CAST (calpastatin) - Rat Genome Database

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Pathways
Gene: CAST (calpastatin) Homo sapiens
Analyze
Symbol: CAST
Name: calpastatin
RGD ID: 737362
HGNC Page HGNC:1515
Description: Enables calcium-dependent cysteine-type endopeptidase inhibitor activity. Involved in negative regulation of type B pancreatic cell apoptotic process. Located in cytosol; endoplasmic reticulum; and membrane. Implicated in Parkinson's disease; autoimmune disease (multiple); congenital myasthenic syndrome 1A; and vasculitis. Biomarker of Alzheimer's disease; Parkinson's disease; Plasmodium falciparum malaria; and acute lymphoblastic leukemia.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: BS-17; calpain inhibitor; MGC9402; PLACK; sperm BS-17 component
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38595,961,429 - 96,774,683 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl596,525,267 - 96,779,595 (+)EnsemblGRCh38hg38GRCh38
GRCh37595,997,741 - 96,110,387 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36596,023,697 - 96,136,143 (+)NCBINCBI36Build 36hg18NCBI36
Build 34596,089,768 - 96,134,279NCBI
Celera591,882,129 - 91,994,809 (+)NCBICelera
Cytogenetic Map5q15NCBI
HuRef591,188,220 - 91,300,638 (+)NCBIHuRef
CHM1_1595,430,442 - 95,543,106 (+)NCBICHM1_1
T2T-CHM13v2.0596,462,750 - 97,275,514 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(1->4)-beta-D-glucan  (ISO)
1,2-dimethylhydrazine  (ISO)
17beta-estradiol  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,6-dinitrotoluene  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
3-methylcholanthrene  (EXP)
3H-1,2-dithiole-3-thione  (ISO)
4,4'-sulfonyldiphenol  (EXP)
4-amino-2,6-dinitrotoluene  (ISO)
4-hydroxyphenyl retinamide  (ISO)
acetamide  (ISO)
acetylleucyl-leucyl-norleucinal  (ISO)
acrolein  (EXP)
aflatoxin B1  (EXP)
all-trans-retinoic acid  (EXP)
alpha-pinene  (EXP)
ammonium chloride  (ISO)
antimycin A  (EXP)
aristolochic acid A  (EXP)
Aroclor 1254  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (EXP)
benzo[a]pyrene  (EXP)
benzo[a]pyrene diol epoxide I  (EXP)
bisphenol A  (EXP,ISO)
bleomycin A2  (ISO)
Brodifacoum  (ISO)
bucladesine  (EXP)
butanal  (EXP)
cadmium dichloride  (ISO)
caffeine  (EXP)
carbon nanotube  (EXP,ISO)
celastrol  (EXP)
CGP 52608  (EXP)
chlorpyrifos  (ISO)
cisplatin  (EXP,ISO)
coumestrol  (EXP)
crocidolite asbestos  (EXP)
cyclosporin A  (EXP,ISO)
deguelin  (EXP)
diallyl disulfide  (EXP)
Diallyl sulfide  (EXP)
dibutyl phthalate  (ISO)
dichlorine  (ISO)
dihydroartemisinin  (EXP)
diuron  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
endosulfan  (ISO)
Enterolactone  (EXP)
entinostat  (EXP)
enzyme inhibitor  (EXP)
ethyl methanesulfonate  (EXP)
etoposide  (EXP)
finasteride  (ISO)
flutamide  (ISO)
formaldehyde  (EXP)
gallic acid  (EXP)
gamma-hexachlorocyclohexane  (ISO)
gentamycin  (ISO)
hydrogen peroxide  (EXP)
ivermectin  (EXP)
L-ascorbic acid  (ISO)
lipopolysaccharide  (ISO)
medroxyprogesterone acetate  (EXP)
Mesaconitine  (ISO)
methapyrilene  (ISO)
methylmercury chloride  (EXP)
methylseleninic acid  (EXP)
microcystin-LR  (ISO)
ozone  (EXP,ISO)
paracetamol  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
phenylmercury acetate  (EXP)
pirinixic acid  (ISO)
piroxicam  (EXP)
potassium dichromate  (EXP)
rotenone  (EXP,ISO)
SB 431542  (EXP)
silicon dioxide  (EXP)
sodium arsenite  (EXP)
succimer  (ISO)
sulindac  (ISO)
tebufenpyrad  (EXP)
temozolomide  (EXP)
tert-butyl hydroperoxide  (EXP)
testosterone  (EXP)
tetrachloromethane  (ISO)
tributylstannane  (ISO)
trichostatin A  (EXP)
valproic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. SNPs in CAST are associated with Parkinson disease: a confirmation study. Allen AS and Satten GA, Am J Med Genet B Neuropsychiatr Genet. 2010 Jun 5;153B(4):973-9.
2. Novel mechanisms of target cell death and survival and of therapeutic action of IVIg in Pemphigus. Arredondo J, etal., Am J Pathol. 2005 Dec;167(6):1531-44.
3. Calpastatin is up-regulated in response to hypoxia and is a suicide substrate to calpain after neonatal cerebral hypoxia-ischemia. Blomgren K, etal., J Biol Chem. 1999 May 14;274(20):14046-52.
4. Identification of novel markers for monitoring minimal residual disease in acute lymphoblastic leukemia. Chen JS, etal., Blood. 2001 Apr 1;97(7):2115-20.
5. Detection and expression of a cDNA clone that encodes a polypeptide containing two inhibitory domains of human calpastatin and its recognition by rheumatoid arthritis sera. Despres N, etal., J Clin Invest. 1995 Apr;95(4):1891-6.
6. Calpain, calpastatin activities and ratios during myocardial ischemia-reperfusion. Enns D, etal., Mol Cell Biochem. 2002 Dec;241(1-2):29-35.
7. Calpain/calpastatin activities and substrate depletion patterns during hindlimb unweighting and reweighting in skeletal muscle. Enns DL, etal., Eur J Appl Physiol. 2007 Jul;100(4):445-55. Epub 2007 Apr 12.
8. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
9. Calpain activation impairs neuromuscular transmission in a mouse model of the slow-channel myasthenic syndrome. Groshong JS, etal., J Clin Invest. 2007 Oct;117(10):2903-12.
10. 3-[2-[4-(3-Chloro-2-methylphenylmethyl)-1-piperazinyl]ethyl]-5,6-dimethoxy -1-(4-imidazolylmethyl)-1H-indazole dihydro-chloride 3.5 hydrate (DY-9760e) is neuroprotective in rat microsphere embolism: role of the cross-talk between calpain and caspase-3 through calpastatin. Han F, etal., J Pharmacol Exp Ther. 2006 May;317(2):529-36. Epub 2006 Feb 8.
11. Calpain activation promotes BACE1 expression, amyloid precursor protein processing, and amyloid plaque formation in a transgenic mouse model of Alzheimer disease. Liang B, etal., J Biol Chem. 2010 Sep 3;285(36):27737-44. Epub 2010 Jul 1.
12. Upregulation of calpastatin in regenerating and developing rat liver: role in resistance against hepatotoxicity. Limaye PB, etal., Hepatology. 2006 Aug;44(2):379-88.
13. Autoantibodies directed against the protease inhibitor calpastatin in psoriasis. Matsushita Y, etal., Clin Exp Immunol. 2005 Feb;139(2):355-62.
14. Cerebral calpain in fatal falciparum malaria. Medana IM, etal., Neuropathol Appl Neurobiol. 2007 Apr;33(2):179-92.
15. Calpastatin immunoreactivity in the monkey and human brain of control subjects and patients with Parkinson's disease. Mouatt-Prigent A, etal., J Comp Neurol. 2000 Apr 3;419(2):175-92.
16. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
17. Marked calpastatin (CAST) depletion in Alzheimer's disease accelerates cytoskeleton disruption and neurodegeneration: neuroprotection by CAST overexpression. Rao MV, etal., J Neurosci. 2008 Nov 19;28(47):12241-54.
18. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
19. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
20. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
21. Effects of injury severity on regional and temporal mRNA expression levels of calpains and caspases after traumatic brain injury in rats. Ringger NC, etal., J Neurotrauma. 2004 Jul;21(7):829-41.
22. Involvement of calpain isoforms in ischemia-reperfusion injury in rat retina. Sakamoto YR, etal., Curr Eye Res. 2000 Jul;21(1):571-80.
23. Autoantibodies recognizing the 27 carboxy-terminal amino acids of calpastatin are associated with secondary Sjogren syndrome in systemic lupus erythematosus. Salle V, etal., Lupus. 2004;13(10):800-4.
24. Autoantibodies directed against the amino-terminal domain I of human calpastatin (ACAST-DI Ab) in connective tissue diseases. High levels of ACAST-DI Ab are associated with vasculitis in lupus. Saulot V, etal., J Autoimmun. 2002 Aug-Sep;19(1-2):55-61.
25. Activation of calpains, calpastatin and spectrin cleavage in the brain during the pathology of fatal murine cerebral malaria. Shukla M, etal., Neurochem Int. 2006 Jan;48(2):108-13. Epub 2005 Oct 19.
26. Neuroprotective actions of aminoguanidine involve reduced the activation of calpain and caspase-3 in a rat model of stroke. Sun M, etal., Neurochem Int. 2010 Mar;56(4):634-41. Epub 2010 Jan 29.
27. Expression of calpastatin, minopontin, NIPSNAP1, rabaptin-5 and neuronatin in the phenylketonuria (PKU) mouse brain: possible role on cognitive defect seen in PKU. Surendran S, etal., Neurochem Int. 2005 Jun;46(8):595-9. Epub 2005 Apr 7.
28. Sepsis stimulates calpain activity in skeletal muscle by decreasing calpastatin activity but does not activate caspase-3. Wei W, etal., Am J Physiol Regul Integr Comp Physiol. 2005 Mar;288(3):R580-90. Epub 2004 Nov 24.
29. [Antigenic epitopes recognized by autoantibodies to calpastatin in patients with rheumatoid arthritis and their clinical significance]. Yasuoka H, etal., Ryumachi. 1997 Jun;37(3):458-66.
Additional References at PubMed
PMID:1569094   PMID:1995645   PMID:2265559   PMID:2407243   PMID:2548504   PMID:2553724   PMID:2559735   PMID:2577276   PMID:2849943   PMID:7638179   PMID:7710300   PMID:7951045  
PMID:7998969   PMID:8340353   PMID:8889548   PMID:9213221   PMID:9705209   PMID:9873017   PMID:10600505   PMID:10731697   PMID:10822276   PMID:10859257   PMID:10942721   PMID:11076863  
PMID:11230166   PMID:11849768   PMID:11978196   PMID:12354790   PMID:12477932   PMID:12482888   PMID:12591934   PMID:12684003   PMID:12923177   PMID:14559243   PMID:14612448   PMID:14685690  
PMID:14702039   PMID:14992597   PMID:15014085   PMID:15044459   PMID:15101818   PMID:15302935   PMID:15489334   PMID:15489336   PMID:15820218   PMID:15950654   PMID:16344560   PMID:16381901  
PMID:17081983   PMID:17137217   PMID:17474147   PMID:17950697   PMID:18165173   PMID:18195134   PMID:18340456   PMID:18498295   PMID:18519038   PMID:18537264   PMID:18544539   PMID:18724972  
PMID:18793761   PMID:18809371   PMID:19020622   PMID:19020623   PMID:19103264   PMID:19322201   PMID:19365859   PMID:19581569   PMID:19756344   PMID:19913121   PMID:20379614   PMID:20628086  
PMID:20679491   PMID:20953190   PMID:21263028   PMID:21424381   PMID:21531560   PMID:21839844   PMID:21873635   PMID:21937422   PMID:21983488   PMID:22046434   PMID:22206846   PMID:22286212  
PMID:22288381   PMID:22572592   PMID:22658674   PMID:22863883   PMID:22939629   PMID:23140395   PMID:23449483   PMID:23684705   PMID:23707532   PMID:23773963   PMID:23951044   PMID:24462690  
PMID:25468996   PMID:25648699   PMID:25683118   PMID:26186194   PMID:26344197   PMID:26496610   PMID:26618866   PMID:26974350   PMID:27626661   PMID:27715410   PMID:28514442   PMID:28515276  
PMID:28611215   PMID:28718761   PMID:29428799   PMID:29507755   PMID:29568061   PMID:29572388   PMID:29791485   PMID:29987050   PMID:30021884   PMID:30448882   PMID:30711629   PMID:30959065  
PMID:31091453   PMID:31392520   PMID:31452512   PMID:31815296   PMID:32786267   PMID:33306668   PMID:33916271   PMID:33961781   PMID:34191270   PMID:34440632   PMID:35384245   PMID:35446349  
PMID:35831314   PMID:35944360   PMID:36114006   PMID:36215168   PMID:36232890   PMID:37387535   PMID:37506885   PMID:37774976  


Genomics

Comparative Map Data
CAST
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38595,961,429 - 96,774,683 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl596,525,267 - 96,779,595 (+)EnsemblGRCh38hg38GRCh38
GRCh37595,997,741 - 96,110,387 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36596,023,697 - 96,136,143 (+)NCBINCBI36Build 36hg18NCBI36
Build 34596,089,768 - 96,134,279NCBI
Celera591,882,129 - 91,994,809 (+)NCBICelera
Cytogenetic Map5q15NCBI
HuRef591,188,220 - 91,300,638 (+)NCBIHuRef
CHM1_1595,430,442 - 95,543,106 (+)NCBICHM1_1
T2T-CHM13v2.0596,462,750 - 97,275,514 (+)NCBIT2T-CHM13v2.0
Cast
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391374,840,485 - 74,956,993 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1374,840,487 - 74,956,929 (-)EnsemblGRCm39 Ensembl
GRCm381374,692,366 - 74,808,874 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1374,692,368 - 74,808,810 (-)EnsemblGRCm38mm10GRCm38
MGSCv371374,831,734 - 74,945,369 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361375,160,288 - 75,273,923 (-)NCBIMGSCv36mm8
Celera1377,024,381 - 77,127,605 (-)NCBICelera
Cytogenetic Map13C1NCBI
cM Map1340.52NCBI
Cast
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.223,973,112 - 4,082,658 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl23,973,112 - 4,082,659 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx211,082,164 - 11,184,562 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.029,181,388 - 9,283,785 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.023,818,359 - 3,927,706 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.021,452,111 - 1,561,669 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl21,452,116 - 1,561,464 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.021,422,022 - 1,530,917 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.421,495,048 - 1,608,477 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.121,497,323 - 1,558,604 (-)NCBI
Celera2468,414 - 578,127 (-)NCBICelera
Cytogenetic Map2q11NCBI
Cast
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541815,862,729 - 15,916,169 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495541815,859,951 - 15,974,141 (-)NCBIChiLan1.0ChiLan1.0
CAST
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1590,064,235 - 90,174,585 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0591,972,572 - 92,084,657 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1597,526,828 - 97,639,645 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl597,527,071 - 97,636,650 (+)Ensemblpanpan1.1panPan2
CAST
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1312,920,514 - 13,031,974 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl312,922,453 - 13,031,959 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha314,260,972 - 14,372,507 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0312,802,911 - 12,914,616 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl312,803,481 - 12,914,611 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1312,764,153 - 12,875,875 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0312,760,328 - 12,871,469 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0312,958,745 - 13,070,416 (-)NCBIUU_Cfam_GSD_1.0
Cast
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024407213168,504,231 - 168,612,822 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365236,686,519 - 6,798,321 (-)EnsemblSpeTri2.0
SpeTri2.0NW_0049365236,688,153 - 6,798,184 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CAST
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl2103,255,750 - 103,378,623 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.12103,255,738 - 103,378,623 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.22106,934,106 - 107,044,360 (+)NCBISscrofa10.2Sscrofa10.2susScr3
Sscrofa10.22107,095,361 - 107,128,389 (+)NCBISscrofa10.2Sscrofa10.2susScr3
Pig Cytomap2q2.1-q2.4NCBI
CAST
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1490,496,867 - 90,607,019 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl490,497,754 - 90,605,481 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604939,150,544 - 39,263,306 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Cast
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474315,346,837 - 15,403,150 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462474315,265,930 - 15,405,904 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CAST
389 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 5q14.3-21.1(chr5:87376883-101524443)x1 copy number loss See cases [RCV000050945] Chr5:87376883..101524443 [GRCh38]
Chr5:86672700..100860147 [GRCh37]
Chr5:86708456..100888046 [NCBI36]
Chr5:5q14.3-21.1
