 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M15036 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M23599 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M57307 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M57309 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M57311 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M57313 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M57315 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S81775 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S81777 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X12892 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y00692 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000348974   ⟹   ENSP00000330021
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl393,873,132 - 93,973,833 (-)Ensembl
RefSeq Acc Id: ENST00000394236   ⟹   ENSP00000377783
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl393,873,051 - 93,973,896 (-)Ensembl
RefSeq Acc Id: ENST00000407433   ⟹   ENSP00000385794
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl393,873,191 - 93,973,897 (-)Ensembl
RefSeq Acc Id: ENST00000472684   ⟹   ENSP00000419616
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl393,905,821 - 93,973,637 (-)Ensembl
RefSeq Acc Id: ENST00000488658
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl393,906,040 - 93,911,157 (-)Ensembl
RefSeq Acc Id: ENST00000647936   ⟹   ENSP00000496822
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl393,873,136 - 93,973,888 (-)Ensembl
RefSeq Acc Id: ENST00000648381
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl393,873,109 - 93,958,754 (-)Ensembl
RefSeq Acc Id: ENST00000648721
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl393,968,492 - 93,979,884 (-)Ensembl
RefSeq Acc Id: ENST00000648853   ⟹   ENSP00000497262
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl393,873,124 - 93,980,003 (-)Ensembl
RefSeq Acc Id: ENST00000649103   ⟹   ENSP00000497962
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl393,877,051 - 93,973,728 (-)Ensembl
RefSeq Acc Id: ENST00000649585   ⟹   ENSP00000498163
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl393,877,003 - 93,886,413 (-)Ensembl
RefSeq Acc Id: ENST00000650591   ⟹   ENSP00000497376
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl393,873,124 - 93,973,933 (-)Ensembl
RefSeq Acc Id: NM_000313   ⟹   NP_000304
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38393,873,051 - 93,973,896 (-)NCBI
GRCh37393,591,881 - 93,692,934 (-)ENTREZGENE
Build 36395,074,647 - 95,175,395 (-)NCBI Archive
HuRef390,954,621 - 91,055,633 (-)ENTREZGENE
CHM1_1393,558,922 - 93,656,016 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001314077   ⟹   NP_001301006
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38393,873,051 - 93,973,896 (-)NCBI
CHM1_1393,558,922 - 93,656,007 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_000304 (Get FASTA)   NCBI Sequence Viewer  
  NP_001301006 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA36479 (Get FASTA)   NCBI Sequence Viewer  
  AAA60180 (Get FASTA)   NCBI Sequence Viewer  
  AAA60181 (Get FASTA)   NCBI Sequence Viewer  
  AAA60357 (Get FASTA)   NCBI Sequence Viewer  
  AAD14374 (Get FASTA)   NCBI Sequence Viewer  
  AAD14375 (Get FASTA)   NCBI Sequence Viewer  
  AAH15801 (Get FASTA)   NCBI Sequence Viewer  
  AAO37893 (Get FASTA)   NCBI Sequence Viewer  
  AAP45054 (Get FASTA)   NCBI Sequence Viewer  
  AAT37717 (Get FASTA)   NCBI Sequence Viewer  
  ABD38713 (Get FASTA)   NCBI Sequence Viewer  
  ABD96173 (Get FASTA)   NCBI Sequence Viewer  
  ABD96174 (Get FASTA)   NCBI Sequence Viewer  
  ABD96175 (Get FASTA)   NCBI Sequence Viewer  
  ABI93127 (Get FASTA)   NCBI Sequence Viewer  
  ABI93128 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33741 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33742 (Get FASTA)   NCBI Sequence Viewer  
  BAC21163 (Get FASTA)   NCBI Sequence Viewer  
  BAC21164 (Get FASTA)   NCBI Sequence Viewer  
  BAC54134 (Get FASTA)   NCBI Sequence Viewer  
  BAC54135 (Get FASTA)   NCBI Sequence Viewer  
  BAC54136 (Get FASTA)   NCBI Sequence Viewer  
  BAC54137 (Get FASTA)   NCBI Sequence Viewer  
  BAC54138 (Get FASTA)   NCBI Sequence Viewer  
  BAC54139 (Get FASTA)   NCBI Sequence Viewer  
  BAC54140 (Get FASTA)   NCBI Sequence Viewer  
  BAC54141 (Get FASTA)   NCBI Sequence Viewer  
  BAC54142 (Get FASTA)   NCBI Sequence Viewer  
  BAC54143 (Get FASTA)   NCBI Sequence Viewer  
  BAC54144 (Get FASTA)   NCBI Sequence Viewer  
  BAC54253 (Get FASTA)   NCBI Sequence Viewer  
  BAC54254 (Get FASTA)   NCBI Sequence Viewer  
  BAC54255 (Get FASTA)   NCBI Sequence Viewer  
  BAC54256 (Get FASTA)   NCBI Sequence Viewer  
  BAC54257 (Get FASTA)   NCBI Sequence Viewer  
  BAC55115 (Get FASTA)   NCBI Sequence Viewer  
  BAD36740 (Get FASTA)   NCBI Sequence Viewer  
  BAF85683 (Get FASTA)   NCBI Sequence Viewer  
  BAG64828 (Get FASTA)   NCBI Sequence Viewer  
  CAA31383 (Get FASTA)   NCBI Sequence Viewer  
  CAA68687 (Get FASTA)   NCBI Sequence Viewer  
  CAA68688 (Get FASTA)   NCBI Sequence Viewer  
  EAW79903 (Get FASTA)   NCBI Sequence Viewer  
  EAW79904 (Get FASTA)   NCBI Sequence Viewer  
  EAW79905 (Get FASTA)   NCBI Sequence Viewer  
  P07225 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_000304   ⟸   NM_000313
- Peptide Label: isoform 2 preproprotein
- UniProtKB: P07225 (UniProtKB/Swiss-Prot),   A0A0S2Z4K3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001301006   ⟸   NM_001314077
- Peptide Label: isoform 1 precursor
- UniProtKB: P07225 (UniProtKB/Swiss-Prot),   A0A0S2Z4L3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000497262   ⟸   ENST00000648853
RefSeq Acc Id: ENSP00000498163   ⟸   ENST00000649585
RefSeq Acc Id: ENSP00000497962   ⟸   ENST00000649103
RefSeq Acc Id: ENSP00000330021   ⟸   ENST00000348974
RefSeq Acc Id: ENSP00000497376   ⟸   ENST00000650591
RefSeq Acc Id: ENSP00000385794   ⟸   ENST00000407433
RefSeq Acc Id: ENSP00000419616   ⟸   ENST00000472684
RefSeq Acc Id: ENSP00000377783   ⟸   ENST00000394236
RefSeq Acc Id: ENSP00000496822   ⟸   ENST00000647936
Protein Domains
EGF-like   EGF_CA   Gla   LAM_G_DOMAIN   Laminin G-like

Promoters
RGD ID:6865046
Promoter ID:EPDNEW_H5688
Type:initiation region
Name:PROS1_1
Description:protein S
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H5689  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38393,973,896 - 93,973,956EPDNEW
RGD ID:6865048
Promoter ID:EPDNEW_H5689
Type:initiation region
Name:PROS1_2
Description:protein S
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H5688  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38393,974,087 - 93,974,147EPDNEW
RGD ID:6801454
Promoter ID:HG_KWN:45619
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   Jurkat,   K562,   NB4
Transcripts:OTTHUMT00000317762,   OTTHUMT00000317764
Position:
Human AssemblyChrPosition (strand)Source
Build 36395,175,209 - 95,175,709 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000313.3(PROS1):c.1713A>G (p.Gln571=) single nucleotide variant Thrombophilia due to protein S deficiency, autosomal recessive [RCV000543526] Chr3:93877123 [GRCh38]
Chr3:93595967 [GRCh37]
Chr3:3q11.1
benign
NM_000313.3(PROS1):c.1063C>T (p.Arg355Cys) single nucleotide variant Thrombophilia due to protein S deficiency, autosomal dominant [RCV000022724]|Thrombophilia due to protein S deficiency, autosomal recessive [RCV001232043] Chr3:93893025 [GRCh38]
Chr3:93611869 [GRCh37]
Chr3:3q11.1
pathogenic
PROS1, 1-BP INS, 146A insertion Thrombophilia due to protein S deficiency, autosomal recessive [RCV000022725] Chr3:3q11.2 pathogenic
PROS1, ARG410TER variation Thrombophilia due to protein S deficiency, autosomal recessive [RCV000022726] Chr3:3q11.2 pathogenic
NM_000313.3(PROS1):c.701A>G (p.Tyr234Cys) single nucleotide variant Thrombophilia due to protein S deficiency, autosomal recessive [RCV000022727] Chr3:93900830 [GRCh38]
Chr3:93619674 [GRCh37]
Chr3:3q11.1
pathogenic
NM_000313.3(PROS1):c.1501T>C (p.Ser501Pro) single nucleotide variant Protein S Heerlen [RCV000014244]|Thrombophilia due to protein S deficiency, autosomal dominant [RCV000755688]|Thrombophilia due to protein S deficiency, autosomal recessive [RCV000205145]|not provided [RCV001358591]|not specified [RCV000246742] Chr3:93879306 [GRCh38]
Chr3:93598150 [GRCh37]
Chr3:3q11.1
pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000313.3(PROS1):c.773A>G (p.Asn258Ser) single nucleotide variant Thrombophilia due to protein S deficiency, autosomal dominant [RCV000014245] Chr3:93898524 [GRCh38]
Chr3:93617368 [GRCh37]
Chr3:3q11.1
pathogenic
NM_000313.3(PROS1):c.586A>G (p.Lys196Glu) single nucleotide variant Thrombophilia due to protein S deficiency, autosomal dominant [RCV000014246]|Thrombophilia due to protein S deficiency, autosomal recessive [RCV001055823] Chr3:93905799 [GRCh38]