pathogenic
GRCh38/hg38 5q13.3-22.1(chr5:74163186-110809453)x3 copy number gain See cases [RCV000051839] Chr5:74163186..110809453 [GRCh38]
Chr5:73459011..110145153 [GRCh37]
Chr5:73494767..110173052 [NCBI36]
Chr5:5q13.3-22.1
pathogenic
GRCh38/hg38 5q15-22.3(chr5:96454445-114050905)x3 copy number gain See cases [RCV000051841] Chr5:96454445..114050905 [GRCh38]
Chr5:95790149..113386602 [GRCh37]
Chr5:95815905..113414501 [NCBI36]
Chr5:5q15-22.3
pathogenic
GRCh38/hg38 5q15(chr5:93405010-97716265)x3 copy number gain See cases [RCV000053285] Chr5:93405010..97716265 [GRCh38]
Chr5:92740716..97051969 [GRCh37]
Chr5:92766472..97077725 [NCBI36]
Chr5:5q15
uncertain significance
GRCh38/hg38 5q14.3-21.2(chr5:89081352-104687248)x1 copy number loss See cases [RCV000053516] Chr5:89081352..104687248 [GRCh38]
Chr5:88377169..104022949 [GRCh37]
Chr5:88412925..104050848 [NCBI36]
Chr5:5q14.3-21.2
pathogenic
GRCh38/hg38 5q14.3-15(chr5:91386552-98365880)x1 copy number loss See cases [RCV000053519] Chr5:91386552..98365880 [GRCh38]
Chr5:90682369..97701584 [GRCh37]
Chr5:90718125..97729488 [NCBI36]
Chr5:5q14.3-15
pathogenic
GRCh38/hg38 5q14.3-21.1(chr5:85966055-101335711)x1 copy number loss See cases [RCV000135748] Chr5:85966055..101335711 [GRCh38]
Chr5:85261873..100671415 [GRCh37]
Chr5:85297629..100699314 [NCBI36]
Chr5:5q14.3-21.1
pathogenic
GRCh38/hg38 5q14.3-23.3(chr5:90374606-128076423)x1 copy number loss See cases [RCV000139893] Chr5:90374606..128076423 [GRCh38]
Chr5:89670423..127412115 [GRCh37]
Chr5:89706179..127440014 [NCBI36]
Chr5:5q14.3-23.3
pathogenic
GRCh38/hg38 5q14.3-22.1(chr5:84603580-111435081)x1 copy number loss See cases [RCV000139656] Chr5:84603580..111435081 [GRCh38]
Chr5:83899398..110770779 [GRCh37]
Chr5:83935154..110798678 [NCBI36]
Chr5:5q14.3-22.1
pathogenic
GRCh38/hg38 5q14.3-23.1(chr5:92899734-119614119)x1 copy number loss See cases [RCV000141252] Chr5:92899734..119614119 [GRCh38]
Chr5:92235441..118949814 [GRCh37]
Chr5:92261197..118977713 [NCBI36]
Chr5:5q14.3-23.1
pathogenic
GRCh38/hg38 5q15-22.2(chr5:93193104-113287795)x1 copy number loss See cases [RCV000143249] Chr5:93193104..113287795 [GRCh38]
Chr5:92528810..112623492 [GRCh37]
Chr5:92554566..112651391 [NCBI36]
Chr5:5q15-22.2
pathogenic
GRCh38/hg38 5q14.3-31.1(chr5:91411708-131319563)x1 copy number loss See cases [RCV000143746] Chr5:91411708..131319563 [GRCh38]
Chr5:90707525..130655256 [GRCh37]
Chr5:90743281..130683155 [NCBI36]
Chr5:5q14.3-31.1
pathogenic
NM_001750.7(CAST):c.730dup (p.Ile244fs) duplication Peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome [RCV000169750] Chr5:96737877..96737878 [GRCh38]
Chr5:96073581..96073582 [GRCh37]
Chr5:5q15
pathogenic|not provided
NM_001750.7(CAST):c.1873del (p.Val625fs) deletion Peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome [RCV000169752] Chr5:96762313 [GRCh38]
Chr5:96098017 [GRCh37]
Chr5:5q15
pathogenic|not provided
NM_001750.7(CAST):c.547A>T (p.Lys183Ter) single nucleotide variant Peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome [RCV000169751] Chr5:96729723 [GRCh38]
Chr5:96065427 [GRCh37]
Chr5:5q15
pathogenic|not provided
GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3 copy number gain not provided [RCV000487658] Chr5:94844077..178830410 [GRCh37]
Chr5:5q15-35.3
likely benign
NM_001750.7(CAST):c.1472G>C (p.Cys491Ser) single nucleotide variant Peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome [RCV001554830]|not provided [RCV001709743] Chr5:96750630 [GRCh38]
Chr5:96086334 [GRCh37]
Chr5:5q15
benign
NM_001750.7(CAST):c.2041A>G (p.Lys681Glu) single nucleotide variant Inborn genetic diseases [RCV003200573] Chr5:96766056 [GRCh38]
Chr5:96101760 [GRCh37]
Chr5:5q15
uncertain significance
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) copy number gain See cases [RCV000510723] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
NM_001750.7(CAST):c.2037+26_2037+28del deletion not provided [RCV001692099]|not specified [RCV000454841] Chr5:96765328..96765330 [GRCh38]
Chr5:96101032..96101034 [GRCh37]
Chr5:5q15
benign
NC_000005.9:g.(?_86400000)_(154000000_?)del deletion Familial adenomatous polyposis 1 [RCV002231249]|Hereditary cancer-predisposing syndrome [RCV000554476] Chr5:86400000..154000000 [GRCh37]
Chr5:5q14.3-33.2
pathogenic
GRCh37/hg19 5q15-21.2(chr5:95049966-103537589)x1 copy number loss See cases [RCV000510548] Chr5:95049966..103537589 [GRCh37]
Chr5:5q15-21.2
likely pathogenic
GRCh37/hg19 5q15(chr5:95344459-96069761)x3 copy number gain See cases [RCV000510669] Chr5:95344459..96069761 [GRCh37]
Chr5:5q15
uncertain significance
GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1 copy number loss See cases [RCV000511978] Chr5:17628741..176575720 [GRCh37]
Chr5:5p15.1-q35.2
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3 copy number gain See cases [RCV000512039] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
NM_001750.7(CAST):c.2032G>C (p.Val678Leu) single nucleotide variant Inborn genetic diseases [RCV003256706] Chr5:96765320 [GRCh38]
Chr5:96101024 [GRCh37]
Chr5:5q15
uncertain significance
GRCh37/hg19 5q14.3-21.3(chr5:91504101-104858348)x1 copy number loss not provided [RCV000682580] Chr5:91504101..104858348 [GRCh37]
Chr5:5q14.3-21.3
pathogenic
NM_001750.7(CAST):c.1626+111A>G single nucleotide variant not provided [RCV001540306] Chr5:96754272 [GRCh38]
Chr5:96089976 [GRCh37]
Chr5:5q15
benign
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3 copy number gain not provided [RCV000744323] Chr5:25328..180693344 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3 copy number gain not provided [RCV000744317] Chr5:13648..180905029 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
NM_001750.7(CAST):c.1332+246A>T single nucleotide variant not provided [RCV001610228] Chr5:96747638 [GRCh38]
Chr5:96083342 [GRCh37]
Chr5:5q15
benign
NM_001750.7(CAST):c.168A>G (p.Gln56=) single nucleotide variant Peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome [RCV001554829]|not provided [RCV001615332] Chr5:96695865 [GRCh38]
Chr5:96031569 [GRCh37]
Chr5:5q15
benign
NM_001750.7(CAST):c.1525-106G>A single nucleotide variant Peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome [RCV001554831]|not provided [RCV001685529] Chr5:96753954 [GRCh38]
Chr5:96089658 [GRCh37]
Chr5:5q15
benign
NM_001750.7(CAST):c.631-96A>G single nucleotide variant not provided [RCV001690503] Chr5:96736076 [GRCh38]
Chr5:96071780 [GRCh37]
Chr5:5q15
benign
NM_001750.7(CAST):c.76-220T>C single nucleotide variant not provided [RCV001609531] Chr5:96675319 [GRCh38]
Chr5:96011023 [GRCh37]
Chr5:5q15
benign
NM_001750.7(CAST):c.1835A>G (p.Lys612Arg) single nucleotide variant not provided [RCV000881207] Chr5:96762275 [GRCh38]
Chr5:96097979 [GRCh37]
Chr5:5q15
benign
NM_001750.7(CAST):c.663G>T (p.Val221=) single nucleotide variant not provided [RCV000965688] Chr5:96736204 [GRCh38]
Chr5:96071908 [GRCh37]
Chr5:5q15
benign
NM_001750.7(CAST):c.2103C>T (p.Tyr701=) single nucleotide variant not provided [RCV000965689] Chr5:96766118 [GRCh38]
Chr5:96101822 [GRCh37]
Chr5:5q15
benign
NM_001750.7(CAST):c.378+9T>C single nucleotide variant not provided [RCV000893553] Chr5:96727539 [GRCh38]
Chr5:96063243 [GRCh37]
Chr5:5q15
benign
NM_001750.7(CAST):c.1178G>A (p.Arg393His) single nucleotide variant Inborn genetic diseases [RCV002548372]|not provided [RCV000973370] Chr5:96742734 [GRCh38]
Chr5:96078438 [GRCh37]
Chr5:5q15
likely benign|uncertain significance
NM_001750.7(CAST):c.477C>T (p.Asn159=) single nucleotide variant not provided [RCV000929369] Chr5:96729653 [GRCh38]
Chr5:96065357 [GRCh37]
Chr5:5q15
likely benign
NM_001750.7(CAST):c.2181T>G (p.Pro727=) single nucleotide variant not provided [RCV000880240] Chr5:96767912 [GRCh38]
Chr5:96103616 [GRCh37]
Chr5:5q15
benign
NM_001750.7(CAST):c.1283C>T (p.Thr428Met) single nucleotide variant not provided [RCV000973371] Chr5:96746424 [GRCh38]
Chr5:96082128 [GRCh37]
Chr5:5q15
benign
NM_001750.7(CAST):c.693G>A (p.Ser231=) single nucleotide variant not provided [RCV000888228] Chr5:96736234 [GRCh38]
Chr5:96071938 [GRCh37]
Chr5:5q15
benign
GRCh37/hg19 5q15(chr5:96097916-96840263)x3 copy number gain not provided [RCV000848397] Chr5:96097916..96840263 [GRCh37]
Chr5:5q15
uncertain significance
NM_001750.7(CAST):c.1834-130T>C single nucleotide variant not provided [RCV001643506] Chr5:96762144 [GRCh38]
Chr5:96097848 [GRCh37]
Chr5:5q15
benign
Single allele deletion Neurodevelopmental disorder [RCV000787436] Chr5:14685137..149511942 [GRCh37]
Chr5:5p15.2-q32
uncertain significance
GRCh37/hg19 5q15(chr5:95335480-97832367)x3 copy number gain not provided [RCV000848836] Chr5:95335480..97832367 [GRCh37]
Chr5:5q15
uncertain significance
GRCh37/hg19 5q13.2-15(chr5:72790061-97478870)x3 copy number gain not provided [RCV001005683] Chr5:72790061..97478870 [GRCh37]
Chr5:5q13.2-15
pathogenic
GRCh37/hg19 5q14.3-23.3(chr5:89949118-129317455)x3 copy number gain not provided [RCV000849289] Chr5:89949118..129317455 [GRCh37]
Chr5:5q14.3-23.3
pathogenic
NM_001750.7(CAST):c.694G>T (p.Gly232Ter) single nucleotide variant not provided [RCV003312628] Chr5:96736235 [GRCh38]
Chr5:96071939 [GRCh37]
Chr5:5q15
pathogenic
NM_001750.7(CAST):c.1711-137C>T single nucleotide variant not provided [RCV001715507] Chr5:96757307 [GRCh38]
Chr5:96093011 [GRCh37]
Chr5:5q15
benign
NM_001750.7(CAST):c.699+219AAAC[2] microsatellite not provided [RCV001534122] Chr5:96736459..96736462 [GRCh38]
Chr5:96072163..96072166 [GRCh37]
Chr5:5q15
benign
NM_001750.7(CAST):c.1332+242C>T single nucleotide variant not provided [RCV001651670] Chr5:96747634 [GRCh38]
Chr5:96083338 [GRCh37]
Chr5:5q15
benign
NM_001750.7(CAST):c.549+207A>G single nucleotide variant not provided [RCV001709976] Chr5:96729932 [GRCh38]
Chr5:96065636 [GRCh37]
Chr5:5q15
benign
NM_001750.7(CAST):c.2268+96C>G single nucleotide variant not provided [RCV001618163] Chr5:96768095 [GRCh38]
Chr5:96103799 [GRCh37]
Chr5:5q15
benign
NM_001750.7(CAST):c.2037+191A>G single nucleotide variant not provided [RCV001674365] Chr5:96765516 [GRCh38]
Chr5:96101220 [GRCh37]
Chr5:5q15
benign
NM_001750.7(CAST):c.2130+225= single nucleotide variant not provided [RCV001620425] Chr5:96766370 [GRCh38]
Chr5:96102074 [GRCh37]
Chr5:5q15
benign
NM_001750.7(CAST):c.1761+24G>A single nucleotide variant not provided [RCV001639992] Chr5:96757518 [GRCh38]
Chr5:96093222 [GRCh37]
Chr5:5q15
benign
NM_001750.7(CAST):c.2130+110C>T single nucleotide variant not provided [RCV001714760] Chr5:96766255 [GRCh38]
Chr5:96101959 [GRCh37]
Chr5:5q15
benign
NM_001750.7(CAST):c.2037+27_2037+28del deletion not provided [RCV001609462] Chr5:96765328..96765329 [GRCh38]
Chr5:96101032..96101033 [GRCh37]
Chr5:5q15
benign
NM_001750.7(CAST):c.918G>A (p.Ser306=) single nucleotide variant not provided [RCV001685339] Chr5:96740783 [GRCh38]
Chr5:96076487 [GRCh37]
Chr5:5q15
benign
NM_001750.7(CAST):c.75+190C>T single nucleotide variant not provided [RCV001644325] Chr5:96662687 [GRCh38]
Chr5:95998391 [GRCh37]
Chr5:5q15
benign
NM_001750.7(CAST):c.379-224A>C single nucleotide variant not provided [RCV001724620] Chr5:96728929 [GRCh38]
Chr5:96064633 [GRCh37]
Chr5:5q15
benign
NM_001750.7(CAST):c.1711-10C>T single nucleotide variant not provided [RCV001644443] Chr5:96757434 [GRCh38]
Chr5:96093138 [GRCh37]
Chr5:5q15
benign
NM_001750.7(CAST):c.630+88C>T single nucleotide variant not provided [RCV001667796] Chr5:96730948 [GRCh38]
Chr5:96066652 [GRCh37]
Chr5:5q15
benign
NM_001750.7(CAST):c.2341-326C>T single nucleotide variant not provided [RCV001715006] Chr5:96771318 [GRCh38]
Chr5:96107022 [GRCh37]
Chr5:5q15
benign
NM_001750.7(CAST):c.1859C>T (p.Ala620Val) single nucleotide variant not provided [RCV000966953] Chr5:96762299 [GRCh38]
Chr5:96098003 [GRCh37]
Chr5:5q15
benign
NM_001750.7(CAST):c.1242T>A (p.Asp414Glu) single nucleotide variant not provided [RCV000883195] Chr5:96746383 [GRCh38]
Chr5:96082087 [GRCh37]
Chr5:5q15
benign
NM_001750.7(CAST):c.1207G>C (p.Ala403Pro) single nucleotide variant Peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome [RCV002489424]|not provided [RCV000974062] Chr5:96746348 [GRCh38]
Chr5:96082052 [GRCh37]
Chr5:5q15
benign
NM_001750.7(CAST):c.2292C>T (p.Ser764=) single nucleotide variant not provided [RCV000910365] Chr5:96770554 [GRCh38]
Chr5:96106258 [GRCh37]
Chr5:5q15
likely benign
NM_001750.7(CAST):c.1933-3C>T single nucleotide variant not provided [RCV000888982] Chr5:96765218 [GRCh38]
Chr5:96100922 [GRCh37]
Chr5:5q15
benign
NM_001750.7(CAST):c.1525-45G>A single nucleotide variant not provided [RCV001677402] Chr5:96754015 [GRCh38]
Chr5:96089719 [GRCh37]
Chr5:5q15
benign
NM_001750.7(CAST):c.631-35A>G single nucleotide variant not provided [RCV001595539] Chr5:96736137 [GRCh38]
Chr5:96071841 [GRCh37]
Chr5:5q15
benign
NM_001750.7(CAST):c.1932+68G>A single nucleotide variant not provided [RCV001641381] Chr5:96762440 [GRCh38]
Chr5:96098144 [GRCh37]
Chr5:5q15
benign
NM_001750.7(CAST):c.2038-237_2038-234del deletion not provided [RCV001620219] Chr5:96765815..96765818 [GRCh38]
Chr5:96101519..96101522 [GRCh37]
Chr5:5q15
benign
NM_001750.7(CAST):c.1524+232C>G single nucleotide variant not provided [RCV001658681] Chr5:96750914 [GRCh38]
Chr5:96086618 [GRCh37]
Chr5:5q15
benign
NM_001750.7(CAST):c.630+12C>G single nucleotide variant not provided [RCV001636392] Chr5:96730872 [GRCh38]
Chr5:96066576 [GRCh37]
Chr5:5q15
benign
NM_001750.7(CAST):c.75+271G>A single nucleotide variant not provided [RCV001677101] Chr5:96662768 [GRCh38]
Chr5:95998472 [GRCh37]
Chr5:5q15
benign
NM_001750.7(CAST):c.550-118C>A single nucleotide variant not provided [RCV001675570] Chr5:96730662 [GRCh38]
Chr5:96066366 [GRCh37]
Chr5:5q15
benign
NM_001750.7(CAST):c.549+233C>T single nucleotide variant not provided [RCV001675327] Chr5:96729958 [GRCh38]
Chr5:96065662 [GRCh37]
Chr5:5q15
benign
NM_001750.7(CAST):c.2130+95A>G single nucleotide variant not provided [RCV001688446] Chr5:96766240 [GRCh38]
Chr5:96101944 [GRCh37]
Chr5:5q15
benign
NM_001750.7(CAST):c.1099-22C>G single nucleotide variant not provided [RCV001597611] Chr5:96742633 [GRCh38]
Chr5:96078337 [GRCh37]
Chr5:5q15
benign
NM_001750.7(CAST):c.1933-161G>C single nucleotide variant not provided [RCV001598081] Chr5:96765060 [GRCh38]
Chr5:96100764 [GRCh37]
Chr5:5q15
benign
NM_001750.7(CAST):c.699+213A>T single nucleotide variant not provided [RCV001617145] Chr5:96736453 [GRCh38]
Chr5:96072157 [GRCh37]
Chr5:5q15
benign
NM_001750.7(CAST):c.2341-146G>T single nucleotide variant not provided [RCV001595518] Chr5:96771498 [GRCh38]
Chr5:96107202 [GRCh37]
Chr5:5q15
benign
NM_001750.7(CAST):c.1834-83T>G single nucleotide variant not provided [RCV001685972] Chr5:96762191 [GRCh38]
Chr5:96097895 [GRCh37]
Chr5:5q15
benign
NM_001750.7(CAST):c.2176-22G>A single nucleotide variant not provided [RCV001710813] Chr5:96767885 [GRCh38]
Chr5:96103589 [GRCh37]
Chr5:5q15
benign
NM_001750.7(CAST):c.75+165_75+166insAGCAGGTGGCTGCAGGTGGC insertion not provided [RCV001686939] Chr5:96662653..96662654 [GRCh38]
Chr5:95998357..95998358 [GRCh37]
Chr5:5q15
benign
NM_001750.7(CAST):c.1833+83C>T single nucleotide variant not provided [RCV001676669] Chr5:96757737 [GRCh38]
Chr5:96093441 [GRCh37]
Chr5:5q15
benign
NM_001750.7(CAST):c.1525-253C>T single nucleotide variant not provided [RCV001676157] Chr5:96753807 [GRCh38]
Chr5:96089511 [GRCh37]
Chr5:5q15
benign
NM_001750.7(CAST):c.1525-125C>G single nucleotide variant not provided [RCV001689056] Chr5:96753935 [GRCh38]
Chr5:96089639 [GRCh37]
Chr5:5q15
benign
NM_001750.7(CAST):c.378+268A>G single nucleotide variant not provided [RCV001674213] Chr5:96727798 [GRCh38]
Chr5:96063502 [GRCh37]
Chr5:5q15
benign
NM_001750.7(CAST):c.1428+114G>A single nucleotide variant not provided [RCV001698895] Chr5:96748727 [GRCh38]
Chr5:96084431 [GRCh37]
Chr5:5q15
benign
NM_001750.7(CAST):c.1711-158A>G single nucleotide variant not provided [RCV001671044] Chr5:96757286 [GRCh38]
Chr5:96092990 [GRCh37]
Chr5:5q15
benign
NM_001750.7(CAST):c.2037+197G>A single nucleotide variant not provided [RCV001641198] Chr5:96765522 [GRCh38]
Chr5:96101226 [GRCh37]
Chr5:5q15
benign
GRCh37/hg19 5q14.3-21.3(chr5:87792844-109221844)x3 copy number gain See cases [RCV001007415] Chr5:87792844..109221844 [GRCh37]
Chr5:5q14.3-21.3
likely pathogenic
NM_001750.7(CAST):c.2175+166C>T single nucleotide variant not provided [RCV001684200] Chr5:96767648 [GRCh38]
Chr5:96103352 [GRCh37]
Chr5:5q15
benign
NM_001750.7(CAST):c.1200+82C>T single nucleotide variant not provided [RCV001708403] Chr5:96742838 [GRCh38]
Chr5:96078542 [GRCh37]
Chr5:5q15
benign
NM_001750.7(CAST):c.270+237TTGTT[6] microsatellite not provided [RCV001680519] Chr5:96722934..96722935 [GRCh38]
Chr5:96058638..96058639 [GRCh37]
Chr5:5q15
benign
NM_001750.7(CAST):c.336+54C>T single nucleotide variant not provided [RCV001710683] Chr5:96726913 [GRCh38]
Chr5:96062617 [GRCh37]
Chr5:5q15
benign
NM_001750.7(CAST):c.2037+38dup duplication not provided [RCV001652132] Chr5:96765362..96765363 [GRCh38]
Chr5:96101066..96101067 [GRCh37]
Chr5:5q15
benign
NM_001750.7(CAST):c.210+216G>T single nucleotide variant not provided [RCV001693998] Chr5:96696123 [GRCh38]
Chr5:96031827 [GRCh37]
Chr5:5q15
benign
NM_001750.7(CAST):c.337-236T>C single nucleotide variant not provided [RCV001669384] Chr5:96727253 [GRCh38]
Chr5:96062957 [GRCh37]
Chr5:5q15
benign
NC_000005.10:g.96661874_96661875insCAGA insertion not provided [RCV001713708] Chr5:96661873..96661874 [GRCh38]
Chr5:95997577..95997578 [GRCh37]
Chr5:5q15
benign
NM_001750.7(CAST):c.1201-221G>T single nucleotide variant not provided [RCV001648720] Chr5:96746121 [GRCh38]
Chr5:96081825 [GRCh37]
Chr5:5q15
benign
NM_001750.7(CAST):c.1099-50G>A single nucleotide variant not provided [RCV001647754] Chr5:96742605 [GRCh38]
Chr5:96078309 [GRCh37]
Chr5:5q15
benign
NM_001750.7(CAST):c.1833+31T>C single nucleotide variant not provided [RCV001614030] Chr5:96757685 [GRCh38]
Chr5:96093389 [GRCh37]
Chr5:5q15
benign
NM_001750.7(CAST):c.1974dup (p.Asp659Ter) duplication Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads [RCV001334710] Chr5:96765261..96765262 [GRCh38]
Chr5:96100965..96100966 [GRCh37]
Chr5:5q15
pathogenic
NM_001750.7(CAST):c.139-254A>G single nucleotide variant not provided [RCV001534767] Chr5:96695582 [GRCh38]
Chr5:96031286 [GRCh37]
Chr5:5q15
benign
NM_001750.7(CAST):c.1932+138G>A single nucleotide variant not provided [RCV001536475] Chr5:96762510 [GRCh38]
Chr5:96098214 [GRCh37]
Chr5:5q15
benign
NM_001750.7(CAST):c.379-142A>T single nucleotide variant not provided [RCV001650342] Chr5:96729011 [GRCh38]
Chr5:96064715 [GRCh37]
Chr5:5q15
benign
NM_001750.7(CAST):c.1200+242A>G single nucleotide variant not provided [RCV001675501] Chr5:96742998 [GRCh38]
Chr5:96078702 [GRCh37]
Chr5:5q15
benign
NM_001750.7(CAST):c.75+157GCAGGTGGCT[3] microsatellite not provided [RCV001649592] Chr5:96662653..96662654 [GRCh38]
Chr5:95998357..95998358 [GRCh37]
Chr5:5q15
benign
NM_001750.7(CAST):c.2131-32A>G single nucleotide variant not provided [RCV001708493] Chr5:96767406 [GRCh38]
Chr5:96103110 [GRCh37]
Chr5:5q15
benign
NM_001750.7(CAST):c.1284+272C>T single nucleotide variant not provided [RCV001650026] Chr5:96746697 [GRCh38]
Chr5:96082401 [GRCh37]
Chr5:5q15
benign
NM_000439.5(PCSK1):c.1013G>T (p.Gly338Val) single nucleotide variant not provided [RCV002224477] Chr5:96410856 [GRCh38]
Chr5:95746560 [GRCh37]
Chr5:5q15
uncertain significance
NM_001750.7(CAST):c.820A>G (p.Ile274Val) single nucleotide variant not provided [RCV001891818] Chr5:96740059 [GRCh38]
Chr5:96075763 [GRCh37]
Chr5:5q15
uncertain significance
GRCh37/hg19 5q15-22.3(chr5:93650000-114969108) copy number loss not specified [RCV002053511] Chr5:93650000..114969108 [GRCh37]
Chr5:5q15-22.3
pathogenic
NM_001750.7(CAST):c.887A>G (p.Glu296Gly) single nucleotide variant Inborn genetic diseases [RCV003355787]|not provided [RCV002038492] Chr5:96740752 [GRCh38]
Chr5:96076456 [GRCh37]
Chr5:5q15
uncertain significance
NM_001750.7(CAST):c.986C>G (p.Ala329Gly) single nucleotide variant Inborn genetic diseases [RCV002563362]|not provided [RCV001957941] Chr5:96741333 [GRCh38]
Chr5:96077037 [GRCh37]
Chr5:5q15
uncertain significance
NM_001750.7(CAST):c.568A>G (p.Ile190Val) single nucleotide variant Inborn genetic diseases [RCV002608059]|not provided [RCV002010206] Chr5:96730798 [GRCh38]
Chr5:96066502 [GRCh37]
Chr5:5q15
likely benign|uncertain significance
NM_001750.7(CAST):c.1555G>A (p.Ala519Thr) single nucleotide variant not provided [RCV001972880] Chr5:96754090 [GRCh38]
Chr5:96089794 [GRCh37]
Chr5:5q15
uncertain significance
NM_001750.7(CAST):c.1133C>T (p.Ser378Leu) single nucleotide variant not provided [RCV002185489] Chr5:96742689 [GRCh38]
Chr5:96078393 [GRCh37]
Chr5:5q15
likely benign
NM_001750.7(CAST):c.775A>G (p.Thr259Ala) single nucleotide variant not provided [RCV002186923] Chr5:96737924 [GRCh38]
Chr5:96073628 [GRCh37]
Chr5:5q15
benign
NM_001750.7(CAST):c.2325G>A (p.Ala775=) single nucleotide variant not provided [RCV002148112] Chr5:96770587 [GRCh38]
Chr5:96106291 [GRCh37]
Chr5:5q15
likely benign
NM_001750.7(CAST):c.1441G>A (p.Ala481Thr) single nucleotide variant Peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome [RCV002500106]|not provided [RCV002076030] Chr5:96750599 [GRCh38]
Chr5:96086303 [GRCh37]
Chr5:5q15
benign
NM_001750.7(CAST):c.2341-19G>A single nucleotide variant not provided [RCV002119918] Chr5:96771625 [GRCh38]
Chr5:96107329 [GRCh37]
Chr5:5q15
benign
NM_001750.7(CAST):c.925A>C (p.Ile309Leu) single nucleotide variant not provided [RCV002188851] Chr5:96741272 [GRCh38]
Chr5:96076976 [GRCh37]
Chr5:5q15
benign
NM_001750.7(CAST):c.978G>A (p.Ser326=) single nucleotide variant not provided [RCV002097534] Chr5:96741325 [GRCh38]
Chr5:96077029 [GRCh37]
Chr5:5q15
likely benign
NM_001750.7(CAST):c.2037+15A>G single nucleotide variant not provided [RCV002124070] Chr5:96765340 [GRCh38]
Chr5:96101044 [GRCh37]
Chr5:5q15
benign
NM_001750.7(CAST):c.1012-15T>C single nucleotide variant not provided [RCV002215093] Chr5:96741479 [GRCh38]
Chr5:96077183 [GRCh37]
Chr5:5q15
benign
NM_001750.7(CAST):c.631-15C>A single nucleotide variant not provided [RCV002189951] Chr5:96736157 [GRCh38]
Chr5:96071861 [GRCh37]
Chr5:5q15
likely benign
NM_001750.7(CAST):c.1626+10A>G single nucleotide variant not provided [RCV002170597] Chr5:96754171 [GRCh38]
Chr5:96089875 [GRCh37]
Chr5:5q15
likely benign
NM_001750.7(CAST):c.1711-12C>T single nucleotide variant not provided [RCV002073512] Chr5:96757432 [GRCh38]
Chr5:96093136 [GRCh37]
Chr5:5q15
likely benign
NM_001750.7(CAST):c.516A>G (p.Glu172=) single nucleotide variant not provided [RCV002095610] Chr5:96729692 [GRCh38]
Chr5:96065396 [GRCh37]
Chr5:5q15
likely benign
NM_001750.7(CAST):c.558A>G (p.Pro186=) single nucleotide variant not provided [RCV002115965] Chr5:96730788 [GRCh38]
Chr5:96066492 [GRCh37]
Chr5:5q15
benign
NM_001750.7(CAST):c.963C>T (p.Asp321=) single nucleotide variant not provided [RCV002198488] Chr5:96741310 [GRCh38]
Chr5:96077014 [GRCh37]
Chr5:5q15
benign
NM_001750.7(CAST):c.1099-6T>C single nucleotide variant not provided [RCV002099165] Chr5:96742649 [GRCh38]
Chr5:96078353 [GRCh37]
Chr5:5q15
likely benign
NM_001750.7(CAST):c.270+19_270+33del deletion not provided [RCV002142930] Chr5:96722709..96722723 [GRCh38]
Chr5:96058413..96058427 [GRCh37]
Chr5:5q15
likely benign
NM_001750.7(CAST):c.1428+17A>T single nucleotide variant not provided [RCV002177481] Chr5:96748630 [GRCh38]
Chr5:96084334 [GRCh37]
Chr5:5q15
likely benign
NC_000005.9:g.(?_94800311)_(96107383_?)del deletion not provided [RCV003116754] Chr5:94800311..96107383 [GRCh37]
Chr5:5q15
pathogenic
NC_000005.9:g.(?_95998127)_(96107383_?)del deletion not provided [RCV003122403] Chr5:95998127..96107383 [GRCh37]
Chr5:5q15
pathogenic
NM_000439.5(PCSK1):c.2053C>T (p.Pro685Ser) single nucleotide variant not provided [RCV003238716] Chr5:96393210 [GRCh38]
Chr5:95728914 [GRCh37]
Chr5:5q15
uncertain significance
NM_001750.7(CAST):c.167_168delinsGG (p.Gln56Arg) indel not provided [RCV002685897] Chr5:96695864..96695865 [GRCh38]
Chr5:96031568..96031569 [GRCh37]
Chr5:5q15
uncertain significance
NM_001750.7(CAST):c.1597G>A (p.Asp533Asn) single nucleotide variant Inborn genetic diseases [RCV002687850] Chr5:96754132 [GRCh38]
Chr5:96089836 [GRCh37]
Chr5:5q15
uncertain significance
NM_001750.7(CAST):c.2193A>T (p.Gln731His) single nucleotide variant Inborn genetic diseases [RCV002771579]|not provided [RCV002806237] Chr5:96767924 [GRCh38]
Chr5:96103628 [GRCh37]
Chr5:5q15
uncertain significance
NM_001750.7(CAST):c.1200+4C>T single nucleotide variant not provided [RCV002794999] Chr5:96742760 [GRCh38]
Chr5:96078464 [GRCh37]
Chr5:5q15
uncertain significance
NM_001750.7(CAST):c.1649G>A (p.Arg550His) single nucleotide variant Inborn genetic diseases [RCV002688356] Chr5:96754680 [GRCh38]
Chr5:96090384 [GRCh37]
Chr5:5q15
uncertain significance
NM_001750.7(CAST):c.1088A>G (p.Lys363Arg) single nucleotide variant Inborn genetic diseases [RCV002901650] Chr5:96741570 [GRCh38]
Chr5:96077274 [GRCh37]
Chr5:5q15
uncertain significance
NM_001750.7(CAST):c.1276C>T (p.Pro426Ser) single nucleotide variant Inborn genetic diseases [RCV002684800] Chr5:96746417 [GRCh38]
Chr5:96082121 [GRCh37]
Chr5:5q15
uncertain significance
NM_001750.7(CAST):c.943A>G (p.Ile315Val) single nucleotide variant Inborn genetic diseases [RCV002694402] Chr5:96741290 [GRCh38]
Chr5:96076994 [GRCh37]
Chr5:5q15
uncertain significance
NM_001750.7(CAST):c.1837T>C (p.Phe613Leu) single nucleotide variant Inborn genetic diseases [RCV002738866] Chr5:96762277 [GRCh38]
Chr5:96097981 [GRCh37]
Chr5:5q15
uncertain significance
NM_001750.7(CAST):c.648A>G (p.Ser216=) single nucleotide variant not provided [RCV002663148] Chr5:96736189 [GRCh38]
Chr5:96071893 [GRCh37]
Chr5:5q15
likely benign
NM_001750.7(CAST):c.1937G>A (p.Ser646Asn) single nucleotide variant not provided [RCV002953366] Chr5:96765225 [GRCh38]
Chr5:96100929 [GRCh37]
Chr5:5q15
likely benign
NM_001750.7(CAST):c.2185G>A (p.Asp729Asn) single nucleotide variant Inborn genetic diseases [RCV002704219] Chr5:96767916 [GRCh38]
Chr5:96103620 [GRCh37]
Chr5:5q15
uncertain significance
NM_001750.7(CAST):c.917C>T (p.Ser306Leu) single nucleotide variant Inborn genetic diseases [RCV003250619]|not provided [RCV002909760] Chr5:96740782 [GRCh38]
Chr5:96076486 [GRCh37]
Chr5:5q15
likely benign|uncertain significance
NM_001750.7(CAST):c.1833+14T>C single nucleotide variant not provided [RCV002795555] Chr5:96757668 [GRCh38]
Chr5:96093372 [GRCh37]
Chr5:5q15
benign
NM_001750.7(CAST):c.1280C>T (p.Ala427Val) single nucleotide variant Inborn genetic diseases [RCV002783743] Chr5:96746421 [GRCh38]
Chr5:96082125 [GRCh37]
Chr5:5q15
uncertain significance
NM_001750.7(CAST):c.1315C>G (p.Pro439Ala) single nucleotide variant Inborn genetic diseases [RCV002868926] Chr5:96747375 [GRCh38]
Chr5:96083079 [GRCh37]
Chr5:5q15
uncertain significance
NM_001750.7(CAST):c.1284+10T>C single nucleotide variant not provided [RCV003002113] Chr5:96746435 [GRCh38]
Chr5:96082139 [GRCh37]
Chr5:5q15
likely benign
NM_001750.7(CAST):c.1898C>T (p.Thr633Met) single nucleotide variant not provided [RCV002982479] Chr5:96762338 [GRCh38]
Chr5:96098042 [GRCh37]
Chr5:5q15
uncertain significance
NM_001750.7(CAST):c.1355T>C (p.Ile452Thr) single nucleotide variant Inborn genetic diseases [RCV002666493] Chr5:96748540 [GRCh38]
Chr5:96084244 [GRCh37]
Chr5:5q15
uncertain significance
NM_001750.7(CAST):c.74A>C (p.Glu25Ala) single nucleotide variant not provided [RCV002572734] Chr5:96662496 [GRCh38]
Chr5:95998200 [GRCh37]
Chr5:5q15
uncertain significance
NM_001750.7(CAST):c.1852C>T (p.Leu618Phe) single nucleotide variant Inborn genetic diseases [RCV002804360] Chr5:96762292 [GRCh38]
Chr5:96097996 [GRCh37]
Chr5:5q15
uncertain significance
NM_001750.7(CAST):c.479A>T (p.Asp160Val) single nucleotide variant Inborn genetic diseases [RCV002914692]|not provided [RCV002914691] Chr5:96729655 [GRCh38]
Chr5:96065359 [GRCh37]
Chr5:5q15
uncertain significance
NM_001750.7(CAST):c.1429-17del deletion not provided [RCV003049236] Chr5:96750570 [GRCh38]
Chr5:96086274 [GRCh37]
Chr5:5q15
likely benign
NM_001750.7(CAST):c.358AAG[1] (p.Lys121del) microsatellite not provided [RCV002632725] Chr5:96727508..96727510 [GRCh38]
Chr5:96063212..96063214 [GRCh37]
Chr5:5q15
uncertain significance
NM_001750.7(CAST):c.1949T>C (p.Leu650Pro) single nucleotide variant Inborn genetic diseases [RCV002877864] Chr5:96765237 [GRCh38]
Chr5:96100941 [GRCh37]
Chr5:5q15
uncertain significance
NM_001750.7(CAST):c.1183A>G (p.Ile395Val) single nucleotide variant not provided [RCV002716332] Chr5:96742739 [GRCh38]
Chr5:96078443 [GRCh37]
Chr5:5q15
uncertain significance
NM_001750.7(CAST):c.965T>A (p.Phe322Tyr) single nucleotide variant Inborn genetic diseases [RCV002939671] Chr5:96741312 [GRCh38]
Chr5:96077016 [GRCh37]
Chr5:5q15
uncertain significance
NM_001750.7(CAST):c.1648C>G (p.Arg550Gly) single nucleotide variant Inborn genetic diseases [RCV002718680] Chr5:96754679 [GRCh38]
Chr5:96090383 [GRCh37]
Chr5:5q15
uncertain significance
NM_001750.7(CAST):c.1755G>A (p.Gln585=) single nucleotide variant not provided [RCV002921900] Chr5:96757488 [GRCh38]
Chr5:96093192 [GRCh37]
Chr5:5q15
likely benign
NM_001750.7(CAST):c.756A>C (p.Glu252Asp) single nucleotide variant Inborn genetic diseases [RCV002673300] Chr5:96737905 [GRCh38]
Chr5:96073609 [GRCh37]
Chr5:5q15
uncertain significance
NM_001750.7(CAST):c.1382G>A (p.Arg461Gln) single nucleotide variant Inborn genetic diseases [RCV002747385] Chr5:96748567 [GRCh38]
Chr5:96084271 [GRCh37]
Chr5:5q15
likely benign
NM_001750.7(CAST):c.692C>T (p.Ser231Leu) single nucleotide variant not provided [RCV002584905] Chr5:96736233 [GRCh38]
Chr5:96071937 [GRCh37]
Chr5:5q15
uncertain significance
NM_001750.7(CAST):c.1153C>A (p.Gln385Lys) single nucleotide variant Inborn genetic diseases [RCV002677347] Chr5:96742709 [GRCh38]
Chr5:96078413 [GRCh37]
Chr5:5q15
likely benign
NM_001750.7(CAST):c.1757T>C (p.Leu586Pro) single nucleotide variant not provided [RCV002943761] Chr5:96757490 [GRCh38]
Chr5:96093194 [GRCh37]
Chr5:5q15
uncertain significance
NM_001750.7(CAST):c.1633G>T (p.Ala545Ser) single nucleotide variant Inborn genetic diseases [RCV003214590] Chr5:96754664 [GRCh38]
Chr5:96090368 [GRCh37]
Chr5:5q15
uncertain significance
NM_001750.7(CAST):c.1331A>G (p.Lys444Arg) single nucleotide variant Inborn genetic diseases [RCV003215967] Chr5:96747391 [GRCh38]
Chr5:96083095 [GRCh37]
Chr5:5q15
uncertain significance
NM_001750.7(CAST):c.1807T>C (p.Ser603Pro) single nucleotide variant Inborn genetic diseases [RCV003286687] Chr5:96757628 [GRCh38]
Chr5:96093332 [GRCh37]
Chr5:5q15
uncertain significance
NM_000439.5(PCSK1):c.181-305T>C single nucleotide variant not provided [RCV001674801] Chr5:96429622 [GRCh38]
Chr5:95765326 [GRCh37]
Chr5:5q15
benign
NM_000439.5(PCSK1):c.1723-153T>C single nucleotide variant not provided [RCV001674265] Chr5:96395178 [GRCh38]
Chr5:95730882 [GRCh37]
Chr5:5q15
benign
NM_000439.5(PCSK1):c.1884+13C>G single nucleotide variant Obesity due to prohormone convertase I deficiency [RCV001158035] Chr5:96394851 [GRCh38]
Chr5:95730555 [GRCh37]
Chr5:5q15
uncertain significance
NM_000439.5(PCSK1):c.1884+11C>T single nucleotide variant Obesity due to prohormone convertase I deficiency [RCV001158036] Chr5:96394853 [GRCh38]
Chr5:95730557 [GRCh37]
Chr5:5q15
uncertain significance
NM_000439.5(PCSK1):c.1884+107G>A single nucleotide variant not provided [RCV001599124] Chr5:96394757 [GRCh38]