Chr3:93624643 [GRCh37]
Chr3:3q11.1
pathogenic
PROS1, IVS10DS, G-A, +5 single nucleotide variant Thrombophilia due to protein S deficiency, autosomal dominant [RCV000014247] Chr3:3q11.2 pathogenic
NM_000313.3(PROS1):c.2031A>T (p.Ter677Tyr) single nucleotide variant Thrombophilia due to protein S deficiency, autosomal dominant [RCV000014248] Chr3:93874245 [GRCh38]
Chr3:93593089 [GRCh37]
Chr3:3q11.1
pathogenic
PROS1, IVS11AS, A-G, -9 single nucleotide variant Thrombophilia due to protein S deficiency, autosomal dominant [RCV000014249] Chr3:3q11.2 pathogenic
NM_000313.3(PROS1):c.835C>T (p.Gln279Ter) single nucleotide variant Thrombophilia due to protein S deficiency, autosomal dominant [RCV000014250] Chr3:93898462 [GRCh38]
Chr3:93617306 [GRCh37]
Chr3:3q11.1
pathogenic
NM_000313.3(PROS1):c.1681C>G (p.Arg561Gly) single nucleotide variant Protein S deficiency disease [RCV000851712]|Thrombophilia due to protein S deficiency, autosomal dominant [RCV000014251] Chr3:93877155 [GRCh38]
Chr3:93595999 [GRCh37]
Chr3:3q11.1
pathogenic|uncertain significance
GRCh38/hg38 3q11.1-21.1(chr3:93886671-123216683)x1 copy number loss See cases [RCV000051543] Chr3:93886671..123216683 [GRCh38]
Chr3:93605515..122935530 [GRCh37]
Chr3:95088205..124418220 [NCBI36]
Chr3:3q11.1-21.1
pathogenic
NM_000313.3(PROS1):c.1405G>A (p.Glu469Lys) single nucleotide variant Malignant melanoma [RCV000066203] Chr3:93884815 [GRCh38]
Chr3:93603659 [GRCh37]
Chr3:95086349 [NCBI36]
Chr3:3q11.1
not provided
NM_000313.3(PROS1):c.1528G>A (p.Val510Met) single nucleotide variant Thrombophilia due to protein S deficiency, autosomal dominant [RCV000148749]|Thrombophilia due to protein S deficiency, autosomal recessive [RCV000458043] Chr3:93879279 [GRCh38]
Chr3:93598123 [GRCh37]
Chr3:3q11.1
risk factor|benign|likely benign
NM_000313.3(PROS1):c.1762A>G (p.Thr588Ala) single nucleotide variant Thrombophilia due to protein S deficiency, autosomal dominant [RCV000148750]|Thrombophilia due to protein S deficiency, autosomal recessive [RCV000197760] Chr3:93877074 [GRCh38]
Chr3:93595918 [GRCh37]
Chr3:3q11.1
pathogenic|benign|uncertain significance
NM_000313.3(PROS1):c.946C>T (p.Arg316Cys) single nucleotide variant Thrombophilia due to protein S deficiency, autosomal dominant [RCV000148751] Chr3:93896595 [GRCh38]
Chr3:93615439 [GRCh37]
Chr3:3q11.1
uncertain significance
NM_000313.3(PROS1):c.698G>A (p.Arg233Lys) single nucleotide variant Finnish congenital nephrotic syndrome [RCV001258303]|Protein S deficiency disease [RCV000851862]|Thrombophilia due to protein S deficiency, autosomal dominant [RCV000148752]|Thrombophilia due to protein S deficiency, autosomal recessive [RCV000470283] Chr3:93900833 [GRCh38]
Chr3:93619677 [GRCh37]
Chr3:3q11.1
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000313.3(PROS1):c.431C>A (p.Thr144Asn) single nucleotide variant Thrombophilia due to protein S deficiency, autosomal dominant [RCV000148753]|Thrombophilia due to protein S deficiency, autosomal recessive [RCV001511688]|not provided [RCV000998113] Chr3:93906059 [GRCh38]
Chr3:93624903 [GRCh37]
Chr3:3q11.1
benign|uncertain significance
NM_000313.3(PROS1):c.1907A>G (p.Tyr636Cys) single nucleotide variant Thrombophilia due to protein S deficiency, autosomal dominant [RCV000148754] Chr3:93874369 [GRCh38]
Chr3:93593213 [GRCh37]
Chr3:3q11.1
uncertain significance
NM_000313.3(PROS1):c.1747A>C (p.Asn583His) single nucleotide variant Thrombophilia due to protein S deficiency, autosomal dominant [RCV000148755] Chr3:93877089 [GRCh38]
Chr3:93595933 [GRCh37]
Chr3:3q11.1
uncertain significance
NM_000313.3(PROS1):c.1594A>G (p.Thr532Ala) single nucleotide variant Thrombophilia due to protein S deficiency, autosomal dominant [RCV000148756] Chr3:93879213 [GRCh38]
Chr3:93598057 [GRCh37]
Chr3:3q11.1
uncertain significance
NM_000313.3(PROS1):c.1331C>T (p.Pro444Leu) single nucleotide variant Thrombophilia due to protein S deficiency, autosomal dominant [RCV000148757]|not provided [RCV001356591] Chr3:93884889 [GRCh38]
Chr3:93603733 [GRCh37]
Chr3:3q11.1
uncertain significance
NM_000313.3(PROS1):c.1095T>G (p.Asn365Lys) single nucleotide variant Thrombophilia due to protein S deficiency, autosomal dominant [RCV000148758]|Thrombophilia due to protein S deficiency, autosomal recessive [RCV001511519]|not provided [RCV000860566] Chr3:93892993 [GRCh38]
Chr3:93611837 [GRCh37]
Chr3:3q11.1
benign|uncertain significance
NM_000313.3(PROS1):c.676T>A (p.Cys226Ser) single nucleotide variant Thrombophilia due to protein S deficiency, autosomal dominant [RCV000148759] Chr3:93900855 [GRCh38]
Chr3:93619699 [GRCh37]
Chr3:3q11.1
uncertain significance
NM_000313.3(PROS1):c.284G>A (p.Gly95Glu) single nucleotide variant Abnormal bleeding [RCV001270492]|Protein S deficiency disease [RCV000851762]|Thrombophilia due to protein S deficiency, autosomal dominant [RCV000148760]|Thrombophilia due to protein S deficiency, autosomal recessive [RCV001036311]|not provided [RCV000998114] Chr3:93910681 [GRCh38]
Chr3:93629525 [GRCh37]
Chr3:3q11.1
likely pathogenic|uncertain significance
GRCh38/hg38 3q11.1-11.2(chr3:93856441-94708419)x3 copy number gain See cases [RCV000133764] Chr3:93856441..94708419 [GRCh38]
Chr3:93575285..94427263 [GRCh37]
Chr3:95057975..95909953 [NCBI36]
Chr3:3q11.1-11.2
uncertain significance
GRCh38/hg38 3q11.1-13.31(chr3:93819623-116887056)x1 copy number loss See cases [RCV000135320] Chr3:93819623..116887056 [GRCh38]
Chr3:93538467..116605903 [GRCh37]
Chr3:95021157..118088593 [NCBI36]
Chr3:3q11.1-13.31
pathogenic
GRCh38/hg38 3q11.1-11.2(chr3:93808831-94785647)x3 copy number gain See cases [RCV000138051] Chr3:93808831..94785647 [GRCh38]
Chr3:93527675..94504491 [GRCh37]
Chr3:95010365..95987181 [NCBI36]
Chr3:3q11.1-11.2
uncertain significance
GRCh38/hg38 3q11.1-11.2(chr3:93856445-94039745)x3 copy number gain See cases [RCV000139163] Chr3:93856445..94039745 [GRCh38]
Chr3:93575289..93758589 [GRCh37]
Chr3:95057979..95241279 [NCBI36]
Chr3:3q11.1-11.2
likely benign
GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3 copy number gain See cases [RCV000142340] Chr3:93800620..145695381 [GRCh38]
Chr3:93519464..145413168 [GRCh37]
Chr3:95002154..146895858 [NCBI36]
Chr3:3q11.1-24
pathogenic
GRCh38/hg38 3q11.1(chr3:93800621-93955268)x3 copy number gain See cases [RCV000142257] Chr3:93800621..93955268 [GRCh38]
Chr3:93519465..93674112 [GRCh37]
Chr3:95002155..95156802 [NCBI36]
Chr3:3q11.1
uncertain significance
GRCh38/hg38 3q11.1-11.2(chr3:93856445-94026979)x3 copy number gain See cases [RCV000142620] Chr3:93856445..94026979 [GRCh38]
Chr3:93575289..93745823 [GRCh37]
Chr3:95057979..95228513 [NCBI36]
Chr3:3q11.1-11.2
uncertain significance
GRCh38/hg38 3q11.1-13.11(chr3:93819623-103888749)x3 copy number gain See cases [RCV000143259] Chr3:93819623..103888749 [GRCh38]
Chr3:93538467..103607593 [GRCh37]
Chr3:95021157..105090283 [NCBI36]
Chr3:3q11.1-13.11
likely pathogenic|uncertain significance
GRCh38/hg38 3q11.1-11.2(chr3:93800620-94792824)x3 copy number gain See cases [RCV000143780] Chr3:93800620..94792824 [GRCh38]
Chr3:93519464..94511668 [GRCh37]
Chr3:95002154..95994358 [NCBI36]
Chr3:3q11.1-11.2
uncertain significance
NM_000313.4(PROS1):c.728-1G>A single nucleotide variant Thrombophilia due to protein S deficiency, autosomal dominant [RCV000149896] Chr3:93898570 [GRCh38]
Chr3:93617414 [GRCh37]
Chr3:3q11.1
likely pathogenic
NM_000313.3(PROS1):c.-60G>C single nucleotide variant Thrombophilia due to protein S deficiency, autosomal dominant [RCV000260932] Chr3:93973809 [GRCh38]
Chr3:93692653 [GRCh37]
Chr3:3q11.1
uncertain significance
NM_000313.3(PROS1):c.1247C>T (p.Pro416Leu) single nucleotide variant Thrombophilia due to protein S deficiency, autosomal recessive [RCV000195892] Chr3:93886412 [GRCh38]
Chr3:93605256 [GRCh37]
Chr3:3q11.1
uncertain significance
NM_000313.3(PROS1):c.967delinsGG (p.Phe323fs) indel Thrombophilia due to protein S deficiency, autosomal recessive [RCV000197344] Chr3:93893121 [GRCh38]
Chr3:93611965 [GRCh37]
Chr3:3q11.1
pathogenic|likely pathogenic
NM_000313.3(PROS1):c.233C>T (p.Thr78Met) single nucleotide variant Deep venous thrombosis [RCV000851741]|Protein S deficiency disease [RCV000851742]|Thrombophilia due to protein S deficiency, autosomal recessive [RCV000197958] Chr3:93927251 [GRCh38]
Chr3:93646095 [GRCh37]
Chr3:3q11.1
likely pathogenic|uncertain significance
NM_000313.3(PROS1):c.1183A>G (p.Ile395Val) single nucleotide variant Thrombophilia due to protein S deficiency, autosomal recessive [RCV000199445] Chr3:93886476 [GRCh38]
Chr3:93605320 [GRCh37]
Chr3:3q11.1
uncertain significance
NM_000313.3(PROS1):c.76+7A>G single nucleotide variant Protein S deficiency disease [RCV000851870]|Thrombophilia due to protein S deficiency, autosomal dominant [RCV000319582]|Thrombophilia due to protein S deficiency, autosomal recessive [RCV000199709] Chr3:93973667 [GRCh38]