Chr5:95730461 [GRCh37]
Chr5:5q15
benign
NM_000439.5(PCSK1):c.296C>T (p.Ala99Val) single nucleotide variant not provided [RCV001979145] Chr5:96425920 [GRCh38]
Chr5:95761624 [GRCh37]
Chr5:5q15
uncertain significance
NM_000439.5(PCSK1):c.620+4A>C single nucleotide variant Obesity due to prohormone convertase I deficiency [RCV000015082] Chr5:96421876 [GRCh38]
Chr5:95757580 [GRCh37]
Chr5:5q15
pathogenic
NM_000439.5(PCSK1):c.638_640del (p.Ala213del) deletion Obesity due to prohormone convertase I deficiency [RCV000015084] Chr5:96416102..96416104 [GRCh38]
Chr5:95751806..95751808 [GRCh37]
Chr5:5q15
pathogenic
NM_000439.5(PCSK1):c.544-39_544-38del deletion not provided [RCV001644343] Chr5:96421994..96421995 [GRCh38]
Chr5:95757698..95757699 [GRCh37]
Chr5:5q15
benign
NM_000439.5(PCSK1):c.396+90_396+91del deletion not provided [RCV001689528] Chr5:96425729..96425730 [GRCh38]
Chr5:95761433..95761434 [GRCh37]
Chr5:5q15
benign
NM_000439.5(PCSK1):c.1146G>A (p.Ser382=) single nucleotide variant Obesity due to prohormone convertase I deficiency [RCV001152563] Chr5:96408273 [GRCh38]
Chr5:95743977 [GRCh37]
Chr5:5q15
uncertain significance
NM_000439.5(PCSK1):c.1071C>T (p.Ser357=) single nucleotide variant Obesity due to prohormone convertase I deficiency [RCV001153843]|not provided [RCV000883931] Chr5:96410798 [GRCh38]
Chr5:95746502 [GRCh37]
Chr5:5q15
likely benign|uncertain significance
NM_000439.5(PCSK1):c.1549C>T (p.Arg517Ter) single nucleotide variant Obesity due to prohormone convertase I deficiency [RCV001807939] Chr5:96398918 [GRCh38]
Chr5:95734622 [GRCh37]
Chr5:5q15
likely pathogenic
NM_000439.5(PCSK1):c.675C>A (p.Cys225Ter) single nucleotide variant Obesity due to prohormone convertase I deficiency [RCV001808251] Chr5:96416067 [GRCh38]
Chr5:95751771 [GRCh37]
Chr5:5q15
likely pathogenic
NM_000439.5(PCSK1):c.1993C>G (p.Gln665Glu) single nucleotide variant Monogenic Non-Syndromic Obesity [RCV000397598]|Obesity due to prohormone convertase I deficiency [RCV000342685]|not provided [RCV001672668]|not specified [RCV000730963] Chr5:96393270 [GRCh38]
Chr5:95728974 [GRCh37]
Chr5:5q15
benign|likely benign
NM_000439.5(PCSK1):c.1650T>C (p.Asn550=) single nucleotide variant Monogenic Non-Syndromic Obesity [RCV000368049]|Obesity due to prohormone convertase I deficiency [RCV000275790]|not provided [RCV002058545]|not specified [RCV001529723] Chr5:96397408 [GRCh38]
Chr5:95733112 [GRCh37]
Chr5:5q15
benign|likely benign
NM_000439.5(PCSK1):c.2129C>G (p.Pro710Arg) single nucleotide variant not specified [RCV001819596] Chr5:96393134 [GRCh38]
Chr5:95728838 [GRCh37]
Chr5:5q15
uncertain significance
NM_000439.5(PCSK1):c.*438C>A single nucleotide variant Obesity due to prohormone convertase I deficiency [RCV001152464] Chr5:96392563 [GRCh38]
Chr5:95728267 [GRCh37]
Chr5:5q15
uncertain significance
NM_000439.5(PCSK1):c.239G>A (p.Arg80Gln) single nucleotide variant not provided [RCV002077275]|not specified [RCV001822203] Chr5:96429259 [GRCh38]
Chr5:95764963 [GRCh37]
Chr5:5q15
benign|likely benign
NM_000439.5(PCSK1):c.1405G>A (p.Val469Ile) single nucleotide variant Obesity due to prohormone convertase I deficiency [RCV001152561]|not provided [RCV000498556] Chr5:96399978 [GRCh38]
Chr5:95735682 [GRCh37]
Chr5:5q15
uncertain significance
NM_000439.5(PCSK1):c.1030G>A (p.Ala344Thr) single nucleotide variant Obesity due to prohormone convertase I deficiency [RCV001153844]|not provided [RCV002070876] Chr5:96410839 [GRCh38]
Chr5:95746543 [GRCh37]
Chr5:5q15
benign|uncertain significance
NM_000439.5(PCSK1):c.470C>T (p.Thr157Met) single nucleotide variant not specified [RCV001822262] Chr5:96423386 [GRCh38]
Chr5:95759090 [GRCh37]
Chr5:5q15
uncertain significance
NM_000439.5(PCSK1):c.1447G>A (p.Gly483Arg) single nucleotide variant Obesity due to prohormone convertase I deficiency [RCV000015081] Chr5:96399020 [GRCh38]
Chr5:95734724 [GRCh37]
Chr5:5q15
pathogenic
NM_000439.5(PCSK1):c.748G>T (p.Glu250Ter) single nucleotide variant Obesity due to prohormone convertase I deficiency [RCV000015083] Chr5:96412452 [GRCh38]
Chr5:95748156 [GRCh37]
Chr5:5q15
pathogenic
NM_000439.5(PCSK1):c.1764G>A (p.Lys588=) single nucleotide variant Monogenic Non-Syndromic Obesity [RCV000397585]|Obesity due to prohormone convertase I deficiency [RCV000310895]|not provided [RCV001701867]|not specified [RCV001700083] Chr5:96394984 [GRCh38]
Chr5:95730688 [GRCh37]
Chr5:5q15
benign|likely benign|uncertain significance
NM_000439.5(PCSK1):c.927C>G (p.Asn309Lys) single nucleotide variant Obesity due to prohormone convertase I deficiency [RCV002291322] Chr5:96410942 [GRCh38]
Chr5:95746646 [GRCh37]
Chr5:5q15
pathogenic
NM_000439.5(PCSK1):c.945T>C (p.Asp315=) single nucleotide variant Obesity due to prohormone convertase I deficiency [RCV001153846] Chr5:96410924 [GRCh38]
Chr5:95746628 [GRCh37]
Chr5:5q15
uncertain significance
NM_000439.5(PCSK1):c.544-45_544-38del deletion not provided [RCV001684592] Chr5:96421994..96422001 [GRCh38]
Chr5:95757698..95757705 [GRCh37]
Chr5:5q15
benign
NM_000439.5(PCSK1):c.1095+123A>C single nucleotide variant not provided [RCV001719255] Chr5:96410651 [GRCh38]
Chr5:95746355 [GRCh37]
Chr5:5q15
benign
NM_000439.5(PCSK1):c.*1307A>G single nucleotide variant Obesity due to prohormone convertase I deficiency [RCV001156257] Chr5:96391694 [GRCh38]
Chr5:95727398 [GRCh37]
Chr5:5q15
uncertain significance
NM_000439.5(PCSK1):c.612C>T (p.Asn204=) single nucleotide variant Monogenic Non-Syndromic Obesity [RCV000313031]|Obesity due to prohormone convertase I deficiency [RCV000369988]|not provided [RCV001613176] Chr5:96421888 [GRCh38]
Chr5:95757592 [GRCh37]
Chr5:5q15
benign|likely benign
NM_000439.5(PCSK1):c.1196+219G>A single nucleotide variant not provided [RCV001614197] Chr5:96408004 [GRCh38]
Chr5:95743708 [GRCh37]
Chr5:5q15
benign
NM_000439.5(PCSK1):c.*1967C>T single nucleotide variant Obesity due to prohormone convertase I deficiency [RCV001152371] Chr5:96391034 [GRCh38]
Chr5:95726738 [GRCh37]
Chr5:5q15
uncertain significance
NM_000439.5(PCSK1):c.1197-9C>T single nucleotide variant Monogenic Non-Syndromic Obesity [RCV000283894]|Obesity due to prohormone convertase I deficiency [RCV000385249]|not provided [RCV000886542]|not specified [RCV001729558] Chr5:96400195 [GRCh38]
Chr5:95735899 [GRCh37]
Chr5:5q15
benign|uncertain significance
NM_000439.5(PCSK1):c.920C>T (p.Ser307Leu) single nucleotide variant Obesity due to prohormone convertase I deficiency [RCV000015085] Chr5:96410949 [GRCh38]
Chr5:95746653 [GRCh37]
Chr5:5q15
pathogenic
NM_000439.5(PCSK1):c.*170A>T single nucleotide variant Obesity due to prohormone convertase I deficiency [RCV001153739] Chr5:96392831 [GRCh38]
Chr5:95728535 [GRCh37]
Chr5:5q15
uncertain significance
NM_000439.5(PCSK1):c.993C>T (p.Ile331=) single nucleotide variant Obesity due to prohormone convertase I deficiency [RCV001153845] Chr5:96410876 [GRCh38]
Chr5:95746580 [GRCh37]
Chr5:5q15
uncertain significance
NM_000439.5(PCSK1):c.927C>T (p.Asn309=) single nucleotide variant Obesity due to prohormone convertase I deficiency [RCV001153847]|not provided [RCV002559483]|not specified [RCV001819862] Chr5:96410942 [GRCh38]
Chr5:95746646 [GRCh37]
Chr5:5q15
likely benign|uncertain significance
NM_000439.5(PCSK1):c.882+56_882+58del microsatellite not provided [RCV001655391] Chr5:96412260..96412262 [GRCh38]
Chr5:95747964..95747966 [GRCh37]
Chr5:5q15
benign
NM_000439.5(PCSK1):c.1292C>A (p.Ala431Glu) single nucleotide variant not provided [RCV002013668] Chr5:96400091 [GRCh38]
Chr5:95735795 [GRCh37]
Chr5:5q15
uncertain significance
NM_000439.5(PCSK1):c.805G>T (p.Gly269Cys) single nucleotide variant not provided [RCV002005478] Chr5:96412395 [GRCh38]
Chr5:95748099 [GRCh37]
Chr5:5q15
uncertain significance
NM_000439.5(PCSK1):c.1197-16G>A single nucleotide variant not provided [RCV002074706] Chr5:96400202 [GRCh38]
Chr5:95735906 [GRCh37]
Chr5:5q15
likely benign
NM_000439.5(PCSK1):c.180+864G>A single nucleotide variant not provided [RCV001636368] Chr5:96431999 [GRCh38]
Chr5:95767703 [GRCh37]
Chr5:5q15
benign
NM_000439.5(PCSK1):c.1537A>G (p.Ile513Val) single nucleotide variant not provided [RCV001949187] Chr5:96398930 [GRCh38]
Chr5:95734634 [GRCh37]
Chr5:5q15
uncertain significance
NM_000439.5(PCSK1):c.*1372C>G single nucleotide variant Obesity due to prohormone convertase I deficiency [RCV001156256] Chr5:96391629 [GRCh38]
Chr5:95727333 [GRCh37]
Chr5:5q15
uncertain significance
NM_000439.5(PCSK1):c.397-10T>C single nucleotide variant Monogenic Non-Syndromic Obesity [RCV000307699]|Obesity due to prohormone convertase I deficiency [RCV000395733]|not provided [RCV000880021]|not specified [RCV001821081] Chr5:96423469 [GRCh38]
Chr5:95759173 [GRCh37]
Chr5:5q15
benign|uncertain significance
NM_000439.5(PCSK1):c.1096-10C>T single nucleotide variant Monogenic Non-Syndromic Obesity [RCV000390603]|Obesity due to prohormone convertase I deficiency [RCV000281077]|not provided [RCV002058546] Chr5:96408333 [GRCh38]
Chr5:95744037 [GRCh37]
Chr5:5q15
likely benign|uncertain significance
NM_000439.5(PCSK1):c.121G>A (p.Gly41Arg) single nucleotide variant Inborn genetic diseases [RCV003293909]|Obesity due to prohormone convertase I deficiency [RCV001158139] Chr5:96432922 [GRCh38]
Chr5:95768626 [GRCh37]
Chr5:5q15
uncertain significance
NM_000439.5(PCSK1):c.544-38del deletion not provided [RCV001647952] Chr5:96421994 [GRCh38]
Chr5:95757698 [GRCh37]
Chr5:5q15
benign
NM_000439.5(PCSK1):c.544-47_544-38del deletion not provided [RCV001682387] Chr5:96421994..96422003 [GRCh38]
Chr5:95757698..95757707 [GRCh37]
Chr5:5q15
benign
NM_000439.5(PCSK1):c.1214G>A (p.Arg405Gln) single nucleotide variant not provided [RCV001773191] Chr5:96400169 [GRCh38]
Chr5:95735873 [GRCh37]
Chr5:5q15
uncertain significance
NM_000439.5(PCSK1):c.*2187G>A single nucleotide variant Obesity due to prohormone convertase I deficiency [RCV001157851] Chr5:96390814 [GRCh38]
Chr5:95726518 [GRCh37]
Chr5:5q15
uncertain significance
NM_000439.5(PCSK1):c.*2115G>A single nucleotide variant Obesity due to prohormone convertase I deficiency [RCV001157852] Chr5:96390886 [GRCh38]
Chr5:95726590 [GRCh37]
Chr5:5q15
uncertain significance
NM_000439.5(PCSK1):c.*1132C>T single nucleotide variant Obesity due to prohormone convertase I deficiency [RCV001157929] Chr5:96391869 [GRCh38]
Chr5:95727573 [GRCh37]
Chr5:5q15
uncertain significance
NM_000439.5(PCSK1):c.375G>A (p.Met125Ile) single nucleotide variant Obesity due to prohormone convertase I deficiency [RCV001156478]|not provided [RCV001567232] Chr5:96425841 [GRCh38]
Chr5:95761545 [GRCh37]
Chr5:5q15
uncertain significance
NM_000439.5(PCSK1):c.856A>T (p.Lys286Ter) single nucleotide variant not provided [RCV003238715] Chr5:96412344 [GRCh38]
Chr5:95748048 [GRCh37]
Chr5:5q15
likely pathogenic
NM_000439.5(PCSK1):c.986T>C (p.Ile329Thr) single nucleotide variant not provided [RCV001917626] Chr5:96410883 [GRCh38]
Chr5:95746587 [GRCh37]
Chr5:5q15
uncertain significance
NM_000439.5(PCSK1):c.1722+272T>A single nucleotide variant not provided [RCV001709116] Chr5:96397064 [GRCh38]
Chr5:95732768 [GRCh37]
Chr5:5q15
benign
NM_000439.5(PCSK1):c.1095+1G>T single nucleotide variant Obesity due to prohormone convertase I deficiency [RCV002306253] Chr5:96410773 [GRCh38]
Chr5:95746477 [GRCh37]
Chr5:5q15
pathogenic
NM_000439.5(PCSK1):c.1095+1G>A single nucleotide variant Obesity due to prohormone convertase I deficiency [RCV002306254]|not provided [RCV003326626] Chr5:96410773 [GRCh38]
Chr5:95746477 [GRCh37]
Chr5:5q15
pathogenic|likely pathogenic
NM_000439.5(PCSK1):c.181-351G>A single nucleotide variant not provided [RCV001611125] Chr5:96429668 [GRCh38]
Chr5:95765372 [GRCh37]
Chr5:5q15
benign
NM_000439.5(PCSK1):c.65T>C (p.Leu22Pro) single nucleotide variant not provided [RCV001942412] Chr5:96432978 [GRCh38]
Chr5:95768682 [GRCh37]
Chr5:5q15
uncertain significance
NM_000439.5(PCSK1):c.1722+54A>G single nucleotide variant not provided [RCV001677788] Chr5:96397282 [GRCh38]
Chr5:95732986 [GRCh37]
Chr5:5q15
benign
NM_000439.5(PCSK1):c.1550G>A (p.Arg517Gln) single nucleotide variant not specified [RCV001822401] Chr5:96398917 [GRCh38]
Chr5:95734621 [GRCh37]
Chr5:5q15
uncertain significance
NM_000439.5(PCSK1):c.709+188T>C single nucleotide variant not provided [RCV001653271] Chr5:96415845 [GRCh38]
Chr5:95751549 [GRCh37]
Chr5:5q15
benign
NM_000439.5(PCSK1):c.*2636C>T single nucleotide variant Obesity due to prohormone convertase I deficiency [RCV001157847] Chr5:96390365 [GRCh38]
Chr5:95726069 [GRCh37]
Chr5:5q15
uncertain significance
NM_000439.5(PCSK1):c.*974A>G single nucleotide variant Obesity due to prohormone convertase I deficiency [RCV001157930] Chr5:96392027 [GRCh38]
Chr5:95727731 [GRCh37]
Chr5:5q15
uncertain significance
NM_000439.5(PCSK1):c.1780A>G (p.Thr594Ala) single nucleotide variant Obesity due to prohormone convertase I deficiency [RCV001158037] Chr5:96394968 [GRCh38]
Chr5:95730672 [GRCh37]
Chr5:5q15
uncertain significance
NM_000439.5(PCSK1):c.2069G>C (p.Ser690Thr) single nucleotide variant Monogenic Non-Syndromic Obesity [RCV000304198]|Obesity due to prohormone convertase I deficiency [RCV000404859]|not provided [RCV001718762]|not specified [RCV000730962] Chr5:96393194 [GRCh38]
Chr5:95728898 [GRCh37]
Chr5:5q15
benign|likely benign
NM_000439.5(PCSK1):c.1885-324C>T single nucleotide variant not provided [RCV001725403] Chr5:96393702 [GRCh38]
Chr5:95729406 [GRCh37]
Chr5:5q15
benign
NM_000439.5(PCSK1):c.2257A>C (p.Asn753His) single nucleotide variant not provided [RCV001917924] Chr5:96393006 [GRCh38]
Chr5:95728710 [GRCh37]
Chr5:5q15
uncertain significance
NM_000439.5(PCSK1):c.2247G>A (p.Leu749=) single nucleotide variant Obesity due to prohormone convertase I deficiency [RCV001156359] Chr5:96393016 [GRCh38]
Chr5:95728720 [GRCh37]
Chr5:5q15
uncertain significance
NM_000439.5(PCSK1):c.1982G>T (p.Gly661Val) single nucleotide variant Obesity due to prohormone convertase I deficiency [RCV001156360] Chr5:96393281 [GRCh38]
Chr5:95728985 [GRCh37]
Chr5:5q15
uncertain significance
NM_000439.5(PCSK1):c.280G>A (p.Asp94Asn) single nucleotide variant not provided [RCV002275437] Chr5:96429218 [GRCh38]
Chr5:95764922 [GRCh37]
Chr5:5q15
uncertain significance
NM_000439.5(PCSK1):c.1197-305C>T single nucleotide variant not provided [RCV001687390] Chr5:96400491 [GRCh38]
Chr5:95736195 [GRCh37]
Chr5:5q15
benign
NM_000439.5(PCSK1):c.559T>C (p.Tyr187His) single nucleotide variant Obesity due to prohormone convertase I deficiency [RCV001156475] Chr5:96421941 [GRCh38]
Chr5:95757645 [GRCh37]
Chr5:5q15
uncertain significance
NM_000439.5(PCSK1):c.541T>C (p.Tyr181His) single nucleotide variant OBESITY (BMIQ12), SUSCEPTIBILITY TO [RCV002497582]|Obesity due to prohormone convertase I deficiency [RCV001156476]|not provided [RCV001700981] Chr5:96423315 [GRCh38]
Chr5:95759019 [GRCh37]
Chr5:5q15
uncertain significance
NM_000439.5(PCSK1):c.524C>T (p.Thr175Met) single nucleotide variant Obesity due to prohormone convertase I deficiency [RCV001156477] Chr5:96423332 [GRCh38]
Chr5:95759036 [GRCh37]
Chr5:5q15
uncertain significance
NM_000439.5(PCSK1):c.334G>A (p.Ala112Thr) single nucleotide variant not provided [RCV001699928] Chr5:96425882 [GRCh38]
Chr5:95761586 [GRCh37]
Chr5:5q15
likely benign
NM_000439.5(PCSK1):c.*245G>T single nucleotide variant Obesity due to prohormone convertase I deficiency [RCV001153738] Chr5:96392756 [GRCh38]
Chr5:95728460 [GRCh37]
Chr5:5q15
uncertain significance
NM_000439.5(PCSK1):c.*2634G>A single nucleotide variant Obesity due to prohormone convertase I deficiency [RCV001157848] Chr5:96390367 [GRCh38]
Chr5:95726071 [GRCh37]
Chr5:5q15
uncertain significance
NM_000439.5(PCSK1):c.*2611A>G single nucleotide variant Obesity due to prohormone convertase I deficiency [RCV001157849] Chr5:96390390 [GRCh38]
Chr5:95726094 [GRCh37]
Chr5:5q15
uncertain significance
NM_000439.5(PCSK1):c.*2582A>G single nucleotide variant Obesity due to prohormone convertase I deficiency [RCV001157850] Chr5:96390419 [GRCh38]
Chr5:95726123 [GRCh37]
Chr5:5q15
uncertain significance
NM_000439.5(PCSK1):c.*265T>C single nucleotide variant Monogenic Non-Syndromic Obesity [RCV000318486]|Obesity due to prohormone convertase I deficiency [RCV000375391]|not provided [RCV001672667] Chr5:96392736 [GRCh38]
Chr5:95728440 [GRCh37]
Chr5:5q15
benign|likely benign
NM_000439.5(PCSK1):c.1350_1353del (p.Val450_Asp451insTer) deletion Obesity due to prohormone convertase I deficiency [RCV002306255] Chr5:96400030..96400033 [GRCh38]
Chr5:95735734..95735737 [GRCh37]
Chr5:5q15
pathogenic
NM_000439.5(PCSK1):c.285+227G>A single nucleotide variant not provided [RCV001681276] Chr5:96428986 [GRCh38]
Chr5:95764690 [GRCh37]
Chr5:5q15
benign
NM_000439.5(PCSK1):c.270A>G (p.Leu90=) single nucleotide variant not provided [RCV000881877]|not specified [RCV001817075] Chr5:96429228 [GRCh38]
Chr5:95764932 [GRCh37]
Chr5:5q15
likely benign
NM_000439.5(PCSK1):c.1313G>A (p.Arg438Gln) single nucleotide variant Obesity due to prohormone convertase I deficiency [RCV001823847] Chr5:96400070 [GRCh38]
Chr5:95735774 [GRCh37]
Chr5:5q15
likely pathogenic
NM_000439.5(PCSK1):c.544-46_544-38del deletion not provided [RCV001654681] Chr5:96421994..96422002 [GRCh38]
Chr5:95757698..95757706 [GRCh37]
Chr5:5q15
benign
NM_000439.5(PCSK1):c.1179T>C (p.Ala393=) single nucleotide variant Monogenic Non-Syndromic Obesity [RCV000334856]|Obesity due to prohormone convertase I deficiency [RCV000286908]|not provided [RCV002061298] Chr5:96408240 [GRCh38]
Chr5:95743944 [GRCh37]
Chr5:5q15
benign|uncertain significance
NM_000439.5(PCSK1):c.181-58A>C single nucleotide variant not provided [RCV001680071] Chr5:96429375 [GRCh38]
Chr5:95765079 [GRCh37]
Chr5:5q15
benign
NM_000439.5(PCSK1):c.958dup (p.Asp320fs) duplication Obesity due to prohormone convertase I deficiency [RCV001784811] Chr5:96410910..96410911 [GRCh38]
Chr5:95746614..95746615 [GRCh37]
Chr5:5q15
pathogenic
NM_000439.5(PCSK1):c.423G>A (p.Leu141=) single nucleotide variant not provided [RCV002085126] Chr5:96423433 [GRCh38]
Chr5:95759137 [GRCh37]
Chr5:5q15
likely benign
NM_000439.5(PCSK1):c.-101T>C single nucleotide variant Monogenic Non-Syndromic Obesity [RCV000371861]|Obesity due to prohormone convertase I deficiency [RCV000279593]|not provided [RCV001709626] Chr5:96433143 [GRCh38]
Chr5:95768847 [GRCh37]
Chr5:5q15
benign|likely benign
NM_000439.5(PCSK1):c.1345C>G (p.Leu449Val) single nucleotide variant Obesity due to prohormone convertase I deficiency [RCV001152562] Chr5:96400038 [GRCh38]
Chr5:95735742 [GRCh37]
Chr5:5q15
uncertain significance
NM_000439.5(PCSK1):c.*120C>T single nucleotide variant Obesity due to prohormone convertase I deficiency [RCV001153740] Chr5:96392881 [GRCh38]
Chr5:95728585 [GRCh37]
Chr5:5q15
uncertain significance
NM_000439.5(PCSK1):c.595C>T (p.Arg199Ter) single nucleotide variant Obesity due to prohormone convertase I deficiency [RCV002291323] Chr5:96421905 [GRCh38]
Chr5:95757609 [GRCh37]
Chr5:5q15
pathogenic
NM_000439.5(PCSK1):c.396+91del deletion not provided [RCV001680502] Chr5:96425729 [GRCh38]
Chr5:95761433 [GRCh37]
Chr5:5q15
benign
NM_000439.5(PCSK1):c.180+647A>G single nucleotide variant not provided [RCV001695125] Chr5:96432216 [GRCh38]
Chr5:95767920 [GRCh37]
Chr5:5q15
benign
NM_000439.5(PCSK1):c.624C>T (p.His208=) single nucleotide variant Obesity due to prohormone convertase I deficiency [RCV001156474]|not provided [RCV002070926] Chr5:96416118 [GRCh38]
Chr5:95751822 [GRCh37]
Chr5:5q15
likely benign|uncertain significance
NM_000439.5(PCSK1):c.709+219dup duplication not provided [RCV001714032] Chr5:96415805..96415806 [GRCh38]
Chr5:95751509..95751510 [GRCh37]
Chr5:5q15
benign
NM_000439.5(PCSK1):c.1918A>G (p.Thr640Ala) single nucleotide variant Obesity due to prohormone convertase I deficiency [RCV001158034]|not provided [RCV001700397]|not specified [RCV000503873] Chr5:96393345 [GRCh38]
Chr5:95729049 [GRCh37]
Chr5:5q15
likely benign|uncertain significance
NM_000439.5(PCSK1):c.661A>G (p.Asn221Asp) single nucleotide variant OBESITY (BMIQ12), SUSCEPTIBILITY TO [RCV000022673]|not provided [RCV001636601]|not specified [RCV000731192] Chr5:96416081 [GRCh38]
Chr5:95751785 [GRCh37]
Chr5:5q15
risk factor|benign
NM_000439.5(PCSK1):c.710-8T>G single nucleotide variant not provided [RCV002806182] Chr5:96412498 [GRCh38]
Chr5:95748202 [GRCh37]
Chr5:5q15
likely benign
NM_000439.5(PCSK1):c.37T>C (p.Phe13Leu) single nucleotide variant not provided [RCV002853294] Chr5:96433006 [GRCh38]
Chr5:95768710 [GRCh37]
Chr5:5q15
uncertain significance
NM_000439.5(PCSK1):c.2179G>A (p.Val727Ile) single nucleotide variant Inborn genetic diseases [RCV002712247] Chr5:96393084 [GRCh38]
Chr5:95728788 [GRCh37]
Chr5:5q15
uncertain significance
NM_000439.5(PCSK1):c.1597A>G (p.Thr533Ala) single nucleotide variant Inborn genetic diseases [RCV002855779] Chr5:96397461 [GRCh38]
Chr5:95733165 [GRCh37]
Chr5:5q15
uncertain significance
NM_000439.5(PCSK1):c.1063T>C (p.Tyr355His) single nucleotide variant Inborn genetic diseases [RCV002803685] Chr5:96410806 [GRCh38]
Chr5:95746510 [GRCh37]
Chr5:5q15
uncertain significance
NM_000439.5(PCSK1):c.1221G>A (p.Met407Ile) single nucleotide variant Inborn genetic diseases [RCV002743518] Chr5:96400162 [GRCh38]
Chr5:95735866 [GRCh37]
Chr5:5q15
uncertain significance
NM_000439.5(PCSK1):c.620+10T>C single nucleotide variant not provided [RCV002734820] Chr5:96421870 [GRCh38]
Chr5:95757574 [GRCh37]
Chr5:5q15
likely benign
NM_000439.5(PCSK1):c.397-18G>A single nucleotide variant not provided [RCV002148789] Chr5:96423477 [GRCh38]
Chr5:95759181 [GRCh37]
Chr5:5q15
likely benign
NM_000439.5(PCSK1):c.112G>A (p.Glu38Lys) single nucleotide variant not provided [RCV001879710] Chr5:96432931 [GRCh38]
Chr5:95768635 [GRCh37]
Chr5:5q15
uncertain significance
NM_000439.5(PCSK1):c.710-9G>A single nucleotide variant not provided [RCV002791033] Chr5:96412499 [GRCh38]
Chr5:95748203 [GRCh37]
Chr5:5q15
likely benign
NM_000439.5(PCSK1):c.396+9C>G single nucleotide variant not provided [RCV002103085] Chr5:96425811 [GRCh38]
Chr5:95761515 [GRCh37]
Chr5:5q15
likely benign
NM_000439.5(PCSK1):c.1124C>T (p.Thr375Met) single nucleotide variant Inborn genetic diseases [RCV003351364] Chr5:96408295 [GRCh38]
Chr5:95743999 [GRCh37]
Chr5:5q15
uncertain significance
NM_000439.5(PCSK1):c.882+13A>G single nucleotide variant not provided [RCV002966901] Chr5:96412305 [GRCh38]
Chr5:95748009 [GRCh37]
Chr5:5q15
likely benign
NM_000439.5(PCSK1):c.1951G>A (p.Val651Ile) single nucleotide variant Inborn genetic diseases [RCV002869511] Chr5:96393312 [GRCh38]
Chr5:95729016 [GRCh37]
Chr5:5q15
likely benign
NM_000439.5(PCSK1):c.1268A>G (p.Asn423Ser) single nucleotide variant Inborn genetic diseases [RCV002869669] Chr5:96400115 [GRCh38]
Chr5:95735819 [GRCh37]
Chr5:5q15
uncertain significance
NM_000439.5(PCSK1):c.1824G>A (p.Thr608=) single nucleotide variant not provided [RCV003106461] Chr5:96394924 [GRCh38]
Chr5:95730628 [GRCh37]
Chr5:5q15
likely benign
NM_000439.5(PCSK1):c.1926G>A (p.Val642=) single nucleotide variant not provided [RCV003049235] Chr5:96393337 [GRCh38]
Chr5:95729041 [GRCh37]
Chr5:5q15
likely benign
NM_000439.5(PCSK1):c.1326C>G (p.Gly442=) single nucleotide variant not provided [RCV000938721] Chr5:96400057 [GRCh38]
Chr5:95735761 [GRCh37]
Chr5:5q15
likely benign
NM_000439.5(PCSK1):c.1497T>C (p.Asn499=) single nucleotide variant not provided [RCV000923337] Chr5:96398970 [GRCh38]
Chr5:95734674 [GRCh37]
Chr5:5q15
likely benign
NM_000439.5(PCSK1):c.1518T>C (p.His506=) single nucleotide variant not provided [RCV000924135] Chr5:96398949 [GRCh38]
Chr5:95734653 [GRCh37]
Chr5:5q15
likely benign
NM_000439.5(PCSK1):c.42C>T (p.Val14=) single nucleotide variant not provided [RCV000901011] Chr5:96433001 [GRCh38]
Chr5:95768705 [GRCh37]
Chr5:5q15
likely benign
NM_000439.5(PCSK1):c.*287A>G single nucleotide variant Monogenic Non-Syndromic Obesity [RCV000260656]|Obesity due to prohormone convertase I deficiency [RCV000353426] Chr5:96392714 [GRCh38]
Chr5:95728418 [GRCh37]
Chr5:5q15
uncertain significance
NM_000439.5(PCSK1):c.*1231C>T single nucleotide variant Monogenic Non-Syndromic Obesity [RCV000358567]|Obesity due to prohormone convertase I deficiency [RCV000266215] Chr5:96391770 [GRCh38]
Chr5:95727474 [GRCh37]
Chr5:5q15
uncertain significance
NM_000439.5(PCSK1):c.676G>A (p.Gly226Arg) single nucleotide variant not provided [RCV000732517] Chr5:96416066 [GRCh38]
Chr5:95751770 [GRCh37]
Chr5:5q15
uncertain significance
NM_000439.5(PCSK1):c.352C>T (p.Leu118=) single nucleotide variant OBESITY (BMIQ12), SUSCEPTIBILITY TO [RCV002495503]|not provided [RCV000911791] Chr5:96425864 [GRCh38]
Chr5:95761568 [GRCh37]
Chr5:5q15
likely benign
NM_000439.5(PCSK1):c.1625A>G (p.Asp542Gly) single nucleotide variant not provided [RCV000518996] Chr5:96397433 [GRCh38]
Chr5:95733137 [GRCh37]
Chr5:5q15
uncertain significance
NM_000439.5(PCSK1):c.1774C>A (p.His592Asn) single nucleotide variant not provided [RCV000522431] Chr5:96394974 [GRCh38]
Chr5:95730678 [GRCh37]
Chr5:5q15
uncertain significance
NM_000439.5(PCSK1):c.180+757A>G single nucleotide variant not provided [RCV000494551] Chr5:96432106 [GRCh38]
Chr5:95767810 [GRCh37]
Chr5:5q15
uncertain significance
NM_000439.5(PCSK1):c.*1097C>A single nucleotide variant Monogenic Non-Syndromic Obesity [RCV000259909]|Obesity due to prohormone convertase I deficiency [RCV000317430] Chr5:96391904 [GRCh38]
Chr5:95727608 [GRCh37]
Chr5:5q15
uncertain significance
NM_000439.5(PCSK1):c.595C>A (p.Arg199=) single nucleotide variant not specified [RCV000500465] Chr5:96421905 [GRCh38]
Chr5:95757609 [GRCh37]
Chr5:5q15
uncertain significance
NM_000439.5(PCSK1):c.*471C>G single nucleotide variant Monogenic Non-Syndromic Obesity [RCV000305580]|Obesity due to prohormone convertase I deficiency [RCV000266737] Chr5:96392530 [GRCh38]
Chr5:95728234 [GRCh37]
Chr5:5q15
uncertain significance
NM_000439.5(PCSK1):c.2137C>T (p.Leu713Phe) single nucleotide variant Monogenic Non-Syndromic Obesity [RCV000291728]|OBESITY (BMIQ12), SUSCEPTIBILITY TO [RCV002488787]|Obesity due to prohormone convertase I deficiency [RCV000339691] Chr5:96393126 [GRCh38]
Chr5:95728830 [GRCh37]
Chr5:5q15
uncertain significance
NM_012081.6(ELL2):c.98A>G (p.Lys33Arg) single nucleotide variant Inborn genetic diseases [RCV003281683] Chr5:95961624 [GRCh38]
Chr5:95297328 [GRCh37]
Chr5:5q15
uncertain significance
NM_000439.5(PCSK1):c.*1842G>A single nucleotide variant Monogenic Non-Syndromic Obesity [RCV000384857]|Obesity due to prohormone convertase I deficiency [RCV000325675] Chr5:96391159 [GRCh38]
Chr5:95726863 [GRCh37]
Chr5:5q15
uncertain significance
NM_000439.5(PCSK1):c.*837G>A single nucleotide variant Monogenic Non-Syndromic Obesity [RCV000294746]|Obesity due to prohormone convertase I deficiency [RCV000351954] Chr5:96392164 [GRCh38]
Chr5:95727868 [GRCh37]
Chr5:5q15
uncertain significance
NM_000439.5(PCSK1):c.-147C>G single nucleotide variant Monogenic Non-Syndromic Obesity [RCV000404347]|Obesity due to prohormone convertase I deficiency [RCV000296164] Chr5:96433189 [GRCh38]
Chr5:95768893 [GRCh37]
Chr5:5q15
uncertain significance
NM_000439.5(PCSK1):c.180+15T>G single nucleotide variant not provided [RCV002601362] Chr5:96432848 [GRCh38]
Chr5:95768552 [GRCh37]
Chr5:5q15
likely benign
NM_000439.5(PCSK1):c.*826del deletion Monogenic Non-Syndromic Obesity [RCV000406522]|Obesity due to prohormone convertase I deficiency [RCV000307625] Chr5:96392175 [GRCh38]
Chr5:95727879 [GRCh37]
Chr5:5q15
likely benign
NM_000439.5(PCSK1):c.1381G>A (p.Val461Met) single nucleotide variant OBESITY (BMIQ12), SUSCEPTIBILITY TO [RCV002468439] Chr5:96400002 [GRCh38]
Chr5:95735706 [GRCh37]
Chr5:5q15
uncertain significance
NM_000439.5(PCSK1):c.1414A>G (p.Asn472Asp) single nucleotide variant Monogenic Non-Syndromic Obesity [RCV000328137]|Obesity due to prohormone convertase I deficiency [RCV000270763] Chr5:96399969 [GRCh38]
Chr5:95735673 [GRCh37]
Chr5:5q15
uncertain significance
NM_000439.5(PCSK1):c.284G>A (p.Arg95His) single nucleotide variant Monogenic Non-Syndromic Obesity [RCV000272404]|Obesity due to prohormone convertase I deficiency [RCV000364590] Chr5:96429214 [GRCh38]
Chr5:95764918 [GRCh37]
Chr5:5q15
uncertain significance
NM_000439.5(PCSK1):c.1029C>G (p.Tyr343Ter) single nucleotide variant not provided [RCV002640737] Chr5:96410840 [GRCh38]
Chr5:95746544 [GRCh37]
Chr5:5q15
pathogenic
NM_000439.5(PCSK1):c.772C>A (p.Pro258Thr) single nucleotide variant not provided [RCV002640738] Chr5:96412428 [GRCh38]
Chr5:95748132 [GRCh37]
Chr5:5q15
uncertain significance
NM_000439.5(PCSK1):c.490A>G (p.Thr164Ala) single nucleotide variant not provided [RCV002640739] Chr5:96423366 [GRCh38]
Chr5:95759070 [GRCh37]
Chr5:5q15
uncertain significance
NM_000439.5(PCSK1):c.238C>T (p.Arg80Ter) single nucleotide variant Obesity due to prohormone convertase I deficiency [RCV001290206] Chr5:96429260 [GRCh38]
Chr5:95764964 [GRCh37]
Chr5:5q15
pathogenic
NM_000439.5(PCSK1):c.1923G>A (p.Leu641=) single nucleotide variant Monogenic Non-Syndromic Obesity [RCV000298180]|Obesity due to prohormone convertase I deficiency [RCV000355401]|not provided [RCV000969200] Chr5:96393340 [GRCh38]
Chr5:95729044 [GRCh37]
Chr5:5q15
benign|uncertain significance
NM_000439.5(PCSK1):c.1196+10A>G single nucleotide variant Monogenic Non-Syndromic Obesity [RCV000322441]|Obesity due to prohormone convertase I deficiency [RCV000379399] Chr5:96408213 [GRCh38]
Chr5:95743917 [GRCh37]
Chr5:5q15
uncertain significance
NM_000439.5(PCSK1):c.*262del deletion Monogenic Non-Syndromic Obesity [RCV000331249]|Obesity due to prohormone convertase I deficiency [RCV000273783] Chr5:96392739 [GRCh38]
Chr5:95728443 [GRCh37]
Chr5:5q15
uncertain significance
NM_000439.5(PCSK1):c.*1571A>G single nucleotide variant Monogenic Non-Syndromic Obesity [RCV000376944]|Obesity due to prohormone convertase I deficiency [RCV000285319] Chr5:96391430 [GRCh38]
Chr5:95727134 [GRCh37]
Chr5:5q15
uncertain significance
NM_001750.7(CAST):c.1042G>T (p.Ala348Ser) single nucleotide variant Inborn genetic diseases [RCV003361589] Chr5:96741524 [GRCh38]
Chr5:96077228 [GRCh37]
Chr5:5q15
uncertain significance
NM_000439.5(PCSK1):c.*1164T>C single nucleotide variant Monogenic Non-Syndromic Obesity [RCV000323230]|Obesity due to prohormone convertase I deficiency [RCV000380223] Chr5:96391837 [GRCh38]
Chr5:95727541 [GRCh37]
Chr5:5q15
uncertain significance
NM_000439.5(PCSK1):c.414G>A (p.Thr138=) single nucleotide variant not provided [RCV002622424] Chr5:96423442 [GRCh38]
Chr5:95759146 [GRCh37]
Chr5:5q15
likely benign
NM_000439.5(PCSK1):c.-137A>G single nucleotide variant Monogenic Non-Syndromic Obesity [RCV000318260]|Obesity due to prohormone convertase I deficiency [RCV000375165] Chr5:96433179 [GRCh38]
Chr5:95768883 [GRCh37]
Chr5:5q15
uncertain significance
NM_000439.5(PCSK1):c.*1443C>T single nucleotide variant Monogenic Non-Syndromic Obesity [RCV000279298]|Obesity due to prohormone convertase I deficiency [RCV000336741] Chr5:96391558 [GRCh38]
Chr5:95727262 [GRCh37]
Chr5:5q15
uncertain significance
NM_000439.5(PCSK1):c.*1414A>C single nucleotide variant Monogenic Non-Syndromic Obesity [RCV000395776]|Obesity due to prohormone convertase I deficiency [RCV000310993] Chr5:96391587 [GRCh38]
Chr5:95727291 [GRCh37]
Chr5:5q15
uncertain significance
NM_000439.5(PCSK1):c.868T>C (p.Tyr290His) single nucleotide variant not provided [RCV002598211] Chr5:96412332 [GRCh38]
Chr5:95748036 [GRCh37]