Chr3:93692511 [GRCh37]
Chr3:3q11.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000313.4(PROS1):c.1064G>A (p.Arg355His) single nucleotide variant Thrombophilia due to protein S deficiency, autosomal recessive [RCV001229183] Chr3:93893024 [GRCh38]
Chr3:93611868 [GRCh37]
Chr3:3q11.1
likely pathogenic
NM_000313.3(PROS1):c.1681C>T (p.Arg561Trp) single nucleotide variant Thrombophilia due to protein S deficiency, autosomal recessive [RCV000206188] Chr3:93877155 [GRCh38]
Chr3:93595999 [GRCh37]
Chr3:3q11.1
uncertain significance
NM_000313.3(PROS1):c.1816G>A (p.Val606Ile) single nucleotide variant Thrombophilia due to protein S deficiency, autosomal dominant [RCV001146141]|Thrombophilia due to protein S deficiency, autosomal recessive [RCV000206212]|not provided [RCV000998108] Chr3:93877020 [GRCh38]
Chr3:93595864 [GRCh37]
Chr3:3q11.1
uncertain significance
NM_000313.3(PROS1):c.677G>A (p.Cys226Tyr) single nucleotide variant Thrombophilia due to protein S deficiency, autosomal recessive [RCV000546586] Chr3:93900854 [GRCh38]
Chr3:93619698 [GRCh37]
Chr3:3q11.1
uncertain significance
NM_000313.3(PROS1):c.*783C>T single nucleotide variant Thrombophilia due to protein S deficiency, autosomal dominant [RCV000280446] Chr3:93873462 [GRCh38]
Chr3:93592306 [GRCh37]
Chr3:3q11.1
uncertain significance
NM_000313.3(PROS1):c.1323+8T>G single nucleotide variant Thrombophilia due to protein S deficiency, autosomal dominant [RCV000282537] Chr3:93886328 [GRCh38]
Chr3:93605172 [GRCh37]
Chr3:3q11.1
uncertain significance
NM_000313.3(PROS1):c.2001A>G (p.Pro667=) single nucleotide variant Thrombophilia due to protein S deficiency, autosomal dominant [RCV000264596]|Thrombophilia due to protein S deficiency, autosomal recessive [RCV000860064]|not specified [RCV000251284] Chr3:93874275 [GRCh38]
Chr3:93593119 [GRCh37]
Chr3:3q11.1
benign|likely benign
GRCh37/hg19 3q11.1(chr3:93592858-93747377)x3 copy number gain See cases [RCV000240571] Chr3:93592858..93747377 [GRCh37]
Chr3:3q11.1
uncertain significance
GRCh37/hg19 3q11.1(chr3:93617407-93747377)x3 copy number gain See cases [RCV000240304] Chr3:93617407..93747377 [GRCh37]
Chr3:3q11.1
uncertain significance
NM_000313.3(PROS1):c.*221del deletion Thrombophilia due to protein S deficiency, autosomal dominant [RCV000272115] Chr3:93874024 [GRCh38]
Chr3:93592868 [GRCh37]
Chr3:3q11.1
uncertain significance
NM_000313.3(PROS1):c.-62T>G single nucleotide variant Thrombophilia due to protein S deficiency, autosomal dominant [RCV000332451] Chr3:93973811 [GRCh38]
Chr3:93692655 [GRCh37]
Chr3:3q11.1
likely benign|uncertain significance
NM_000313.3(PROS1):c.1377A>G (p.Gly459=) single nucleotide variant Thrombophilia due to protein S deficiency, autosomal dominant [RCV000374450]|Thrombophilia due to protein S deficiency, autosomal recessive [RCV000650165] Chr3:93884843 [GRCh38]
Chr3:93603687 [GRCh37]
Chr3:3q11.1
benign|uncertain significance
NM_000313.3(PROS1):c.*693G>A single nucleotide variant Thrombophilia due to protein S deficiency, autosomal dominant [RCV000398044] Chr3:93873552 [GRCh38]
Chr3:93592396 [GRCh37]
Chr3:3q11.1
uncertain significance
NM_000313.3(PROS1):c.-43G>A single nucleotide variant Thrombophilia due to protein S deficiency, autosomal dominant [RCV000353456] Chr3:93973792 [GRCh38]
Chr3:93692636 [GRCh37]
Chr3:3q11.1
uncertain significance
NM_000313.3(PROS1):c.1032C>T (p.Ile344=) single nucleotide variant Thrombophilia due to protein S deficiency, autosomal dominant [RCV000316523]|Thrombophilia due to protein S deficiency, autosomal recessive [RCV000650162] Chr3:93893056 [GRCh38]
Chr3:93611900 [GRCh37]
Chr3:3q11.1
benign|likely benign
NM_000313.3(PROS1):c.234G>A (p.Thr78=) single nucleotide variant Thrombophilia due to protein S deficiency, autosomal dominant [RCV000301891] Chr3:93927250 [GRCh38]
Chr3:93646094 [GRCh37]
Chr3:3q11.1
uncertain significance
NM_000313.3(PROS1):c.*422G>T single nucleotide variant Thrombophilia due to protein S deficiency, autosomal dominant [RCV000400750] Chr3:93873823 [GRCh38]
Chr3:93592667 [GRCh37]
Chr3:3q11.1
uncertain significance
NM_000313.3(PROS1):c.119G>T (p.Arg40Leu) single nucleotide variant Protein S deficiency disease [RCV000851668]|Thrombophilia due to protein S deficiency, autosomal dominant [RCV000358997]|Thrombophilia due to protein S deficiency, autosomal recessive [RCV000554713]|not provided [RCV001507630] Chr3:93927365 [GRCh38]
Chr3:93646209 [GRCh37]
Chr3:3q11.1
benign|likely benign|uncertain significance
NM_000313.3(PROS1):c.684C>T (p.Cys228=) single nucleotide variant Thrombophilia due to protein S deficiency, autosomal dominant [RCV000290013]|Thrombophilia due to protein S deficiency, autosomal recessive [RCV001523327] Chr3:93900847 [GRCh38]
Chr3:93619691 [GRCh37]
Chr3:3q11.1
benign|uncertain significance
NM_000313.3(PROS1):c.503A>G (p.Asn168Ser) single nucleotide variant Thrombophilia due to protein S deficiency, autosomal dominant [RCV000359916]|not provided [RCV000998112] Chr3:93905882 [GRCh38]
Chr3:93624726 [GRCh37]
Chr3:3q11.1
uncertain significance
NM_000313.3(PROS1):c.1494T>C (p.Asn498=) single nucleotide variant Thrombophilia due to protein S deficiency, autosomal dominant [RCV000322125]|Thrombophilia due to protein S deficiency, autosomal recessive [RCV000863104] Chr3:93879313 [GRCh38]
Chr3:93598157 [GRCh37]
Chr3:3q11.1
benign|likely benign|uncertain significance
NM_000313.3(PROS1):c.*155T>A single nucleotide variant Thrombophilia due to protein S deficiency, autosomal dominant [RCV000363128] Chr3:93874090 [GRCh38]
Chr3:93592934 [GRCh37]
Chr3:3q11.1
uncertain significance
NM_000313.3(PROS1):c.-135C>T single nucleotide variant Thrombophilia due to protein S deficiency, autosomal dominant [RCV000292774] Chr3:93973884 [GRCh38]
Chr3:93692728 [GRCh37]
Chr3:3q11.1
uncertain significance
NM_000313.3(PROS1):c.585T>C (p.Asn195=) single nucleotide variant Thrombophilia due to protein S deficiency, autosomal dominant [RCV000307474]|Thrombophilia due to protein S deficiency, autosomal recessive [RCV001392567]|not provided [RCV001092354] Chr3:93905800 [GRCh38]
Chr3:93624644 [GRCh37]
Chr3:3q11.1
likely benign|uncertain significance
NM_000313.3(PROS1):c.601+12A>G single nucleotide variant Thrombophilia due to protein S deficiency, autosomal dominant [RCV000347134] Chr3:93905772 [GRCh38]
Chr3:93624616 [GRCh37]
Chr3:3q11.1
uncertain significance
NM_000313.3(PROS1):c.*301A>G single nucleotide variant Thrombophilia due to protein S deficiency, autosomal dominant [RCV000368797] Chr3:93873944 [GRCh38]
Chr3:93592788 [GRCh37]
Chr3:3q11.1
uncertain significance
NM_000313.3(PROS1):c.*197C>T single nucleotide variant Thrombophilia due to protein S deficiency, autosomal dominant [RCV000310852] Chr3:93874048 [GRCh38]
Chr3:93592892 [GRCh37]
Chr3:3q11.1
likely benign
NM_000313.3(PROS1):c.710A>C (p.Lys237Thr) single nucleotide variant Thrombophilia due to protein S deficiency, autosomal dominant [RCV000348518] Chr3:93900821 [GRCh38]
Chr3:93619665 [GRCh37]
Chr3:3q11.1
uncertain significance
NM_000313.3(PROS1):c.*370G>A single nucleotide variant Thrombophilia due to protein S deficiency, autosomal dominant [RCV000311808] Chr3:93873875 [GRCh38]
Chr3:93592719 [GRCh37]
Chr3:3q11.1
uncertain significance
NM_000313.3(PROS1):c.*686G>A single nucleotide variant Thrombophilia due to protein S deficiency, autosomal dominant [RCV000298148] Chr3:93873559 [GRCh38]
Chr3:93592403 [GRCh37]
Chr3:3q11.1
uncertain significance
NM_000313.3(PROS1):c.*520A>C single nucleotide variant Thrombophilia due to protein S deficiency, autosomal dominant [RCV000351607] Chr3:93873725 [GRCh38]
Chr3:93592569 [GRCh37]
Chr3:3q11.1
benign|likely benign
NM_000313.3(PROS1):c.1021G>A (p.Ala341Thr) single nucleotide variant Thrombophilia due to protein S deficiency, autosomal dominant [RCV000373432]|Thrombophilia due to protein S deficiency, autosomal recessive [RCV000863328] Chr3:93893067 [GRCh38]
Chr3:93611911 [GRCh37]
Chr3:3q11.1
benign|uncertain significance
NM_000313.3(PROS1):c.*119T>C single nucleotide variant Thrombophilia due to protein S deficiency, autosomal dominant [RCV000270946] Chr3:93874126 [GRCh38]
Chr3:93592970 [GRCh37]
Chr3:3q11.1
uncertain significance
NM_000313.3(PROS1):c.111T>C (p.Val37=) single nucleotide variant Thrombophilia due to protein S deficiency, autosomal dominant [RCV000261890] Chr3:93927373 [GRCh38]
Chr3:93646217 [GRCh37]
Chr3:3q11.1
uncertain significance
NM_000313.3(PROS1):c.2003C>T (p.Ser668Leu) single nucleotide variant Thrombophilia due to protein S deficiency, autosomal dominant [RCV000361545] Chr3:93874273 [GRCh38]
Chr3:93593117 [GRCh37]
Chr3:3q11.1
uncertain significance
NM_000313.3(PROS1):c.-261C>T single nucleotide variant Thrombophilia due to protein S deficiency, autosomal dominant [RCV000331411] Chr3:93974010 [GRCh38]
Chr3:93692854 [GRCh37]
Chr3:3q11.1
uncertain significance