Chr5:5q15
uncertain significance
NM_000439.5(PCSK1):c.*88G>C single nucleotide variant Monogenic Non-Syndromic Obesity [RCV000288016]|Obesity due to prohormone convertase I deficiency [RCV000389448] Chr5:96392913 [GRCh38]
Chr5:95728617 [GRCh37]
Chr5:5q15
uncertain significance
NM_000439.5(PCSK1):c.710-18_710-15del deletion not provided [RCV002583964] Chr5:96412505..96412508 [GRCh38]
Chr5:95748209..95748212 [GRCh37]
Chr5:5q15
likely benign
NM_000439.5(PCSK1):c.1746A>G (p.Gly582=) single nucleotide variant not provided [RCV002598486] Chr5:96395002 [GRCh38]
Chr5:95730706 [GRCh37]
Chr5:5q15
likely benign
NM_000439.5(PCSK1):c.-140C>T single nucleotide variant Monogenic Non-Syndromic Obesity [RCV000349980]|Obesity due to prohormone convertase I deficiency [RCV000292648] Chr5:96433182 [GRCh38]
Chr5:95768886 [GRCh37]
Chr5:5q15
uncertain significance
NM_000439.5(PCSK1):c.*1041T>A single nucleotide variant Monogenic Non-Syndromic Obesity [RCV000374499]|Obesity due to prohormone convertase I deficiency [RCV000282367] Chr5:96391960 [GRCh38]
Chr5:95727664 [GRCh37]
Chr5:5q15
likely benign
NM_000439.5(PCSK1):c.*1232G>A single nucleotide variant Monogenic Non-Syndromic Obesity [RCV000272141]|Obesity due to prohormone convertase I deficiency [RCV000329524] Chr5:96391769 [GRCh38]
Chr5:95727473 [GRCh37]
Chr5:5q15
uncertain significance
NM_000439.5(PCSK1):c.1723-12C>T single nucleotide variant not provided [RCV002574391] Chr5:96395037 [GRCh38]
Chr5:95730741 [GRCh37]
Chr5:5q15
likely benign
NM_000439.5(PCSK1):c.675C>T (p.Cys225=) single nucleotide variant not provided [RCV002586948] Chr5:96416067 [GRCh38]
Chr5:95751771 [GRCh37]
Chr5:5q15
uncertain significance
NM_000439.5(PCSK1):c.*1733G>A single nucleotide variant Monogenic Non-Syndromic Obesity [RCV000290620]|Obesity due to prohormone convertase I deficiency [RCV000322249] Chr5:96391268 [GRCh38]
Chr5:95726972 [GRCh37]
Chr5:5q15
uncertain significance
NM_000439.5(PCSK1):c.818del (p.Asp273fs) deletion Obesity due to prohormone convertase I deficiency [RCV003227576] Chr5:96412382 [GRCh38]
Chr5:95748086 [GRCh37]
Chr5:5q15
likely pathogenic
NM_000439.5(PCSK1):c.323G>C (p.Ser108Thr) single nucleotide variant Inborn genetic diseases [RCV003295057] Chr5:96425893 [GRCh38]
Chr5:95761597 [GRCh37]
Chr5:5q15
likely benign
NM_000439.5(PCSK1):c.*597T>C single nucleotide variant Monogenic Non-Syndromic Obesity [RCV000358756]|Obesity due to prohormone convertase I deficiency [RCV000301669] Chr5:96392404 [GRCh38]
Chr5:95728108 [GRCh37]
Chr5:5q15
uncertain significance
NM_000439.5(PCSK1):c.*1912G>A single nucleotide variant Monogenic Non-Syndromic Obesity [RCV000333819]|Obesity due to prohormone convertase I deficiency [RCV000274002] Chr5:96391089 [GRCh38]
Chr5:95726793 [GRCh37]
Chr5:5q15
uncertain significance
NM_000439.5(PCSK1):c.*2288A>G single nucleotide variant Monogenic Non-Syndromic Obesity [RCV000342865]|Obesity due to prohormone convertase I deficiency [RCV000298594] Chr5:96390713 [GRCh38]
Chr5:95726417 [GRCh37]
Chr5:5q15
uncertain significance
NM_000439.5(PCSK1):c.1433C>A (p.Ala478Asp) single nucleotide variant not provided [RCV002619743] Chr5:96399034 [GRCh38]
Chr5:95734738 [GRCh37]
Chr5:5q15
uncertain significance
NM_000439.5(PCSK1):c.638C>T (p.Ala213Val) single nucleotide variant OBESITY (BMIQ12), SUSCEPTIBILITY TO [RCV003228614] Chr5:96416104 [GRCh38]
Chr5:95751808 [GRCh37]
Chr5:5q15
uncertain significance
NM_000439.5(PCSK1):c.1430+7A>G single nucleotide variant OBESITY (BMIQ12), SUSCEPTIBILITY TO [RCV003228638] Chr5:96399946 [GRCh38]
Chr5:95735650 [GRCh37]
Chr5:5q15
uncertain significance
NM_000439.5(PCSK1):c.1673C>A (p.Thr558Lys) single nucleotide variant Inborn genetic diseases [RCV003239613] Chr5:96397385 [GRCh38]
Chr5:95733089 [GRCh37]
Chr5:5q15
uncertain significance
NM_000439.5(PCSK1):c.1712T>A (p.Ile571Asn) single nucleotide variant Inborn genetic diseases [RCV003195675] Chr5:96397346 [GRCh38]
Chr5:95733050 [GRCh37]
Chr5:5q15
uncertain significance
NM_000439.5(PCSK1):c.1688C>G (p.Pro563Arg) single nucleotide variant Obesity due to prohormone convertase I deficiency [RCV000995597] Chr5:96397370 [GRCh38]
Chr5:95733074 [GRCh37]
Chr5:5q15
likely pathogenic
NM_001750.7(CAST):c.1373A>T (p.Asp458Val) single nucleotide variant Inborn genetic diseases [RCV003383777] Chr5:96748558 [GRCh38]
Chr5:96084262 [GRCh37]
Chr5:5q15
uncertain significance
NM_000439.5(PCSK1):c.700A>G (p.Lys234Glu) single nucleotide variant not provided [RCV000087170] Chr5:96416042 [GRCh38]
Chr5:95751746 [GRCh37]
Chr5:5q15
uncertain significance
NM_001750.7(CAST):c.230C>G (p.Ala77Gly) single nucleotide variant Inborn genetic diseases [RCV003365045] Chr5:96722658 [GRCh38]
Chr5:96058362 [GRCh37]
Chr5:5q15
uncertain significance
NM_000439.5(PCSK1):c.*2166C>T single nucleotide variant Monogenic Non-Syndromic Obesity [RCV000353213]|Obesity due to prohormone convertase I deficiency [RCV000397671] Chr5:96390835 [GRCh38]
Chr5:95726539 [GRCh37]
Chr5:5q15
uncertain significance
NM_000439.5(PCSK1):c.544-40_544-38del deletion not provided [RCV001527972] Chr5:96421994..96421996 [GRCh38]
Chr5:95757698..95757700 [GRCh37]
Chr5:5q15
benign
NM_000439.5(PCSK1):c.709+11G>A single nucleotide variant Monogenic Non-Syndromic Obesity [RCV000395731]|Obesity due to prohormone convertase I deficiency [RCV000338489] Chr5:96416022 [GRCh38]
Chr5:95751726 [GRCh37]
Chr5:5q15
uncertain significance
NM_000439.5(PCSK1):c.1692A>G (p.Ile564Met) single nucleotide variant Obesity due to prohormone convertase I deficiency [RCV001334451] Chr5:96397366 [GRCh38]
Chr5:95733070 [GRCh37]
Chr5:5q15
uncertain significance
NM_000439.5(PCSK1):c.*737_*739dup duplication Monogenic Non-Syndromic Obesity [RCV000345988]|Obesity due to prohormone convertase I deficiency [RCV000395546] Chr5:96392261..96392262 [GRCh38]
Chr5:95727965..95727966 [GRCh37]
Chr5:5q15
likely benign
NM_000439.5(PCSK1):c.2253G>A (p.Glu751=) single nucleotide variant Monogenic Non-Syndromic Obesity [RCV000383668]|Obesity due to prohormone convertase I deficiency [RCV000345441] Chr5:96393010 [GRCh38]
Chr5:95728714 [GRCh37]
Chr5:5q15
uncertain significance
NM_000439.5(PCSK1):c.*905T>C single nucleotide variant Monogenic Non-Syndromic Obesity [RCV000387259]|Obesity due to prohormone convertase I deficiency [RCV000349069] Chr5:96392096 [GRCh38]
Chr5:95727800 [GRCh37]
Chr5:5q15
uncertain significance
NM_001750.7(CAST):c.1382G>T (p.Arg461Leu) single nucleotide variant Inborn genetic diseases [RCV003350415] Chr5:96748567 [GRCh38]
Chr5:96084271 [GRCh37]
Chr5:5q15
uncertain significance
NM_000439.5(PCSK1):c.*1401C>T single nucleotide variant Monogenic Non-Syndromic Obesity [RCV000370187]|Obesity due to prohormone convertase I deficiency [RCV000395767] Chr5:96391600 [GRCh38]
Chr5:95727304 [GRCh37]
Chr5:5q15
uncertain significance
NM_000439.5(PCSK1):c.397-260G>A single nucleotide variant not provided [RCV001541403] Chr5:96423719 [GRCh38]
Chr5:95759423 [GRCh37]
Chr5:5q15
benign
NM_000439.5(PCSK1):c.*1530T>C single nucleotide variant Monogenic Non-Syndromic Obesity [RCV000342580]|Obesity due to prohormone convertase I deficiency [RCV000405998] Chr5:96391471 [GRCh38]
Chr5:95727175 [GRCh37]
Chr5:5q15
likely benign
NM_000439.5(PCSK1):c.397-19C>T single nucleotide variant not provided [RCV002198533] Chr5:96423478 [GRCh38]
Chr5:95759182 [GRCh37]
Chr5:5q15
likely benign
NM_000439.5(PCSK1):c.586C>T (p.Pro196Ser) single nucleotide variant not provided [RCV001863575] Chr5:96421914 [GRCh38]
Chr5:95757618 [GRCh37]
Chr5:5q15
uncertain significance
NM_000439.5(PCSK1):c.1196+19C>G single nucleotide variant not provided [RCV002795812] Chr5:96408204 [GRCh38]
Chr5:95743908 [GRCh37]
Chr5:5q15
benign
NM_000439.5(PCSK1):c.1686C>T (p.Asn562=) single nucleotide variant not provided [RCV002148003] Chr5:96397372 [GRCh38]
Chr5:95733076 [GRCh37]
Chr5:5q15
likely benign
NM_000439.5(PCSK1):c.625G>A (p.Gly209Arg) single nucleotide variant not provided [RCV002664371] Chr5:96416117 [GRCh38]
Chr5:95751821 [GRCh37]
Chr5:5q15
uncertain significance
NM_000439.5(PCSK1):c.1722+7G>A single nucleotide variant not provided [RCV002089967] Chr5:96397329 [GRCh38]
Chr5:95733033 [GRCh37]
Chr5:5q15
likely benign
NM_000439.5(PCSK1):c.285+1G>A single nucleotide variant not provided [RCV002696258] Chr5:96429212 [GRCh38]
Chr5:95764916 [GRCh37]
Chr5:5q15
likely pathogenic
NM_000439.5(PCSK1):c.910G>A (p.Val304Ile) single nucleotide variant not provided [RCV002904737] Chr5:96410959 [GRCh38]
Chr5:95746663 [GRCh37]
Chr5:5q15
uncertain significance
NM_000439.5(PCSK1):c.2236G>A (p.Val746Met) single nucleotide variant not provided [RCV003007311] Chr5:96393027 [GRCh38]
Chr5:95728731 [GRCh37]
Chr5:5q15
uncertain significance
NM_000439.5(PCSK1):c.80C>T (p.Ala27Val) single nucleotide variant not provided [RCV002927610] Chr5:96432963 [GRCh38]
Chr5:95768667 [GRCh37]
Chr5:5q15
uncertain significance
NM_000439.5(PCSK1):c.180+2T>A single nucleotide variant not provided [RCV002943832] Chr5:96432861 [GRCh38]
Chr5:95768565 [GRCh37]
Chr5:5q15
likely pathogenic
NM_000439.5(PCSK1):c.1405G>T (p.Val469Leu) single nucleotide variant Inborn genetic diseases [RCV002911146] Chr5:96399978 [GRCh38]
Chr5:95735682 [GRCh37]
Chr5:5q15
uncertain significance
NM_001750.7(CAST):c.454C>T (p.Gln152Ter) single nucleotide variant not provided [RCV003332464] Chr5:96729630 [GRCh38]
Chr5:96065334 [GRCh37]
Chr5:5q15
pathogenic
NM_000439.5(PCSK1):c.1457T>C (p.Ile486Thr) single nucleotide variant not provided [RCV003047461] Chr5:96399010 [GRCh38]
Chr5:95734714 [GRCh37]
Chr5:5q15
uncertain significance
NM_000439.5(PCSK1):c.1350G>C (p.Val450=) single nucleotide variant not provided [RCV003049399] Chr5:96400033 [GRCh38]
Chr5:95735737 [GRCh37]
Chr5:5q15
likely benign
NM_000439.5(PCSK1):c.1034A>C (p.Glu345Ala) single nucleotide variant not specified [RCV000202686] Chr5:96410835 [GRCh38]
Chr5:95746539 [GRCh37]
Chr5:5q15
uncertain significance
NM_000439.5(PCSK1):c.2145C>T (p.Asp715=) single nucleotide variant not provided [RCV000907005] Chr5:96393118 [GRCh38]
Chr5:95728822 [GRCh37]
Chr5:5q15
likely benign
NM_000439.5(PCSK1):c.-96C>T single nucleotide variant Monogenic Non-Syndromic Obesity [RCV000323901]|Obesity due to prohormone convertase I deficiency [RCV000266381] Chr5:96433138 [GRCh38]
Chr5:95768842 [GRCh37]
Chr5:5q15
uncertain significance
NM_000439.5(PCSK1):c.183T>C (p.Ile61=) single nucleotide variant not specified [RCV000502243] Chr5:96429315 [GRCh38]
Chr5:95765019 [GRCh37]
Chr5:5q15
likely benign
NM_000439.5(PCSK1):c.1257G>A (p.Pro419=) single nucleotide variant not provided [RCV000979620] Chr5:96400126 [GRCh38]
Chr5:95735830 [GRCh37]
Chr5:5q15
likely benign
NM_000439.5(PCSK1):c.1346T>C (p.Leu449Pro) single nucleotide variant Obesity due to prohormone convertase I deficiency [RCV000995598] Chr5:96400037 [GRCh38]
Chr5:95735741 [GRCh37]
Chr5:5q15
likely pathogenic
NM_000439.5(PCSK1):c.1503C>T (p.Ile501=) single nucleotide variant Monogenic Non-Syndromic Obesity [RCV000363149]|Obesity due to prohormone convertase I deficiency [RCV000334133] Chr5:96398964 [GRCh38]
Chr5:95734668 [GRCh37]
Chr5:5q15
uncertain significance
NM_000439.5(PCSK1):c.*1854T>A single nucleotide variant Monogenic Non-Syndromic Obesity [RCV000270498]|Obesity due to prohormone convertase I deficiency [RCV000369701] Chr5:96391147 [GRCh38]
Chr5:95726851 [GRCh37]
Chr5:5q15
uncertain significance
NM_000439.5(PCSK1):c.*2019A>G single nucleotide variant Monogenic Non-Syndromic Obesity [RCV000299659]|Obesity due to prohormone convertase I deficiency [RCV000368351] Chr5:96390982 [GRCh38]
Chr5:95726686 [GRCh37]
Chr5:5q15
uncertain significance
NM_000439.5(PCSK1):c.-21G>A single nucleotide variant Monogenic Non-Syndromic Obesity [RCV000358669]|Obesity due to prohormone convertase I deficiency [RCV000320312] Chr5:96433063 [GRCh38]
Chr5:95768767 [GRCh37]
Chr5:5q15
uncertain significance
NM_000439.5(PCSK1):c.1387G>A (p.Glu463Lys) single nucleotide variant OBESITY (BMIQ12), SUSCEPTIBILITY TO [RCV002481578]|not provided [RCV000497715] Chr5:96399996 [GRCh38]
Chr5:95735700 [GRCh37]
Chr5:5q15
conflicting interpretations of pathogenicity|uncertain significance
NM_000439.5(PCSK1):c.1124C>G (p.Thr375Arg) single nucleotide variant Inborn genetic diseases [RCV003272795] Chr5:96408295 [GRCh38]
Chr5:95743999 [GRCh37]
Chr5:5q15
uncertain significance
NM_000439.5(PCSK1):c.*1333A>T single nucleotide variant Monogenic Non-Syndromic Obesity [RCV000307358]|Obesity due to prohormone convertase I deficiency [RCV000364374] Chr5:96391668 [GRCh38]
Chr5:95727372 [GRCh37]
Chr5:5q15
uncertain significance
NM_000439.5(PCSK1):c.958G>C (p.Asp320His) single nucleotide variant Obesity due to prohormone convertase I deficiency [RCV000987545] Chr5:96410911 [GRCh38]
Chr5:95746615 [GRCh37]
Chr5:5q15
uncertain significance
NM_000439.5(PCSK1):c.710-13T>C single nucleotide variant not provided [RCV002654390] Chr5:96412503 [GRCh38]
Chr5:95748207 [GRCh37]
Chr5:5q15
likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:9043
Count of miRNA genes:1292
Interacting mature miRNAs:1650
Transcripts:ENST00000309190, ENST00000325674, ENST00000338252, ENST00000341926, ENST00000348386, ENST00000359176, ENST00000395812, ENST00000395813, ENST00000421689, ENST00000437034, ENST00000484552, ENST00000503828, ENST00000504221, ENST00000504465, ENST00000504532, ENST00000505143, ENST00000505402, ENST00000506811, ENST00000507487, ENST00000507836, ENST00000508117, ENST00000508197, ENST00000508579, ENST00000508608, ENST00000508830, ENST00000509259, ENST00000509529, ENST00000509903, ENST00000510098, ENST00000510156, ENST00000510245, ENST00000510500, ENST00000510756, ENST00000511049, ENST00000511097, ENST00000511782, ENST00000512191, ENST00000512620, ENST00000513666, ENST00000514055, ENST00000514845, ENST00000515063, ENST00000515160, ENST00000515663
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
A009U12  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37152,838,597 - 52,838,803UniSTSGRCh37
GRCh37596,039,873 - 96,040,857UniSTSGRCh37
Build 36152,611,185 - 52,611,391RGDNCBI36
Celera591,924,312 - 91,925,296UniSTS
Celera151,125,291 - 51,125,497RGD
Cytogenetic Map1p32UniSTS
Cytogenetic Map5q15UniSTS
HuRef150,954,600 - 50,954,806UniSTS
HuRef591,230,369 - 91,231,353UniSTS
GeneMap99-GB4 RH Map1151.6UniSTS
D5S2413  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37596,105,184 - 96,105,458UniSTSGRCh37
Build 36596,130,940 - 96,131,214RGDNCBI36
Celera591,989,606 - 91,989,880RGD
Cytogenetic Map5q15UniSTS
HuRef591,295,436 - 91,295,710UniSTS
Whitehead-YAC Contig Map5 UniSTS
RH47549  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37596,096,577 - 96,096,739UniSTSGRCh37
Build 36596,122,333 - 96,122,495RGDNCBI36
Celera591,981,000 - 91,981,162RGD
Cytogenetic Map5q15UniSTS
HuRef591,286,832 - 91,286,994UniSTS
GeneMap99-GB4 RH Map5415.35UniSTS
NCBI RH Map5597.9UniSTS
RH77935  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37596,015,180 - 96,015,309UniSTSGRCh37
Build 36596,040,936 - 96,041,065RGDNCBI36
Celera591,899,619 - 91,899,748RGD
Cytogenetic Map5q15UniSTS
HuRef591,205,663 - 91,205,792UniSTS
GeneMap99-GB4 RH Map5417.89UniSTS
NCBI RH Map5591.4UniSTS
PMC310823P10  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37596,082,859 - 96,082,968UniSTSGRCh37
Build 36596,108,615 - 96,108,724RGDNCBI36
Celera591,967,298 - 91,967,407RGD
Cytogenetic Map5q15UniSTS
HuRef591,273,129 - 91,273,238UniSTS
RH69827  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37596,108,761 - 96,108,895UniSTSGRCh37
Build 36596,134,517 - 96,134,651RGDNCBI36
Celera591,993,183 - 91,993,317RGD
Cytogenetic Map5q15UniSTS
HuRef591,299,012 - 91,299,146UniSTS
GeneMap99-GB4 RH Map5419.82UniSTS
NCBI RH Map5591.4UniSTS
ARTS-1__4376  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37596,096,487 - 96,097,274UniSTSGRCh37
Build 36596,122,243 - 96,123,030RGDNCBI36
Celera591,980,910 - 91,981,697RGD
HuRef591,286,742 - 91,287,529UniSTS
RH46487  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37596,090,824 - 96,090,949UniSTSGRCh37
GRCh37163,726,192 - 63,726,359UniSTSGRCh37
Build 36163,498,780 - 63,498,947RGDNCBI36
Celera591,975,247 - 91,975,372UniSTS
Celera162,015,876 - 62,016,043RGD
Cytogenetic Map5q15UniSTS
Cytogenetic Map11p15.4UniSTS
HuRef591,281,079 - 91,281,204UniSTS
HuRef118,983,363 - 8,983,484UniSTS
GeneMap99-GB4 RH Map5119.98UniSTS
WI-18741  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37596,115,047 - 96,115,174UniSTSGRCh37
Build 36596,140,803 - 96,140,930RGDNCBI36
Celera591,999,461 - 91,999,588RGD
Cytogenetic Map5q15UniSTS
HuRef591,305,306 - 91,305,433UniSTS
GeneMap99-GB4 RH Map5417.89UniSTS
Whitehead-RH Map5315.1UniSTS
RH79021  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37596,083,626 - 96,083,801UniSTSGRCh37
Build 36596,109,382 - 96,109,557RGDNCBI36
Celera591,968,065 - 91,968,240RGD
Cytogenetic Map5q15UniSTS
HuRef591,273,896 - 91,274,071UniSTS
GeneMap99-GB4 RH Map5417.89UniSTS
NCBI RH Map5591.4UniSTS
D5S2667  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37596,108,762 - 96,108,891UniSTSGRCh37
Build 36596,134,518 - 96,134,647RGDNCBI36
Celera591,993,184 - 91,993,313RGD
Cytogenetic Map5q15UniSTS
HuRef591,299,013 - 91,299,142UniSTS
D5S1571E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37596,110,184 - 96,110,309UniSTSGRCh37
Build 36596,135,940 - 96,136,065RGDNCBI36
Celera591,994,606 - 91,994,731RGD
Cytogenetic Map5q15UniSTS
HuRef591,300,435 - 91,300,560UniSTS
GeneMap99-GB4 RH Map5419.82UniSTS
NCBI RH Map5591.4UniSTS
D5S2629  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37596,105,274 - 96,105,411UniSTSGRCh37
Build 36596,131,030 - 96,131,167RGDNCBI36
Celera591,989,696 - 91,989,833RGD
Cytogenetic Map5q15UniSTS
HuRef591,295,526 - 91,295,663UniSTS
Stanford-G3 RH Map53519.0UniSTS
NCBI RH Map5591.4UniSTS
GeneMap99-G3 RH Map53514.0UniSTS
RH70772  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37596,110,228 - 96,110,311UniSTSGRCh37
Build 36596,135,984 - 96,136,067RGDNCBI36
Celera591,994,650 - 91,994,733RGD
Cytogenetic Map5q15UniSTS
HuRef591,300,479 - 91,300,562UniSTS
GeneMap99-GB4 RH Map5419.82UniSTS
NCBI RH Map5591.4UniSTS
STS-D29461  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map5q15UniSTS
HuRef591,300,327 - 91,300,557UniSTS
GeneMap99-GB4 RH Map5421.04UniSTS
WI-7819  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map5q15UniSTS
Whitehead-YAC Contig Map5 UniSTS
RH36372  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map5q15UniSTS
GeneMap99-GB4 RH Map1118.47UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2432 2895 1685 589 1890 432 4349 2133 2504 411 1441 1598 173 1204 2788 4
Low 7 96 41 35 58 33 8 64 1228 8 19 15 2 1 2 2
Below cutoff 3 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_029490 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001042440 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001042441 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001042442 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001042443 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001042444 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001042445 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001042446 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001190442 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001284212 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001284213 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001330626 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001330627 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001330628 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001330629 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001330630 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001330631 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001330632 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001330633 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001330634 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001375317 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001423250 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001423251 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001423252 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001423253 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001423254 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001423255 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001423256 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001423257 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001423258 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001423259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001423260 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001750 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_173060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_104285 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_186779 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_186780 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB026049 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB208816 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC008592 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC008906 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC008951 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC020900 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC025440 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC099509 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC104123 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC104125 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC108107 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF095891 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF327443 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH002656 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH002724 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK098137 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK292289 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK292356 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296919 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297879 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298541 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299384 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299402 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300624 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302206 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303836 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303900 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK311585 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK311598 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314290 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315146 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315673 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL045308 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL832174 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL832349 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY189741 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC016066 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC078149 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM676369 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ420953 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ893654 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ940454 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT009783 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX648397 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA775469 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD702474 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471084 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D16217 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D50827 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB033043 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB450697 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC424542 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DR004967 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY159082 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC877037 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC877041 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KX533486 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M33328 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M86258 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF577037 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK585065 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S73329 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U26724 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U31345 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U31346 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U38525 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U58996 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U83601 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000309190   ⟹   ENSP00000312523
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl596,702,801 - 96,774,683 (+)Ensembl
RefSeq Acc Id: ENST00000325674   ⟹   ENSP00000320319
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl596,743,627 - 96,774,679 (+)Ensembl
RefSeq Acc Id: ENST00000338252   ⟹   ENSP00000343421
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl596,662,073 - 96,773,233 (+)Ensembl
RefSeq Acc Id: ENST00000341926   ⟹   ENSP00000339914
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl596,695,785 - 96,772,814 (+)Ensembl
RefSeq Acc Id: ENST00000348386
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl596,728,309 - 96,772,819 (+)Ensembl
RefSeq Acc Id: ENST00000395812   ⟹   ENSP00000379157
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl596,662,237 - 96,774,683 (+)Ensembl
RefSeq Acc Id: ENST00000395813   ⟹   ENSP00000379158
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl596,702,789 - 96,774,679 (+)Ensembl
RefSeq Acc Id: ENST00000421689   ⟹   ENSP00000396558
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl596,662,423 - 96,741,317 (+)Ensembl
RefSeq Acc Id: ENST00000437034   ⟹   ENSP00000412374
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl596,741,342 - 96,774,683 (+)Ensembl
RefSeq Acc Id: ENST00000484552   ⟹   ENSP00000432878
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl596,743,569 - 96,773,412 (+)Ensembl
RefSeq Acc Id: ENST00000503828   ⟹   ENSP00000422807
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl596,742,221 - 96,747,399 (+)Ensembl
RefSeq Acc Id: ENST00000504221
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl596,702,806 - 96,715,108 (+)Ensembl
RefSeq Acc Id: ENST00000504465   ⟹   ENSP00000425670
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl596,702,806 - 96,772,892 (+)Ensembl
RefSeq Acc Id: ENST00000504532
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl596,728,588 - 96,729,703 (+)Ensembl
RefSeq Acc Id: ENST00000505143   ⟹   ENSP00000422957
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl596,529,821 - 96,740,118 (+)Ensembl
RefSeq Acc Id: ENST00000505402
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl596,695,877 - 96,714,971 (+)Ensembl
RefSeq Acc Id: ENST00000506811   ⟹   ENSP00000427092
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl596,663,025 - 96,729,691 (+)Ensembl
RefSeq Acc Id: ENST00000507487
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl596,662,403 - 96,726,859 (+)Ensembl
RefSeq Acc Id: ENST00000507836
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl596,662,428 - 96,679,632 (+)Ensembl
RefSeq Acc Id: ENST00000508117   ⟹   ENSP00000422466
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl596,702,803 - 96,736,187 (+)Ensembl
RefSeq Acc Id: ENST00000508197   ⟹   ENSP00000422831
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl596,702,857 - 96,740,104 (+)Ensembl
RefSeq Acc Id: ENST00000508579   ⟹   ENSP00000425787
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl596,741,874 - 96,772,813 (+)Ensembl
RefSeq Acc Id: ENST00000508608   ⟹   ENSP00000422677
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl596,663,025 - 96,772,977 (+)Ensembl
RefSeq Acc Id: ENST00000508830   ⟹   ENSP00000425721
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl596,662,074 - 96,771,679 (+)Ensembl
RefSeq Acc Id: ENST00000509259   ⟹   ENSP00000423846
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl596,742,195 - 96,750,621 (+)Ensembl
RefSeq Acc Id: ENST00000509529
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl596,768,948 - 96,773,054 (+)Ensembl
RefSeq Acc Id: ENST00000509602
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl596,525,267 - 96,546,518 (+)Ensembl
RefSeq Acc Id: ENST00000509903   ⟹   ENSP00000426946
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl596,702,806 - 96,771,679 (+)Ensembl
RefSeq Acc Id: ENST00000510098   ⟹   ENSP00000427195
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl596,757,586 - 96,779,595 (+)Ensembl
RefSeq Acc Id: ENST00000510156   ⟹   ENSP00000422325
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl596,702,802 - 96,767,482 (+)Ensembl
RefSeq Acc Id: ENST00000510245
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl596,663,021 - 96,675,953 (+)Ensembl
RefSeq Acc Id: ENST00000510500   ⟹   ENSP00000424160
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl596,741,325 - 96,773,055 (+)Ensembl
RefSeq Acc Id: ENST00000510756   ⟹   ENSP00000422176
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl596,703,222 - 96,772,798 (+)Ensembl
RefSeq Acc Id: ENST00000511049   ⟹   ENSP00000421130
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl596,702,800 - 96,773,570 (+)Ensembl
RefSeq Acc Id: ENST00000511097   ⟹   ENSP00000422951
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl596,662,203 - 96,746,425 (+)Ensembl
RefSeq Acc Id: ENST00000511782   ⟹   ENSP00000423638
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl596,702,806 - 96,772,786 (+)Ensembl
RefSeq Acc Id: ENST00000512191
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl596,743,673 - 96,748,717 (+)Ensembl
RefSeq Acc Id: ENST00000512620   ⟹   ENSP00000426422
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl596,662,475 - 96,741,585 (+)Ensembl
RefSeq Acc Id: ENST00000513666
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl596,702,843 - 96,755,196 (+)Ensembl
RefSeq Acc Id: ENST00000514055   ⟹   ENSP00000421230
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl596,663,025 - 96,729,725 (+)Ensembl
RefSeq Acc Id: ENST00000514845   ⟹   ENSP00000422612
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl596,663,000 - 96,730,849 (+)Ensembl
RefSeq Acc Id: ENST00000515063
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl596,736,176 - 96,741,809 (+)Ensembl
RefSeq Acc Id: ENST00000515160
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl596,662,403 - 96,696,294 (+)Ensembl
RefSeq Acc Id: ENST00000515663   ⟹   ENSP00000422929
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl596,743,540 - 96,772,706 (+)Ensembl
RefSeq Acc Id: ENST00000674587   ⟹   ENSP00000501797
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl596,702,806 - 96,774,661 (+)Ensembl
RefSeq Acc Id: ENST00000674702   ⟹   ENSP00000502345