NM_000313.3(PROS1):c.1445G>A (p.Gly482Asp) single nucleotide variant not provided [RCV000520653] Chr3:93884775 [GRCh38]
Chr3:93603619 [GRCh37]
Chr3:3q11.1
uncertain significance
NM_000313.3(PROS1):c.805G>A (p.Gly269Arg) single nucleotide variant Thrombophilia due to protein S deficiency, autosomal dominant [RCV000295890] Chr3:93898492 [GRCh38]
Chr3:93617336 [GRCh37]
Chr3:3q11.1
uncertain significance
NM_000313.3(PROS1):c.*714T>C single nucleotide variant Thrombophilia due to protein S deficiency, autosomal dominant [RCV000337794] Chr3:93873531 [GRCh38]
Chr3:93592375 [GRCh37]
Chr3:3q11.1
uncertain significance
NM_000313.3(PROS1):c.-116C>T single nucleotide variant Thrombophilia due to protein S deficiency, autosomal dominant [RCV000389393] Chr3:93973865 [GRCh38]
Chr3:93692709 [GRCh37]
Chr3:3q11.1
uncertain significance
NM_000313.3(PROS1):c.*86T>C single nucleotide variant Thrombophilia due to protein S deficiency, autosomal dominant [RCV000323203] Chr3:93874159 [GRCh38]
Chr3:93593003 [GRCh37]
Chr3:3q11.1
uncertain significance
NM_000313.3(PROS1):c.*1167_*1170del deletion Thrombophilia due to protein S deficiency, autosomal dominant [RCV000339124] Chr3:93873075..93873078 [GRCh38]
Chr3:93591919..93591922 [GRCh37]
Chr3:3q11.1
uncertain significance
NM_000313.3(PROS1):c.*1139C>A single nucleotide variant Thrombophilia due to protein S deficiency, autosomal dominant [RCV000377400] Chr3:93873106 [GRCh38]
Chr3:93591950 [GRCh37]
Chr3:3q11.1
uncertain significance
NM_000313.3(PROS1):c.1351C>T (p.Arg451Ter) single nucleotide variant Protein S deficiency disease [RCV000851685]|Thrombophilia due to protein S deficiency, autosomal recessive [RCV001204662]|not provided [RCV000599381] Chr3:93884869 [GRCh38]
Chr3:93603713 [GRCh37]
Chr3:3q11.1
pathogenic|likely pathogenic
NM_000313.3(PROS1):c.1204G>T (p.Glu402Ter) single nucleotide variant not provided [RCV000627292] Chr3:93886455 [GRCh38]
Chr3:93605299 [GRCh37]
Chr3:3q11.1
pathogenic
NM_000313.3(PROS1):c.1991dup (p.His664fs) duplication Thrombophilia due to protein S deficiency, autosomal recessive [RCV000558347] Chr3:93874284..93874285 [GRCh38]
Chr3:93593128..93593129 [GRCh37]
Chr3:3q11.1
uncertain significance
GRCh37/hg19 3q11.1-11.2(chr3:93519464-94500476)x3 copy number gain See cases [RCV000446167] Chr3:93519464..94500476 [GRCh37]
Chr3:3q11.1-11.2
uncertain significance
GRCh37/hg19 3q11.1(chr3:93519464-93743920)x3 copy number gain See cases [RCV000448101] Chr3:93519464..93743920 [GRCh37]
Chr3:3q11.1
uncertain significance
NM_000313.3(PROS1):c.204C>G (p.Ala68=) single nucleotide variant Thrombophilia due to protein S deficiency, autosomal recessive [RCV000470207] Chr3:93927280 [GRCh38]
Chr3:93646124 [GRCh37]
Chr3:3q11.1
likely benign
NC_000003.12:g.(?_93879163)_(93879314_?)del deletion Thrombophilia due to protein S deficiency, autosomal recessive [RCV000470628] Chr3:93879163..93879314 [GRCh38]
Chr3:93598007..93598158 [GRCh37]
Chr3:3q11.1
pathogenic
NM_000313.3(PROS1):c.1902C>T (p.Ala634=) single nucleotide variant Thrombophilia due to protein S deficiency, autosomal recessive [RCV001488349]|not provided [RCV000463639] Chr3:93874374 [GRCh38]
Chr3:93593218 [GRCh37]
Chr3:3q11.1
likely benign
NM_000313.3(PROS1):c.149A>C (p.Lys50Thr) single nucleotide variant Thrombophilia due to protein S deficiency, autosomal recessive [RCV000461718] Chr3:93927335 [GRCh38]
Chr3:93646179 [GRCh37]
Chr3:3q11.1
uncertain significance
GRCh37/hg19 3q11.1(chr3:93519464-93600241)x3 copy number gain See cases [RCV000511562] Chr3:93519464..93600241 [GRCh37]
Chr3:3q11.1
likely benign
NM_000313.3(PROS1):c.1156-1G>A single nucleotide variant not provided [RCV000493409] Chr3:93886504 [GRCh38]
Chr3:93605348 [GRCh37]
Chr3:3q11.1
pathogenic
NM_000313.3(PROS1):c.1644+2_1644+3insTT insertion Thrombophilia due to protein S deficiency, autosomal recessive [RCV000533163] Chr3:93879160..93879161 [GRCh38]
Chr3:93598004..93598005 [GRCh37]
Chr3:3q11.1
uncertain significance
NM_000313.3(PROS1):c.234+5G>A single nucleotide variant Thrombophilia due to protein S deficiency, autosomal recessive [RCV001087235]|not provided [RCV000515099] Chr3:93927245 [GRCh38]
Chr3:93646089 [GRCh37]
Chr3:3q11.1
benign|conflicting interpretations of pathogenicity|uncertain significance
NC_000003.12:g.(?_93874239)_(94053268_?)del deletion Thrombophilia due to protein S deficiency, autosomal recessive [RCV000540397] Chr3:93874239..94053268 [GRCh38]
Chr3:93593083..93772112 [GRCh37]
Chr3:3q11.1-11.2
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 copy number gain See cases [RCV000511055] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) copy number gain See cases [RCV000512358] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29
pathogenic
NM_000313.3(PROS1):c.227C>T (p.Pro76Leu) single nucleotide variant Thrombophilia due to protein S deficiency, autosomal dominant [RCV001144370]|Thrombophilia due to protein S deficiency, autosomal recessive [RCV001084203]|not provided [RCV000650163] Chr3:93927257 [GRCh38]
Chr3:93646101 [GRCh37]
Chr3:3q11.1
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000313.3(PROS1):c.1506T>C (p.Ser502=) single nucleotide variant Thrombophilia due to protein S deficiency, autosomal recessive [RCV000650164] Chr3:93879301 [GRCh38]
Chr3:93598145 [GRCh37]
Chr3:3q11.1
likely benign
NM_000313.3(PROS1):c.496A>C (p.Asn166His) single nucleotide variant Inborn genetic diseases [RCV000624097] Chr3:93905889 [GRCh38]
Chr3:93624733 [GRCh37]
Chr3:3q11.1
uncertain significance
GRCh37/hg19 3q11.1(chr3:93519464-93767476)x3 copy number gain not provided [RCV000682284] Chr3:93519464..93767476 [GRCh37]
Chr3:3q11.1
uncertain significance
NM_000313.3(PROS1):c.1454A>C (p.Tyr485Ser) single nucleotide variant Protein S deficiency disease [RCV000852032]|Thrombophilia due to protein S deficiency, autosomal recessive [RCV000698684] Chr3:93884766 [GRCh38]
Chr3:93603610 [GRCh37]
Chr3:3q11.1
uncertain significance
NM_000313.3(PROS1):c.2018C>A (p.Thr673Lys) single nucleotide variant Thrombophilia due to protein S deficiency, autosomal recessive [RCV000704946] Chr3:93874258 [GRCh38]
Chr3:93593102 [GRCh37]
Chr3:3q11.1
uncertain significance
NM_000313.3(PROS1):c.1998T>A (p.Cys666Ter) single nucleotide variant Thrombophilia due to protein S deficiency, autosomal recessive [RCV000688177] Chr3:93874278 [GRCh38]
Chr3:93593122 [GRCh37]
Chr3:3q11.1
likely pathogenic
NM_000313.3(PROS1):c.77-1G>C single nucleotide variant Thrombophilia due to protein S deficiency, autosomal dominant [RCV001335248]|Thrombophilia due to protein S deficiency, autosomal recessive [RCV000705342] Chr3:93927408 [GRCh38]
Chr3:93646252 [GRCh37]
Chr3:3q11.1
pathogenic
NM_000313.3(PROS1):c.1084C>A (p.Gln362Lys) single nucleotide variant Thrombophilia due to protein S deficiency, autosomal recessive [RCV000705375] Chr3:93893004 [GRCh38]
Chr3:93611848 [GRCh37]
Chr3:3q11.1
uncertain significance
NM_000313.3(PROS1):c.252del (p.Lys84fs) deletion Thrombophilia due to protein S deficiency, autosomal recessive [RCV000691217]|not provided [RCV001507629] Chr3:93924247 [GRCh38]
Chr3:93643091 [GRCh37]
Chr3:3q11.1
pathogenic
NM_000313.3(PROS1):c.664G>C (p.Gly222Arg) single nucleotide variant Thrombophilia due to protein S deficiency, autosomal recessive [RCV000700544] Chr3:93900867 [GRCh38]
Chr3:93619711 [GRCh37]
Chr3:3q11.1
uncertain significance
NM_000313.3(PROS1):c.1916G>A (p.Cys639Tyr) single nucleotide variant Protein S deficiency disease [RCV000851725] Chr3:93874360 [GRCh38]
Chr3:93593204 [GRCh37]
Chr3:3q11.1
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 copy number gain not provided [RCV000742138] Chr3:61495..197838262 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 copy number gain not provided [RCV000742133] Chr3:60174..197948027 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3q11.1(chr3:93537290-93645047)x3 copy number gain not provided [RCV000742623] Chr3:93537290..93645047 [GRCh37]
Chr3:3q11.1
benign
GRCh37/hg19 3q11.1(chr3:93612369-93641533)x3 copy number gain not provided [RCV000742624] Chr3:93612369..93641533 [GRCh37]
Chr3:3q11.1
benign
NM_000313.4(PROS1):c.688G>A (p.Glu230Lys) single nucleotide variant Thrombophilia due to protein S deficiency, autosomal recessive [RCV001065364] Chr3:93900843 [GRCh38]
Chr3:93619687 [GRCh37]
Chr3:3q11.1
uncertain significance
NM_000313.4(PROS1):c.*887C>A single nucleotide variant Thrombophilia due to protein S deficiency, autosomal dominant [RCV001148811] Chr3:93873358 [GRCh38]
Chr3:93592202 [GRCh37]
Chr3:3q11.1
uncertain significance
NC_000003.12:g.93873050G>C single nucleotide variant Thrombophilia due to protein S deficiency, autosomal dominant [RCV001146020] Chr3:93873050 [GRCh38]
Chr3:93591894 [GRCh37]
Chr3:3q11.1
uncertain significance
NM_000313.4(PROS1):c.*1186C>T single nucleotide variant Thrombophilia due to protein S deficiency, autosomal dominant [RCV001146021] Chr3:93873059 [GRCh38]
Chr3:93591903 [GRCh37]
Chr3:3q11.1
uncertain significance
NM_000313.4(PROS1):c.*1046T>C single nucleotide variant Thrombophilia due to protein S deficiency, autosomal dominant [RCV001146024] Chr3:93873199 [GRCh38]
Chr3:93592043 [GRCh37]
Chr3:3q11.1
uncertain significance
NM_000313.4(PROS1):c.*1014T>C single nucleotide variant Thrombophilia due to protein S deficiency, autosomal dominant [RCV001146025] Chr3:93873231 [GRCh38]
Chr3:93592075 [GRCh37]
Chr3:3q11.1
uncertain significance
NM_000313.4(PROS1):c.728-15dup duplication Thrombophilia due to protein S deficiency, autosomal recessive [RCV001493001]|not provided [RCV000864017] Chr3:93898576..93898577 [GRCh38]
Chr3:93617420..93617421 [GRCh37]
Chr3:3q11.1
likely benign
NM_000313.4(PROS1):c.1707C>T (p.Ser569=) single nucleotide variant Thrombophilia due to protein S deficiency, autosomal recessive [RCV001463907]|not provided [RCV000864386] Chr3:93877129 [GRCh38]
Chr3:93595973 [GRCh37]
Chr3:3q11.1
likely benign
NM_000313.4(PROS1):c.1479T>A (p.Phe493Leu) single nucleotide variant Thrombophilia due to protein S deficiency, autosomal recessive [RCV001041120] Chr3:93884741 [GRCh38]
Chr3:93603585 [GRCh37]
Chr3:3q11.1
uncertain significance
NM_000313.4(PROS1):c.469+5G>A single nucleotide variant Thrombophilia due to protein S deficiency, autosomal recessive [RCV001062509] Chr3:93906016 [GRCh38]
Chr3:93624860 [GRCh37]
Chr3:3q11.1
uncertain significance
NC_000003.12:g.(?_93879153)_(93879331_?)del deletion Thrombophilia due to protein S deficiency, autosomal recessive [RCV001033262] Chr3:93597997..93598175 [GRCh37]
Chr3:3q11.1
pathogenic
NM_000313.4(PROS1):c.1147T>C (p.Trp383Arg) single nucleotide variant Thrombophilia due to protein S deficiency, autosomal recessive [RCV001052350] Chr3:93892941 [GRCh38]
Chr3:93611785 [GRCh37]
Chr3:3q11.1
uncertain significance
NM_000313.3(PROS1):c.1079A>G (p.Glu360Gly) single nucleotide variant Protein S deficiency disease [RCV000851651] Chr3:93893009 [GRCh38]
Chr3:93611853 [GRCh37]
Chr3:3q11.1
likely pathogenic
NM_000313.4(PROS1):c.1446C>T (p.Gly482=) single nucleotide variant Thrombophilia due to protein S deficiency, autosomal dominant [RCV001148949]|Thrombophilia due to protein S deficiency, autosomal recessive [RCV000862851] Chr3:93884774 [GRCh38]
Chr3:93603618 [GRCh37]
Chr3:3q11.1
benign|likely benign
NM_000313.4(PROS1):c.1041A>G (p.Ser347=) single nucleotide variant Thrombophilia due to protein S deficiency, autosomal recessive [RCV000863767] Chr3:93893047 [GRCh38]
Chr3:93611891 [GRCh37]
Chr3:3q11.1
likely benign
NM_000313.4(PROS1):c.1248G>A (p.Pro416=) single nucleotide variant Thrombophilia due to protein S deficiency, autosomal recessive [RCV000867748] Chr3:93886411 [GRCh38]
Chr3:93605255 [GRCh37]
Chr3:3q11.1
likely benign
NM_000313.3(PROS1):c.1155+5G>A single nucleotide variant Protein S deficiency disease [RCV000851997]|Thrombophilia due to protein S deficiency, autosomal recessive [RCV001389154] Chr3:93892928 [GRCh38]
Chr3:93611772 [GRCh37]
Chr3:3q11.1
pathogenic|likely pathogenic
NM_000313.3(PROS1):c.986T>C (p.Phe329Ser) single nucleotide variant Thrombophilia due to protein S deficiency, autosomal recessive [RCV000797637] Chr3:93893102 [GRCh38]
Chr3:93611946 [GRCh37]
Chr3:3q11.1
uncertain significance
NM_000313.4(PROS1):c.1324-3T>G single nucleotide variant not provided [RCV000998110] Chr3:93884899 [GRCh38]
Chr3:93603743 [GRCh37]
Chr3:3q11.1
uncertain significance
NM_000313.4(PROS1):c.842G>A (p.Ser281Asn) single nucleotide variant not provided [RCV000998111] Chr3:93898455 [GRCh38]
Chr3:93617299 [GRCh37]
Chr3:3q11.1
uncertain significance
NM_000313.3(PROS1):c.260-7T>G single nucleotide variant Thrombophilia due to protein S deficiency, autosomal recessive [RCV000812391] Chr3:93910712 [GRCh38]
Chr3:93629556 [GRCh37]
Chr3:3q11.1
uncertain significance
NM_000313.3(PROS1):c.353C>T (p.Pro118Leu) single nucleotide variant Protein S deficiency disease [RCV000851642] Chr3:93906137 [GRCh38]
Chr3:93624981 [GRCh37]
Chr3:3q11.1
likely pathogenic
NM_000313.3(PROS1):c.1553C>T (p.Thr518Met) single nucleotide variant Protein S deficiency disease [RCV000851707] Chr3:93879254 [GRCh38]
Chr3:93598098 [GRCh37]
Chr3:3q11.1
uncertain significance
NM_000313.3(PROS1):c.1543C>T (p.Arg515Cys) single nucleotide variant Protein S deficiency disease [RCV000851705] Chr3:93879264 [GRCh38]
Chr3:93598108 [GRCh37]
Chr3:3q11.1
likely pathogenic
NM_000313.3(PROS1):c.624G>T (p.Lys208Asn) single nucleotide variant Thrombophilia due to protein S deficiency, autosomal recessive [RCV000815357] Chr3:93900907 [GRCh38]
Chr3:93619751 [GRCh37]
Chr3:3q11.1
uncertain significance
NM_000313.4(PROS1):c.1876C>T (p.Pro626Ser) single nucleotide variant Thrombophilia due to protein S deficiency, autosomal dominant [RCV001146140] Chr3:93874400 [GRCh38]
Chr3:93593244 [GRCh37]
Chr3:3q11.1
uncertain significance
NC_000003.12:g.93973916C>A single nucleotide variant Thrombophilia due to protein S deficiency, autosomal dominant [RCV001146274] Chr3:93973916 [GRCh38]
Chr3:93692760 [GRCh37]
Chr3:3q11.1
uncertain significance
NM_000313.3(PROS1):c.913C>T (p.Gln305Ter) single nucleotide variant Protein S deficiency disease [RCV000852246] Chr3:93896628 [GRCh38]
Chr3:93615472 [GRCh37]
Chr3:3q11.1
likely pathogenic
NM_000313.4(PROS1):c.*454G>A single nucleotide variant Thrombophilia due to protein S deficiency, autosomal dominant [RCV001150336] Chr3:93873791 [GRCh38]
Chr3:93592635 [GRCh37]
Chr3:3q11.1
likely benign
NM_000313.4(PROS1):c.*380A>T single nucleotide variant Thrombophilia due to protein S deficiency, autosomal dominant [RCV001150338] Chr3:93873865 [GRCh38]
Chr3:93592709 [GRCh37]
Chr3:3q11.1
likely benign
NM_000313.3(PROS1):c.1956T>G (p.Asp652Glu) single nucleotide variant Thrombophilia due to protein S deficiency, autosomal recessive [RCV000794073] Chr3:93874320 [GRCh38]
Chr3:93593164 [GRCh37]
Chr3:3q11.1
uncertain significance
NM_000313.4(PROS1):c.1871-14T>G single nucleotide variant Thrombophilia due to protein S deficiency, autosomal dominant [RCV000987295]|Thrombophilia due to protein S deficiency, autosomal recessive [RCV001299638] Chr3:93874419 [GRCh38]
Chr3:93593263 [GRCh37]
Chr3:3q11.1
uncertain significance
NM_000313.4(PROS1):c.*1082A>G single nucleotide variant Thrombophilia due to protein S deficiency, autosomal dominant [RCV001146023] Chr3:93873163 [GRCh38]
Chr3:93592007 [GRCh37]
Chr3:3q11.1
uncertain significance
NM_000313.4(PROS1):c.*737G>C single nucleotide variant Thrombophilia due to protein S deficiency, autosomal dominant [RCV001148812] Chr3:93873508 [GRCh38]
Chr3:93592352 [GRCh37]
Chr3:3q11.1
uncertain significance
NM_000313.4(PROS1):c.1752G>A (p.Leu584=) single nucleotide variant Thrombophilia due to protein S deficiency, autosomal dominant [RCV001146142] Chr3:93877084 [GRCh38]
Chr3:93595928 [GRCh37]
Chr3:3q11.1
uncertain significance
NM_000313.4(PROS1):c.728-12T>C single nucleotide variant Thrombophilia due to protein S deficiency, autosomal dominant [RCV001150464] Chr3:93898581 [GRCh38]
Chr3:93617425 [GRCh37]
Chr3:3q11.1
uncertain significance
NM_000313.4(PROS1):c.1324-6del deletion Thrombophilia due to protein S deficiency, autosomal recessive [RCV001460041]|not provided [RCV000941052] Chr3:93884902 [GRCh38]
Chr3:93603746 [GRCh37]
Chr3:3q11.1
likely benign
NM_000313.4(PROS1):c.*992T>G single nucleotide variant Thrombophilia due to protein S deficiency, autosomal dominant [RCV001148809] Chr3:93873253 [GRCh38]
Chr3:93592097 [GRCh37]
Chr3:3q11.1
likely benign
NM_000313.4(PROS1):c.1870+4T>C single nucleotide variant not provided [RCV000998107] Chr3:93876962 [GRCh38]
Chr3:93595806 [GRCh37]
Chr3:3q11.1
uncertain significance
NM_000313.4(PROS1):c.234+6C>T single nucleotide variant not provided [RCV000998115] Chr3:93927244 [GRCh38]
Chr3:93646088 [GRCh37]
Chr3:3q11.1
uncertain significance
NM_000313.4(PROS1):c.1708G>A (p.Asp570Asn) single nucleotide variant Thrombophilia due to protein S deficiency, autosomal dominant [RCV001146143] Chr3:93877128 [GRCh38]
Chr3:93595972 [GRCh37]
Chr3:3q11.1
uncertain significance
GRCh37/hg19 3q11.1(chr3:93519464-93756719)x3 copy number gain not provided [RCV000848942] Chr3:93519464..93756719 [GRCh37]
Chr3:3q11.1
uncertain significance
NM_000313.3(PROS1):c.-168C>T single nucleotide variant Protein S deficiency disease [RCV000851579] Chr3:93973917 [GRCh38]
Chr3:93692761 [GRCh37]
Chr3:3q11.1
likely pathogenic
NM_000313.3(PROS1):c.137T>C (p.Leu46Pro) single nucleotide variant Protein S deficiency disease [RCV000851694] Chr3:93927347 [GRCh38]
Chr3:93646191 [GRCh37]
Chr3:3q11.1
uncertain significance
NM_000313.3(PROS1):c.550del (p.Cys184fs) deletion Protein S deficiency disease [RCV000851816] Chr3:93905835 [GRCh38]
Chr3:93624679 [GRCh37]
Chr3:3q11.1
uncertain significance
NM_000313.3(PROS1):c.1112T>C (p.Ile371Thr) single nucleotide variant Abnormal thrombosis [RCV000851660] Chr3:93892976 [GRCh38]
Chr3:93611820 [GRCh37]
Chr3:3q11.1
uncertain significance
NM_000313.3(PROS1):c.1973A>G (p.His658Arg) single nucleotide variant Protein S deficiency disease [RCV000851727] Chr3:93874303 [GRCh38]
Chr3:93593147 [GRCh37]
Chr3:3q11.1
uncertain significance
NM_000313.3(PROS1):c.1996T>C (p.Cys666Arg) single nucleotide variant Protein S deficiency disease [RCV000851732] Chr3:93874280 [GRCh38]
Chr3:93593124 [GRCh37]
Chr3:3q11.1
pathogenic
NM_000313.3(PROS1):c.1405G>T (p.Glu469Ter) single nucleotide variant Protein S deficiency disease [RCV000852021] Chr3:93884815 [GRCh38]
Chr3:93603659 [GRCh37]
Chr3:3q11.1
likely pathogenic
NM_000313.4(PROS1):c.766T>A (p.Cys256Ser) single nucleotide variant Thrombophilia due to protein S deficiency, autosomal dominant [RCV001002782] Chr3:93898531 [GRCh38]
Chr3:93617375 [GRCh37]
Chr3:3q11.1
likely pathogenic
NM_000313.4(PROS1):c.269G>A (p.Arg90His) single nucleotide variant Thrombophilia due to protein S deficiency, autosomal recessive [RCV001213586] Chr3:93910696 [GRCh38]
Chr3:93629540 [GRCh37]
Chr3:3q11.1
uncertain significance
NM_000313.4(PROS1):c.581C>A (p.Ser194Ter) single nucleotide variant Thrombophilia due to protein S deficiency, autosomal recessive [RCV001233375] Chr3:93905804 [GRCh38]
Chr3:93624648 [GRCh37]
Chr3:3q11.1
pathogenic
NM_000313.3(PROS1):c.77-1346A>G single nucleotide variant Thromboembolism [RCV000851877] Chr3:93928753 [GRCh38]
Chr3:93647597 [GRCh37]
Chr3:3q11.1
uncertain significance
NM_000313.3(PROS1):c.1680T>A (p.Tyr560Ter) single nucleotide variant Protein S deficiency disease [RCV000851930]|Thrombophilia due to protein S deficiency, autosomal recessive [RCV001241347] Chr3:93877156 [GRCh38]
Chr3:93596000 [GRCh37]
Chr3:3q11.1
pathogenic|likely pathogenic
NM_000313.3(PROS1):c.1126G>A (p.Asp376Asn) single nucleotide variant Protein S deficiency disease [RCV000851991] Chr3:93892962 [GRCh38]
Chr3:93611806 [GRCh37]
Chr3:3q11.1
likely pathogenic
NM_000313.3(PROS1):c.785del (p.Gly262fs) deletion Protein S deficiency disease [RCV000852221] Chr3:93898512 [GRCh38]
Chr3:93617356 [GRCh37]
Chr3:3q11.1
pathogenic
NM_000313.4(PROS1):c.1501T>G (p.Ser501Ala) single nucleotide variant Thrombophilia due to protein S deficiency, autosomal recessive [RCV001223339] Chr3:93879306 [GRCh38]
Chr3:93598150 [GRCh37]
Chr3:3q11.1
uncertain significance
NM_000313.3(PROS1):c.148A>G (p.Lys50Glu) single nucleotide variant Abnormal bleeding [RCV000851696]|Thrombophilia due to protein S deficiency, autosomal recessive [RCV001320343] Chr3:93927336 [GRCh38]
Chr3:93646180 [GRCh37]
Chr3:3q11.1
uncertain significance
NM_000313.3(PROS1):c.511T>G (p.Cys171Gly) single nucleotide variant Protein S deficiency disease [RCV000851812] Chr3:93905874 [GRCh38]
Chr3:93624718 [GRCh37]
Chr3:3q11.1
uncertain significance
NM_000313.3(PROS1):c.1284del (p.Gly429fs) deletion Protein S deficiency disease [RCV000851586] Chr3:93886375 [GRCh38]
Chr3:93605219 [GRCh37]
Chr3:3q11.1
likely pathogenic
NM_000313.3(PROS1):c.49dup (p.Leu17fs) duplication Protein S deficiency disease [RCV000851805] Chr3:93973700..93973701 [GRCh38]
Chr3:93692544..93692545 [GRCh37]
Chr3:3q11.1
likely pathogenic
NM_000313.3(PROS1):c.970T>C (p.Ser324Pro) single nucleotide variant Protein S deficiency disease [RCV000851920] Chr3:93893118 [GRCh38]
Chr3:93611962 [GRCh37]
Chr3:3q11.1
likely pathogenic
NM_000313.3(PROS1):c.128A>G (p.Asn43Ser) single nucleotide variant Thromboembolism [RCV000852006] Chr3:93927356 [GRCh38]
Chr3:93646200 [GRCh37]
Chr3:3q11.1
uncertain significance
NM_000313.3(PROS1):c.1451A>G (p.Tyr484Cys) single nucleotide variant Protein S deficiency disease [RCV000852031] Chr3:93884769 [GRCh38]
Chr3:93603613 [GRCh37]
Chr3:3q11.1
uncertain significance
NM_000313.3(PROS1):c.1908del (p.Phe635_Tyr636insTer) deletion Protein S deficiency disease [RCV000851724] Chr3:93874368 [GRCh38]
Chr3:93593212 [GRCh37]
Chr3:3q11.1
pathogenic
NM_000313.3(PROS1):c.1514del (p.Gly505fs) deletion Protein S deficiency disease [RCV000851703] Chr3:93879293 [GRCh38]
Chr3:93598137 [GRCh37]
Chr3:3q11.1
likely pathogenic
Single allele deletion Protein S deficiency disease [RCV000852272] Chr3:93591831..93692960 [GRCh37]
Chr3:3q11.1
likely pathogenic
NM_000313.4(PROS1):c.*385A>G single nucleotide variant Thrombophilia due to protein S deficiency, autosomal dominant [RCV001150337] Chr3:93873860 [GRCh38]
Chr3:93592704 [GRCh37]
Chr3:3q11.1
uncertain significance
NM_000313.4(PROS1):c.228G>A (p.Pro76=) single nucleotide variant Thrombophilia due to protein S deficiency, autosomal dominant [RCV001144369] Chr3:93927256 [GRCh38]
Chr3:93646100 [GRCh37]
Chr3:3q11.1
uncertain significance
NM_000313.4(PROS1):c.*972C>T single nucleotide variant Thrombophilia due to protein S deficiency, autosomal dominant [RCV001148810] Chr3:93873273 [GRCh38]
Chr3:93592117 [GRCh37]
Chr3:3q11.1
uncertain significance
NM_000313.4(PROS1):c.*1103A>G single nucleotide variant Thrombophilia due to protein S deficiency, autosomal dominant [RCV001146022] Chr3:93873142 [GRCh38]
Chr3:93591986 [GRCh37]
Chr3:3q11.1
uncertain significance
NM_000313.4(PROS1):c.965+9C>T single nucleotide variant Thrombophilia due to protein S deficiency, autosomal dominant [RCV001148950] Chr3:93896567 [GRCh38]
Chr3:93615411 [GRCh37]
Chr3:3q11.1
uncertain significance
NM_000313.4(PROS1):c.1502C>G (p.Ser501Cys) single nucleotide variant Thrombophilia due to protein S deficiency, autosomal dominant [RCV001146144] Chr3:93879305 [GRCh38]
Chr3:93598149 [GRCh37]
Chr3:3q11.1
uncertain significance
NC_000003.12:g.93973939G>C single nucleotide variant Thrombophilia due to protein S deficiency, autosomal dominant [RCV001149064] Chr3:93973939 [GRCh38]
Chr3:93692783 [GRCh37]
Chr3:3q11.1
uncertain significance
NM_000313.4(PROS1):c.798T>C (p.Tyr266=) single nucleotide variant Thrombophilia due to protein S deficiency, autosomal recessive [RCV001398417]|not provided [RCV000918705] Chr3:93898499 [GRCh38]
Chr3:93617343 [GRCh37]
Chr3:3q11.1
likely benign
NM_000313.4(PROS1):c.48C>A (p.Leu16=) single nucleotide variant Thrombophilia due to protein S deficiency, autosomal recessive [RCV001518852]|not provided [RCV000861608] Chr3:93973702 [GRCh38]
Chr3:93692546 [GRCh37]
Chr3:3q11.1
benign
NM_000313.4(PROS1):c.258A>G (p.Leu86=) single nucleotide variant Thrombophilia due to protein S deficiency, autosomal recessive [RCV001244322] Chr3:93924241 [GRCh38]
Chr3:93643085 [GRCh37]
Chr3:3q11.1
uncertain significance
NC_000003.12:g.(?_93924230)_(93973939_?)del deletion Thrombophilia due to protein S deficiency, autosomal recessive [RCV001032343] Chr3:93643074..93692783 [GRCh37]
Chr3:3q11.1
pathogenic
NM_000313.4(PROS1):c.601+1G>A single nucleotide variant Thrombophilia due to protein S deficiency, autosomal recessive [RCV001036048] Chr3:93905783 [GRCh38]
Chr3:93624627 [GRCh37]
Chr3:3q11.1
likely pathogenic
NM_000313.4(PROS1):c.200A>C (p.Glu67Ala) single nucleotide variant Thrombophilia due to protein S deficiency, autosomal recessive [RCV001216716] Chr3:93927284 [GRCh38]
Chr3:93646128 [GRCh37]
Chr3:3q11.1
likely pathogenic
NM_000313.4(PROS1):c.470-2A>T single nucleotide variant Thrombophilia due to protein S deficiency, autosomal recessive [RCV001051661] Chr3:93905917 [GRCh38]
Chr3:93624761 [GRCh37]
Chr3:3q11.1
pathogenic
NM_000313.4(PROS1):c.1483A>G (p.Ile495Val) single nucleotide variant Thrombophilia due to protein S deficiency, autosomal dominant [RCV001148947] Chr3:93884737 [GRCh38]
Chr3:93603581 [GRCh37]
Chr3:3q11.1
uncertain significance
NM_000313.4(PROS1):c.1155+4C>G single nucleotide variant Thrombophilia due to protein S deficiency, autosomal recessive [RCV000911178] Chr3:93892929 [GRCh38]
Chr3:93611773 [GRCh37]
Chr3:3q11.1
benign
NM_000313.4(PROS1):c.1588A>G (p.Asn530Asp) single nucleotide variant not provided [RCV000998109] Chr3:93879219 [GRCh38]
Chr3:93598063 [GRCh37]
Chr3:3q11.1
uncertain significance
NM_000313.4(PROS1):c.83C>G (p.Ser28Ter) single nucleotide variant not provided [RCV001027527] Chr3:93927401 [GRCh38]
Chr3:93646245 [GRCh37]
Chr3:3q11.1
pathogenic
NM_000313.4(PROS1):c.*469A>C single nucleotide variant Thrombophilia due to protein S deficiency, autosomal dominant [RCV001150335] Chr3:93873776 [GRCh38]
Chr3:93592620 [GRCh37]
Chr3:3q11.1
likely benign
NM_000313.4(PROS1):c.563A>G (p.Asn188Ser) single nucleotide variant Thrombophilia due to protein S deficiency, autosomal dominant [RCV001150465] Chr3:93905822 [GRCh38]
Chr3:93624666 [GRCh37]
Chr3:3q11.1
uncertain significance
Single allele deletion Abnormal thrombosis [RCV001004037] Chr3:93516594..96012342 [GRCh37]
Chr3:3q11.1-11.2
likely pathogenic
NM_000313.4(PROS1):c.469+4C>T single nucleotide variant Thrombophilia due to protein S deficiency, autosomal recessive [RCV001071253] Chr3:93906017 [GRCh38]
Chr3:93624861 [GRCh37]
Chr3:3q11.1
uncertain significance
NC_000003.12:g.(?_93874245)_(94015269_?)dup duplication Joubert syndrome 8 [RCV001032131] Chr3:93593089..93734113 [GRCh37]
Chr3:3q11.1
uncertain significance
NM_000313.4(PROS1):c.269G>C (p.Arg90Pro) single nucleotide variant Thrombophilia due to protein S deficiency, autosomal recessive [RCV001205963] Chr3:93910696 [GRCh38]
Chr3:93629540 [GRCh37]
Chr3:3q11.1
uncertain significance
NM_000313.4(PROS1):c.194AAG[2] (p.Glu67del) microsatellite Thrombophilia due to protein S deficiency, autosomal recessive [RCV001041891] Chr3:93927282..93927284 [GRCh38]
Chr3:93646126..93646128 [GRCh37]
Chr3:3q11.1
uncertain significance
NC_000003.12:g.93973936C>A single nucleotide variant Thrombophilia due to protein S deficiency, autosomal dominant [RCV001149063] Chr3:93973936 [GRCh38]
Chr3:93692780 [GRCh37]
Chr3:3q11.1
uncertain significance
NM_000313.4(PROS1):c.1149G>A (p.Trp383Ter) single nucleotide variant Thrombophilia due to protein S deficiency, autosomal recessive [RCV001237346] Chr3:93892939 [GRCh38]
Chr3:93611783 [GRCh37]
Chr3:3q11.1
pathogenic
NM_000313.4(PROS1):c.1323_1323+1del deletion Thrombophilia due to protein S deficiency, autosomal recessive [RCV001232678] Chr3:93886335..93886336 [GRCh38]
Chr3:93605179..93605180 [GRCh37]
Chr3:3q11.1
likely pathogenic
NM_000313.4(PROS1):c.235-1G>A single nucleotide variant Thrombophilia due to protein S deficiency, autosomal recessive [RCV001216580] Chr3:93924265 [GRCh38]
Chr3:93643109 [GRCh37]
Chr3:3q11.1
likely pathogenic
NM_000313.4(PROS1):c.346+15C>T single nucleotide variant Thrombophilia due to protein S deficiency, autosomal dominant [RCV001144367] Chr3:93910604 [GRCh38]
Chr3:93629448 [GRCh37]
Chr3:3q11.1
uncertain significance
NM_000313.4(PROS1):c.311C>A (p.Thr104Asn) single nucleotide variant Thrombophilia due to protein S deficiency, autosomal dominant [RCV001144368] Chr3:93910654 [GRCh38]
Chr3:93629498 [GRCh37]
Chr3:3q11.1
uncertain significance
NM_000313.4(PROS1):c.1919T>C (p.Met640Thr) single nucleotide variant Thrombophilia due to protein S deficiency, autosomal recessive [RCV001211450] Chr3:93874357 [GRCh38]
Chr3:93593201 [GRCh37]
Chr3:3q11.1
pathogenic
NM_000313.4(PROS1):c.*1_*2insSVAelement insertion Thrombophilia due to protein S deficiency, autosomal recessive [RCV001089793] Chr3:93874243..93874244 [GRCh38]
Chr3:93593087..93593088 [GRCh37]
Chr3:3q11.1
uncertain significance
NM_000313.4(PROS1):c.47T>C (p.Leu16Pro) single nucleotide variant Thrombophilia due to protein S deficiency, autosomal recessive [RCV001040853] Chr3:93973703 [GRCh38]
Chr3:93692547 [GRCh37]
Chr3:3q11.1
uncertain significance
NM_000313.4(PROS1):c.-48C>A single nucleotide variant Thrombophilia due to protein S deficiency, autosomal dominant [RCV001146273] Chr3:93973797 [GRCh38]
Chr3:93692641 [GRCh37]
Chr3:3q11.1
uncertain significance
NM_000313.4(PROS1):c.*550G>A single nucleotide variant Thrombophilia due to protein S deficiency, autosomal dominant [RCV001150334] Chr3:93873695 [GRCh38]
Chr3:93592539 [GRCh37]
Chr3:3q11.1
uncertain significance
NC_000003.12:g.(?_93973674)_(94126490_?)dup duplication Joubert syndrome 8 [RCV001033471] Chr3:93692518..93845334 [GRCh37]
Chr3:3q11.1
uncertain significance
NM_000313.4(PROS1):c.1424G>A (p.Cys475Tyr) single nucleotide variant Thrombophilia due to protein S deficiency, autosomal recessive [RCV001056459] Chr3:93884796 [GRCh38]
Chr3:93603640 [GRCh37]
Chr3:3q11.1
uncertain significance
NM_000313.4(PROS1):c.1774A>C (p.Ile592Leu) single nucleotide variant not provided [RCV001092353] Chr3:93877062 [GRCh38]
Chr3:93595906 [GRCh37]
Chr3:3q11.1
uncertain significance
NM_000313.4(PROS1):c.1457C>G (p.Pro486Arg) single nucleotide variant Thrombophilia due to protein S deficiency, autosomal dominant [RCV001148948] Chr3:93884763 [GRCh38]
Chr3:93603607 [GRCh37]
Chr3:3q11.1
uncertain significance
NM_000313.4(PROS1):c.1889C>T (p.Thr630Ile) single nucleotide variant Thrombophilia due to protein S deficiency, autosomal dominant [RCV001144250] Chr3:93874387 [GRCh38]
Chr3:93593231 [GRCh37]
Chr3:3q11.1
uncertain significance
NM_000313.4(PROS1):c.947G>A (p.Arg316His) single nucleotide variant Thrombophilia due to protein S deficiency, autosomal dominant [RCV001262970] Chr3:93896594 [GRCh38]
Chr3:93615438 [GRCh37]
Chr3:3q11.1
uncertain significance
NM_000313.4(PROS1):c.139G>C (p.Glu47Gln) single nucleotide variant Inborn genetic diseases [RCV001266167] Chr3:93927345 [GRCh38]
Chr3:93646189 [GRCh37]
Chr3:3q11.1
uncertain significance
NM_000313.4(PROS1):c.1727A>T (p.Glu576Val) single nucleotide variant Thrombophilia due to protein S deficiency, autosomal recessive [RCV001341081] Chr3:93877109 [GRCh38]
Chr3:93595953 [GRCh37]
Chr3:3q11.1
uncertain significance
NM_000313.4(PROS1):c.259+6T>C single nucleotide variant not provided [RCV001312034] Chr3:93924234 [GRCh38]
Chr3:93643078 [GRCh37]
Chr3:3q11.1
uncertain significance
NM_000313.4(PROS1):c.-3G>T single nucleotide variant not provided [RCV001290759] Chr3:93973752 [GRCh38]
Chr3:93692596 [GRCh37]
Chr3:3q11.1
uncertain significance
NM_000313.4(PROS1):c.538G>A (p.Gly180Arg) single nucleotide variant Thrombophilia due to protein S deficiency, autosomal recessive [RCV001352320] Chr3:93905847 [GRCh38]
Chr3:93624691 [GRCh37]
Chr3:3q11.1
uncertain significance
NM_000313.4(PROS1):c.1464T>C (p.Ser488=) single nucleotide variant Thrombophilia due to protein S deficiency, autosomal recessive [RCV001392376] Chr3:93884756 [GRCh38]
Chr3:93603600 [GRCh37]
Chr3:3q11.1
likely benign
NM_000313.4(PROS1):c.1564G>A (p.Val522Ile) single nucleotide variant Thrombophilia due to protein S deficiency, autosomal recessive [RCV001314182] Chr3:93879243 [GRCh38]
Chr3:93598087 [GRCh37]
Chr3:3q11.1
uncertain significance
NM_000313.4(PROS1):c.1641A>G (p.Ser547=) single nucleotide variant Thrombophilia due to protein S deficiency, autosomal recessive [RCV001422575] Chr3:93879166 [GRCh38]
Chr3:93598010 [GRCh37]
Chr3:3q11.1
likely benign
NM_000313.4(PROS1):c.1981A>G (p.Ile661Val) single nucleotide variant Thrombophilia due to protein S deficiency, autosomal recessive [RCV001316326] Chr3:93874295 [GRCh38]
Chr3:93593139 [GRCh37]
Chr3:3q11.1
uncertain significance
NM_000313.4(PROS1):c.183A>G (p.Glu61=) single nucleotide variant Thrombophilia due to protein S deficiency, autosomal recessive [RCV001422352] Chr3:93927301 [GRCh38]
Chr3:93646145 [GRCh37]
Chr3:3q11.1
likely benign
NM_000313.4(PROS1):c.1020C>T (p.Tyr340=) single nucleotide variant Thrombophilia due to protein S deficiency, autosomal recessive [RCV001421100] Chr3:93893068 [GRCh38]
Chr3:93611912 [GRCh37]
Chr3:3q11.1
likely benign
NM_000313.4(PROS1):c.1295G>A (p.Arg432Gln) single nucleotide variant Thrombophilia due to protein S deficiency, autosomal recessive [RCV001370059] Chr3:93886364 [GRCh38]
Chr3:93605208 [GRCh37]
Chr3:3q11.1
uncertain significance
NM_000313.4(PROS1):c.1566T>A (p.Val522=) single nucleotide variant Thrombophilia due to protein S deficiency, autosomal recessive [RCV001397310] Chr3:93879241 [GRCh38]
Chr3:93598085 [GRCh37]
Chr3:3q11.1
likely benign
NM_000313.4(PROS1):c.1324A>G (p.Ile442Val) single nucleotide variant Thrombophilia due to protein S deficiency, autosomal recessive [RCV001364004] Chr3:93884896 [GRCh38]
Chr3:93603740 [GRCh37]
Chr3:3q11.1
uncertain significance
NM_000313.4(PROS1):c.566G>A (p.Gly189Asp) single nucleotide variant Thrombophilia due to protein S deficiency, autosomal recessive [RCV001316488] Chr3:93905819 [GRCh38]
Chr3:93624663 [GRCh37]
Chr3:3q11.1
uncertain significance
NC_000003.11:g.(?_93692518)_(93845334_?)dup duplication Joubert syndrome 8 [RCV001320324] Chr3:93692518..93845334 [GRCh37]
Chr3:3q11.1
uncertain significance
NM_000313.4(PROS1):c.740G>C (p.Cys247Ser) single nucleotide variant Thrombophilia due to protein S deficiency, autosomal dominant [RCV001353254] Chr3:93898557 [GRCh38]
Chr3:93617401 [GRCh37]
Chr3:3q11.1
pathogenic
NM_000313.4(PROS1):c.1460G>A (p.Gly487Asp) single nucleotide variant Thrombophilia due to protein S deficiency, autosomal recessive [RCV001372912] Chr3:93884760 [GRCh38]
Chr3:93603604 [GRCh37]
Chr3:3q11.1
uncertain significance
NM_000313.4(PROS1):c.512G>C (p.Cys171Ser) single nucleotide variant Thrombophilia due to protein S deficiency, autosomal recessive [RCV001295437] Chr3:93905873 [GRCh38]
Chr3:93624717 [GRCh37]
Chr3:3q11.1
uncertain significance
NM_000313.4(PROS1):c.1252A>T (p.Asn418Tyr) single nucleotide variant Thrombophilia due to protein S deficiency, autosomal dominant [RCV001353255] Chr3:93886407 [GRCh38]
Chr3:93605251 [GRCh37]
Chr3:3q11.1
likely pathogenic
NM_000313.4(PROS1):c.1820T>C (p.Leu607Ser) single nucleotide variant Thrombophilia due to protein S deficiency, autosomal dominant [RCV001376108] Chr3:93877016 [GRCh38]
Chr3:93595860 [GRCh37]
Chr3:3q11.1
uncertain significance
NM_000313.4(PROS1):c.177C>T (p.Ile59=) single nucleotide variant Thrombophilia due to protein S deficiency, autosomal recessive [RCV001422127] Chr3:93927307 [GRCh38]
Chr3:93646151 [GRCh37]
Chr3:3q11.1
likely benign
NM_000313.4(PROS1):c.119G>A (p.Arg40His) single nucleotide variant Thrombophilia due to protein S deficiency, autosomal recessive [RCV001299079] Chr3:93927365 [GRCh38]
Chr3:93646209 [GRCh37]
Chr3:3q11.1
uncertain significance
NM_000313.4(PROS1):c.1146A>G (p.Leu382=) single nucleotide variant Thrombophilia due to protein S deficiency, autosomal recessive [RCV001464953] Chr3:93892942 [GRCh38]
Chr3:93611786 [GRCh37]
Chr3:3q11.1
likely benign
NM_000313.4(PROS1):c.99A>G (p.Ser33=) single nucleotide variant Thrombophilia due to protein S deficiency, autosomal recessive [RCV001424988] Chr3:93927385 [GRCh38]
Chr3:93646229 [GRCh37]
Chr3:3q11.1
likely benign
NM_000313.4(PROS1):c.708C>G (p.Leu236=) single nucleotide variant Thrombophilia due to protein S deficiency, autosomal recessive [RCV001492543] Chr3:93900823 [GRCh38]
Chr3:93619667 [GRCh37]
Chr3:3q11.1
likely benign
NM_000313.4(PROS1):c.871T>C (p.Leu291=) single nucleotide variant Thrombophilia due to protein S deficiency, autosomal recessive [RCV001489356] Chr3:93896670 [GRCh38]
Chr3:93615514 [GRCh37]
Chr3:3q11.1
likely benign
NM_000313.4(PROS1):c.1938T>C (p.Gly646=) single nucleotide variant Thrombophilia due to protein S deficiency, autosomal recessive [RCV001440318] Chr3:93874338 [GRCh38]
Chr3:93593182 [GRCh37]
Chr3:3q11.1
likely benign
NM_000313.4(PROS1):c.1084C>T (p.Gln362Ter) single nucleotide variant Thrombophilia due to protein S deficiency, autosomal recessive [RCV001380840] Chr3:93893004 [GRCh38]
Chr3:93611848 [GRCh37]
Chr3:3q11.1
pathogenic
NM_000313.4(PROS1):c.1044G>A (p.Ala348=) single nucleotide variant Thrombophilia due to protein S deficiency, autosomal recessive [RCV001423725] Chr3:93893044 [GRCh38]
Chr3:93611888 [GRCh37]
Chr3:3q11.1
likely benign
NM_000313.4(PROS1):c.60C>T (p.Pro20=) single nucleotide variant Thrombophilia due to protein S deficiency, autosomal recessive [RCV001427300] Chr3:93973690 [GRCh38]
Chr3:93692534 [GRCh37]
Chr3:3q11.1
likely benign
NM_000313.4(PROS1):c.727+8G>A single nucleotide variant Thrombophilia due to protein S deficiency, autosomal recessive [RCV001451404] Chr3:93900796 [GRCh38]
Chr3:93619640 [GRCh37]
Chr3:3q11.1
likely benign
NM_000313.4(PROS1):c.444T>C (p.Gly148=) single nucleotide variant Thrombophilia due to protein S deficiency, autosomal recessive [RCV001459008] Chr3:93906046 [GRCh38]
Chr3:93624890 [GRCh37]
Chr3:3q11.1
likely benign
NM_000313.4(PROS1):c.1815C>T (p.Ala605=) single nucleotide variant Thrombophilia due to protein S deficiency, autosomal recessive [RCV001452798] Chr3:93877021 [GRCh38]
Chr3:93595865 [GRCh37]
Chr3:3q11.1
likely benign
NM_000313.4(PROS1):c.1335T>G (p.Arg445=) single nucleotide variant Thrombophilia due to protein S deficiency, autosomal recessive [RCV001501578] Chr3:93884885 [GRCh38]
Chr3:93603729 [GRCh37]
Chr3:3q11.1
likely benign
NM_000313.4(PROS1):c.903C>T (p.Tyr301=) single nucleotide variant Thrombophilia due to protein S deficiency, autosomal recessive [RCV001490206] Chr3:93896638 [GRCh38]
Chr3:93615482 [GRCh37]
Chr3:3q11.1
likely benign
NM_000313.4(PROS1):c.1871-2A>G single nucleotide variant Thrombophilia due to protein S deficiency, autosomal recessive [RCV001379760] Chr3:93874407 [GRCh38]
Chr3:93593251 [GRCh37]
Chr3:3q11.1
likely pathogenic
NM_000313.4(PROS1):c.470-4T>C single nucleotide variant Thrombophilia due to protein S deficiency, autosomal recessive [RCV001502954] Chr3:93905919 [GRCh38]
Chr3:93624763 [GRCh37]
Chr3:3q11.1
likely benign
NM_000313.4(PROS1):c.1599G>A (p.Val533=) single nucleotide variant Thrombophilia due to protein S deficiency, autosomal recessive [RCV001484417] Chr3:93879208 [GRCh38]
Chr3:93598052 [GRCh37]
Chr3:3q11.1
likely benign
NM_000313.4(PROS1):c.181G>T (p.Glu61Ter) single nucleotide variant Thrombophilia due to protein S deficiency, autosomal recessive [RCV001381645] Chr3:93927303 [GRCh38]
Chr3:93646147 [GRCh37]
Chr3:3q11.1
pathogenic
NM_000313.4(PROS1):c.1A>C (p.Met1Leu) single nucleotide variant Thrombophilia due to protein S deficiency, autosomal recessive [RCV001377708] Chr3:93973749 [GRCh38]
Chr3:93692593 [GRCh37]
Chr3:3q11.1
likely pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9456 AgrOrtholog
COSMIC PROS1 COSMIC
Ensembl Genes ENSG00000184500 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000330021 UniProtKB/Swiss-Prot
  ENSP00000377783 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000385794 UniProtKB/TrEMBL
  ENSP00000419616 UniProtKB/TrEMBL
  ENSP00000496822 UniProtKB/TrEMBL
  ENSP00000497262 UniProtKB/TrEMBL
  ENSP00000497376 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000497962 UniProtKB/TrEMBL
  ENSP00000498163 UniProtKB/TrEMBL
Ensembl Transcript ENST00000348974 UniProtKB/Swiss-Prot
  ENST00000394236 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000407433 UniProtKB/TrEMBL
  ENST00000472684 UniProtKB/TrEMBL
  ENST00000647936 UniProtKB/TrEMBL
  ENST00000648853 UniProtKB/TrEMBL
  ENST00000649103 UniProtKB/TrEMBL
  ENST00000649585 UniProtKB/TrEMBL
  ENST00000650591 ENTREZGENE, UniProtKB/TrEMBL
Gene3D-CATH 4.10.740.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000184500 GTEx
HGNC ID HGNC:9456 ENTREZGENE
Human Proteome Map PROS1 Human Proteome Map
InterPro Coagulation_fac-like_Gla_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ConA-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF-like_Ca-bd_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF-type_Asp/Asn_hydroxyl_site UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_Ca-bd_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GLA-like_dom_SF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GLA_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Growth_fac_rcpt_cys_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Laminin_G UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROS1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:5627 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 5627 ENTREZGENE
OMIM 176880 OMIM
  612336 OMIM
  614514 OMIM
PANTHER PTHR24040:SF0 UniProtKB/TrEMBL
  PTHR24040:SF10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam EGF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_CA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Gla UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Laminin_G_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Laminin_G_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA33809 PharmGKB, RGD
PRINTS GLABLOOD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE ASX_HYDROXYL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_CA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GLA_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GLA_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LAM_G_DOMAIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART EGF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_CA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GLA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LamG UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF49899 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF57184 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF57630 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0S2Z4K3 ENTREZGENE, UniProtKB/TrEMBL
  A0A0S2Z4L3 ENTREZGENE, UniProtKB/TrEMBL
  A0A3B3IRK9_HUMAN UniProtKB/TrEMBL
  A0A3B3ISJ1_HUMAN UniProtKB/TrEMBL
  A0A3B3ITZ7_HUMAN UniProtKB/TrEMBL
  A0A3B3IUA6_HUMAN UniProtKB/TrEMBL
  C9K0R0_HUMAN UniProtKB/TrEMBL
  G5E9F8_HUMAN UniProtKB/TrEMBL
  P07225 ENTREZGENE, UniProtKB/Swiss-Prot
  Q06F34_HUMAN UniProtKB/TrEMBL
  Q06F35_HUMAN UniProtKB/TrEMBL
  Q16441_HUMAN UniProtKB/TrEMBL
  Q16519_HUMAN UniProtKB/TrEMBL
  Q1W146_HUMAN UniProtKB/TrEMBL
  Q1W147_HUMAN UniProtKB/TrEMBL
  Q1W148_HUMAN UniProtKB/TrEMBL
  Q2EGA0_HUMAN UniProtKB/TrEMBL
  Q6BCZ9_HUMAN UniProtKB/TrEMBL
  Q6J1N0_HUMAN UniProtKB/TrEMBL
  Q7KYZ1_HUMAN UniProtKB/TrEMBL
  Q86Z10_HUMAN UniProtKB/TrEMBL
  Q8IU87_HUMAN UniProtKB/TrEMBL
  Q8IVH1_HUMAN UniProtKB/TrEMBL
  Q8IXC3_HUMAN UniProtKB/TrEMBL
  Q8IXC4_HUMAN UniProtKB/TrEMBL
  Q8IXC5_HUMAN UniProtKB/TrEMBL
  Q8IXC6_HUMAN UniProtKB/TrEMBL
  Q8IXC8_HUMAN UniProtKB/TrEMBL
  Q8IXC9_HUMAN UniProtKB/TrEMBL
  Q8IXD0_HUMAN UniProtKB/TrEMBL
  Q8IXD1_HUMAN UniProtKB/TrEMBL
  Q8IXD2_HUMAN UniProtKB/TrEMBL
  Q8IXD3_HUMAN UniProtKB/TrEMBL
  Q8IXD4_HUMAN UniProtKB/TrEMBL
  Q8IXD5_HUMAN UniProtKB/TrEMBL
  Q8J010_HUMAN UniProtKB/TrEMBL
  Q8J011_HUMAN UniProtKB/TrEMBL
UniProt Secondary A8KAC9 UniProtKB/Swiss-Prot
  D3DN28 UniProtKB/Swiss-Prot
  Q15518 UniProtKB/Swiss-Prot
  Q16440 UniProtKB/TrEMBL
  Q7Z715 UniProtKB/Swiss-Prot
  Q9UCZ8 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2017-08-15 PROS1  protein S    protein S (alpha)  Symbol and/or name change 5135510 APPROVED
2011-08-16 PROS1  protein S (alpha)  PROS1  protein S (alpha)  Symbol and/or name change 5135510 APPROVED