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl596,662,330 - 96,774,475 (+)Ensembl
RefSeq Acc Id: ENST00000674984   ⟹   ENSP00000501713
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl596,662,423 - 96,774,636 (+)Ensembl
RefSeq Acc Id: ENST00000675033   ⟹   ENSP00000501659
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl596,702,826 - 96,774,654 (+)Ensembl
RefSeq Acc Id: ENST00000675107
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl596,662,055 - 96,755,143 (+)Ensembl
RefSeq Acc Id: ENST00000675179   ⟹   ENSP00000501872
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl596,662,376 - 96,774,683 (+)Ensembl
RefSeq Acc Id: ENST00000675185   ⟹   ENSP00000501838
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl596,750,655 - 96,774,631 (+)Ensembl
RefSeq Acc Id: ENST00000675266   ⟹   ENSP00000502619
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl596,695,836 - 96,774,661 (+)Ensembl
RefSeq Acc Id: ENST00000675267   ⟹   ENSP00000502095
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl596,663,031 - 96,774,477 (+)Ensembl
RefSeq Acc Id: ENST00000675275   ⟹   ENSP00000501916
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl596,750,601 - 96,772,922 (+)Ensembl
RefSeq Acc Id: ENST00000675479   ⟹   ENSP00000502244
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl596,703,188 - 96,774,312 (+)Ensembl
RefSeq Acc Id: ENST00000675614   ⟹   ENSP00000502136
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl596,702,781 - 96,773,041 (+)Ensembl
RefSeq Acc Id: ENST00000675663   ⟹   ENSP00000502449
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl596,663,004 - 96,774,481 (+)Ensembl
RefSeq Acc Id: ENST00000675734
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl596,752,052 - 96,772,810 (+)Ensembl
RefSeq Acc Id: ENST00000675858   ⟹   ENSP00000501780
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl596,702,800 - 96,773,142 (+)Ensembl
RefSeq Acc Id: NM_001042440   ⟹   NP_001035905
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38596,662,376 - 96,774,683 (+)NCBI
GRCh37595,997,741 - 96,110,387 (+)ENTREZGENE
Build 36596,023,697 - 96,136,143 (+)NCBI Archive
HuRef591,188,220 - 91,300,638 (+)ENTREZGENE
CHM1_1595,430,562 - 95,543,106 (+)NCBI
T2T-CHM13v2.0597,163,210 - 97,275,514 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001042441   ⟹   NP_001035906
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38596,662,376 - 96,774,683 (+)NCBI
Build 36596,023,697 - 96,136,143 (+)NCBI Archive
T2T-CHM13v2.0597,163,210 - 97,275,514 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001042442   ⟹   NP_001035907
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38596,662,376 - 96,774,683 (+)NCBI
Build 36596,023,697 - 96,136,143 (+)NCBI Archive
T2T-CHM13v2.0597,163,210 - 97,275,514 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001042443   ⟹   NP_001035908
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38596,702,806 - 96,774,683 (+)NCBI
Build 36596,064,252 - 96,136,143 (+)NCBI Archive
T2T-CHM13v2.0597,203,661 - 97,275,514 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001042444   ⟹   NP_001035909
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38596,702,806 - 96,774,683 (+)NCBI
Build 36596,064,252 - 96,136,143 (+)NCBI Archive
T2T-CHM13v2.0597,203,661 - 97,275,514 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001042445   ⟹   NP_001035910
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38596,702,806 - 96,774,683 (+)NCBI
Build 36596,064,252 - 96,136,143 (+)NCBI Archive
T2T-CHM13v2.0597,203,661 - 97,275,514 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001042446   ⟹   NP_001035911
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38596,702,806 - 96,774,683 (+)NCBI
Build 36596,064,252 - 96,136,143 (+)NCBI Archive
T2T-CHM13v2.0597,203,661 - 97,275,514 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001190442   ⟹   NP_001177371
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38596,662,037 - 96,774,683 (+)NCBI
GRCh37595,997,741 - 96,110,387 (+)ENTREZGENE
HuRef591,188,220 - 91,300,638 (+)ENTREZGENE
CHM1_1595,430,442 - 95,543,106 (+)NCBI
T2T-CHM13v2.0597,162,871 - 97,275,514 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001284212   ⟹   NP_001271141
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38596,702,806 - 96,774,683 (+)NCBI
HuRef591,188,220 - 91,300,638 (+)NCBI
CHM1_1595,471,237 - 95,541,242 (+)NCBI
T2T-CHM13v2.0597,203,661 - 97,275,514 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001284213   ⟹   NP_001271142
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38596,702,806 - 96,774,683 (+)NCBI
HuRef591,188,220 - 91,300,638 (+)NCBI
CHM1_1595,471,237 - 95,543,106 (+)NCBI
T2T-CHM13v2.0597,203,661 - 97,275,514 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001330626   ⟹   NP_001317555
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38596,662,376 - 96,774,683 (+)NCBI
T2T-CHM13v2.0597,163,210 - 97,275,514 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001330627   ⟹   NP_001317556
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38596,662,376 - 96,774,683 (+)NCBI
T2T-CHM13v2.0597,163,210 - 97,275,514 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001330628   ⟹   NP_001317557
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38596,663,025 - 96,774,683 (+)NCBI
T2T-CHM13v2.0597,163,869 - 97,275,514 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001330629   ⟹   NP_001317558
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38596,663,025 - 96,774,683 (+)NCBI
T2T-CHM13v2.0597,163,869 - 97,275,514 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001330630   ⟹   NP_001317559
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38596,702,806 - 96,774,683 (+)NCBI
T2T-CHM13v2.0597,203,661 - 97,275,514 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001330631   ⟹   NP_001317560
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38596,702,806 - 96,774,683 (+)NCBI
T2T-CHM13v2.0597,203,661 - 97,275,514 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001330632   ⟹   NP_001317561
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38596,702,806 - 96,774,683 (+)NCBI
T2T-CHM13v2.0597,203,661 - 97,275,514 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001330633   ⟹   NP_001317562
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38596,702,806 - 96,774,683 (+)NCBI
T2T-CHM13v2.0597,203,661 - 97,275,514 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001330634   ⟹   NP_001317563
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38596,702,806 - 96,774,683 (+)NCBI
T2T-CHM13v2.0597,203,661 - 97,275,514 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001375317   ⟹   NP_001362246
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38596,663,025 - 96,774,683 (+)NCBI
T2T-CHM13v2.0597,163,869 - 97,275,514 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001423250   ⟹   NP_001410179
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38595,962,001 - 96,774,683 (+)NCBI
T2T-CHM13v2.0596,463,322 - 97,275,514 (+)NCBI
RefSeq Acc Id: NM_001423251   ⟹   NP_001410180
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38595,962,001 - 96,774,683 (+)NCBI
T2T-CHM13v2.0596,463,322 - 97,275,514 (+)NCBI
RefSeq Acc Id: NM_001423252   ⟹   NP_001410181
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38596,050,123 - 96,774,683 (+)NCBI
T2T-CHM13v2.0596,551,107 - 97,275,514 (+)NCBI
RefSeq Acc Id: NM_001423253   ⟹   NP_001410182
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38595,961,429 - 96,774,683 (+)NCBI
T2T-CHM13v2.0596,462,750 - 97,275,514 (+)NCBI
RefSeq Acc Id: NM_001423254   ⟹   NP_001410183
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38595,961,429 - 96,774,683 (+)NCBI
T2T-CHM13v2.0596,462,750 - 97,275,514 (+)NCBI
RefSeq Acc Id: NM_001423255   ⟹   NP_001410184
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38595,961,429 - 96,774,683 (+)NCBI
T2T-CHM13v2.0596,462,750 - 97,275,514 (+)NCBI
RefSeq Acc Id: NM_001423256   ⟹   NP_001410185
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38595,962,001 - 96,774,683 (+)NCBI
T2T-CHM13v2.0596,463,322 - 97,275,514 (+)NCBI
RefSeq Acc Id: NM_001423257   ⟹   NP_001410186
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38596,050,123 - 96,774,683 (+)NCBI
T2T-CHM13v2.0596,551,107 - 97,275,514 (+)NCBI
RefSeq Acc Id: NM_001423258   ⟹   NP_001410187
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38596,050,123 - 96,774,683 (+)NCBI
T2T-CHM13v2.0596,551,107 - 97,275,514 (+)NCBI
RefSeq Acc Id: NM_001423259   ⟹   NP_001410188
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38595,961,429 - 96,774,683 (+)NCBI
T2T-CHM13v2.0596,462,750 - 97,275,514 (+)NCBI
RefSeq Acc Id: NM_001423260   ⟹   NP_001410189
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38596,050,123 - 96,774,683 (+)NCBI
T2T-CHM13v2.0596,551,107 - 97,275,514 (+)NCBI
RefSeq Acc Id: NM_001750   ⟹   NP_001741
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38596,662,376 - 96,774,683 (+)NCBI
Build 36596,023,697 - 96,136,143 (+)NCBI Archive
T2T-CHM13v2.0597,163,210 - 97,275,514 (+)NCBI
Sequence:
RefSeq Acc Id: NM_173060   ⟹   NP_775083
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38596,702,806 - 96,774,683 (+)NCBI
GRCh37595,997,741 - 96,110,387 (+)ENTREZGENE
Build 36596,064,252 - 96,136,143 (+)NCBI Archive
HuRef591,188,220 - 91,300,638 (+)ENTREZGENE
CHM1_1595,471,237 - 95,543,106 (+)NCBI
T2T-CHM13v2.0597,203,661 - 97,275,514 (+)NCBI
Sequence:
RefSeq Acc Id: NR_104285
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38596,743,602 - 96,773,412 (+)NCBI
HuRef591,188,220 - 91,300,638 (+)NCBI
CHM1_1595,511,988 - 95,541,835 (+)NCBI
T2T-CHM13v2.0597,244,450 - 97,274,243 (+)NCBI
Sequence:
RefSeq Acc Id: NR_186779
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38595,961,429 - 96,381,455 (+)NCBI
T2T-CHM13v2.0596,462,750 - 96,882,440 (+)NCBI
RefSeq Acc Id: NR_186780
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38596,050,123 - 96,215,364 (+)NCBI
T2T-CHM13v2.0596,551,107 - 96,716,329 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001035905 (Get FASTA)   NCBI Sequence Viewer  
  NP_001035906 (Get FASTA)   NCBI Sequence Viewer  
  NP_001035907 (Get FASTA)   NCBI Sequence Viewer  
  NP_001035908 (Get FASTA)   NCBI Sequence Viewer  
  NP_001035909 (Get FASTA)   NCBI Sequence Viewer  
  NP_001035910 (Get FASTA)   NCBI Sequence Viewer  
  NP_001035911 (Get FASTA)   NCBI Sequence Viewer  
  NP_001177371 (Get FASTA)   NCBI Sequence Viewer  
  NP_001271141 (Get FASTA)   NCBI Sequence Viewer  
  NP_001271142 (Get FASTA)   NCBI Sequence Viewer  
  NP_001317555 (Get FASTA)   NCBI Sequence Viewer  
  NP_001317556 (Get FASTA)   NCBI Sequence Viewer  
  NP_001317557 (Get FASTA)   NCBI Sequence Viewer  
  NP_001317558 (Get FASTA)   NCBI Sequence Viewer  
  NP_001317559 (Get FASTA)   NCBI Sequence Viewer  
  NP_001317560 (Get FASTA)   NCBI Sequence Viewer  
  NP_001317561 (Get FASTA)   NCBI Sequence Viewer  
  NP_001317562 (Get FASTA)   NCBI Sequence Viewer  
  NP_001317563 (Get FASTA)   NCBI Sequence Viewer  
  NP_001362246 (Get FASTA)   NCBI Sequence Viewer  
  NP_001410179 (Get FASTA)   NCBI Sequence Viewer  
  NP_001410180 (Get FASTA)   NCBI Sequence Viewer  
  NP_001410181 (Get FASTA)   NCBI Sequence Viewer  
  NP_001410182 (Get FASTA)   NCBI Sequence Viewer  
  NP_001410183 (Get FASTA)   NCBI Sequence Viewer  
  NP_001410184 (Get FASTA)   NCBI Sequence Viewer  
  NP_001410185 (Get FASTA)   NCBI Sequence Viewer  
  NP_001410186 (Get FASTA)   NCBI Sequence Viewer  
  NP_001410187 (Get FASTA)   NCBI Sequence Viewer  
  NP_001410188 (Get FASTA)   NCBI Sequence Viewer  
  NP_001410189 (Get FASTA)   NCBI Sequence Viewer  
  NP_001741 (Get FASTA)   NCBI Sequence Viewer  
  NP_775083 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA52066 (Get FASTA)   NCBI Sequence Viewer  
  AAA52296 (Get FASTA)   NCBI Sequence Viewer  
  AAA52759 (Get FASTA)   NCBI Sequence Viewer  
  AAA80684 (Get FASTA)   NCBI Sequence Viewer  
  AAB32311 (Get FASTA)   NCBI Sequence Viewer  
  AAB41237 (Get FASTA)   NCBI Sequence Viewer  
  AAB59398 (Get FASTA)   NCBI Sequence Viewer  
  AAB60371 (Get FASTA)   NCBI Sequence Viewer  
  AAB60372 (Get FASTA)   NCBI Sequence Viewer  
  AAC14353 (Get FASTA)   NCBI Sequence Viewer  
  AAC50136 (Get FASTA)   NCBI Sequence Viewer  
  AAD09102 (Get FASTA)   NCBI Sequence Viewer  
  AAG48151 (Get FASTA)   NCBI Sequence Viewer  
  AAH16066 (Get FASTA)   NCBI Sequence Viewer  
  AAH78149 (Get FASTA)   NCBI Sequence Viewer  
  AAO34397 (Get FASTA)   NCBI Sequence Viewer  
  AAP88785 (Get FASTA)   NCBI Sequence Viewer  
  AQN67639 (Get FASTA)   NCBI Sequence Viewer  
  AYA60070 (Get FASTA)   NCBI Sequence Viewer  
  BAA03747 (Get FASTA)   NCBI Sequence Viewer  
  BAA09438 (Get FASTA)   NCBI Sequence Viewer  
  BAA76923 (Get FASTA)   NCBI Sequence Viewer  
  BAD92053 (Get FASTA)   NCBI Sequence Viewer  
  BAF84978 (Get FASTA)   NCBI Sequence Viewer  
  BAF85045 (Get FASTA)   NCBI Sequence Viewer  
  BAG37594 (Get FASTA)   NCBI Sequence Viewer  
  BAG38038 (Get FASTA)   NCBI Sequence Viewer  
  BAH12454 (Get FASTA)   NCBI Sequence Viewer  
  BAH12685 (Get FASTA)   NCBI Sequence Viewer  
  BAH12810 (Get FASTA)   NCBI Sequence Viewer  
  BAH13022 (Get FASTA)   NCBI Sequence Viewer  
  BAH13025 (Get FASTA)   NCBI Sequence Viewer  
  BAH13316 (Get FASTA)   NCBI Sequence Viewer  
  BAH13650 (Get FASTA)   NCBI Sequence Viewer  
  BAH14064 (Get FASTA)   NCBI Sequence Viewer  
  BAH14077 (Get FASTA)   NCBI Sequence Viewer  
  EAW96064 (Get FASTA)   NCBI Sequence Viewer  
  EAW96065 (Get FASTA)   NCBI Sequence Viewer  
  EAW96066 (Get FASTA)   NCBI Sequence Viewer  
  EAW96067 (Get FASTA)   NCBI Sequence Viewer  
  EAW96068 (Get FASTA)   NCBI Sequence Viewer  
  EAW96069 (Get FASTA)   NCBI Sequence Viewer  
  EAW96070 (Get FASTA)   NCBI Sequence Viewer  
  EAW96071 (Get FASTA)   NCBI Sequence Viewer  
  EAW96072 (Get FASTA)   NCBI Sequence Viewer  
  EAW96073 (Get FASTA)   NCBI Sequence Viewer  
  EAW96074 (Get FASTA)   NCBI Sequence Viewer  
  EAW96075 (Get FASTA)   NCBI Sequence Viewer  
  EAW96076 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000312523
  ENSP00000312523.5
  ENSP00000320319.8
  ENSP00000339914.3
  ENSP00000343421
  ENSP00000343421.3
  ENSP00000379157
  ENSP00000379157.2
  ENSP00000379158
  ENSP00000379158.2
  ENSP00000396558.2
  ENSP00000412374.2
  ENSP00000421130.1
  ENSP00000421230.1
  ENSP00000422176.2
  ENSP00000422325.1
  ENSP00000422466.1
  ENSP00000422612.1
  ENSP00000422677.2
  ENSP00000422807.1
  ENSP00000422831.1
  ENSP00000422929.1
  ENSP00000422951.2
  ENSP00000422957.1
  ENSP00000423638.1
  ENSP00000423846.1
  ENSP00000424160.1
  ENSP00000425670
  ENSP00000425670.1
  ENSP00000425721.1
  ENSP00000425787.1
  ENSP00000426422.1
  ENSP00000426946
  ENSP00000426946.1
  ENSP00000427092.1
  ENSP00000427195.1
  ENSP00000432878.2
  ENSP00000501659
  ENSP00000501659.1
  ENSP00000501713
  ENSP00000501713.1
  ENSP00000501780.1
  ENSP00000501797
  ENSP00000501797.1
  ENSP00000501838.1
  ENSP00000501872
  ENSP00000501872.1
  ENSP00000501916.1
  ENSP00000502095.1
  ENSP00000502136
  ENSP00000502136.1
  ENSP00000502244
  ENSP00000502244.1
  ENSP00000502345
  ENSP00000502345.1
  ENSP00000502449
  ENSP00000502449.1
  ENSP00000502619.1
GenBank Protein P20810 (Get FASTA)   NCBI Sequence Viewer  
  QBX89659 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001177371   ⟸   NM_001190442
- Peptide Label: isoform m
- UniProtKB: B7Z4U9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001035905   ⟸   NM_001042440
- Peptide Label: isoform f
- UniProtKB: A0A6Q8PGN6 (UniProtKB/TrEMBL)
- Sequence: