ADAMTS3 (ADAM metallopeptidase with thrombospondin type 1 motif 3) - Rat Genome Database

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Gene: ADAMTS3 (ADAM metallopeptidase with thrombospondin type 1 motif 3) Homo sapiens
Analyze
Symbol: ADAMTS3
Name: ADAM metallopeptidase with thrombospondin type 1 motif 3
RGD ID: 1321838
HGNC Page HGNC:219
Description: Enables endopeptidase activity. Involved in collagen biosynthetic process; gene expression; and positive regulation of vascular endothelial growth factor signaling pathway. Located in extracellular space. Implicated in Hennekam syndrome.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: A disintegrin and metalloproteinase with thrombospondin motifs 3; a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3; ADAM metallopeptidase with thrombospondin type 1 motif, 3; ADAM-TS 3; ADAM-TS3; ADAMTS-3; ADAMTS-4; HKLLS3; KIAA0366; PC II-NP; procollagen II amino propeptide-processing enzyme; procollagen II N-proteinase; zinc metalloendopeptidase
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
GRCh38472,280,969 - 72,569,221 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl472,280,969 - 72,569,221 (-)EnsemblGRCh38hg38GRCh38
GRCh37473,146,686 - 73,434,938 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36473,365,551 - 73,653,380 (-)NCBINCBI36Build 36hg18NCBI36
Build 34473,511,721 - 73,799,551NCBI
Celera470,502,659 - 70,790,668 (-)NCBICelera
Cytogenetic Map4q13.3NCBI
HuRef468,951,493 - 69,241,512 (-)NCBIHuRef
CHM1_1473,182,184 - 73,470,272 (-)NCBICHM1_1
T2T-CHM13v2.0475,623,227 - 75,912,559 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal dental morphology  (IAGP)
Abnormal facial shape  (IAGP)
Abnormal foot morphology  (IAGP)
Abnormal oral mucosa morphology  (IAGP)
Abnormal pinna morphology  (IAGP)
Anteverted nares  (IAGP)
Arteriovenous malformation  (IAGP)
Ascites  (IAGP)
Autosomal recessive inheritance  (IAGP)
Benign neoplasm of the central nervous system  (IAGP)
Broad forehead  (IAGP)
Camptodactyly of finger  (IAGP)
Chylothorax  (IAGP)
Conductive hearing impairment  (IAGP)
Congenital onset  (IAGP)
Craniosynostosis  (IAGP)
Decreased circulating antibody level  (IAGP)
Delayed eruption of teeth  (IAGP)
Depressed nasal bridge  (IAGP)
Ectopic kidney  (IAGP)
Epicanthus  (IAGP)
Erysipelas  (IAGP)
Feeding difficulties  (IAGP)
Finger syndactyly  (IAGP)
Flat face  (IAGP)
Gingival overgrowth  (IAGP)
Glaucoma  (IAGP)
Horseshoe kidney  (IAGP)
Hydrocele testis  (IAGP)
Hydrops fetalis  (IAGP)
Hypertelorism  (IAGP)
Hypocalcemia  (IAGP)
Intellectual disability  (IAGP)
Low-set ears  (IAGP)
Lymphadenopathy  (IAGP)
Lymphangioma  (IAGP)
Lymphedema  (IAGP)
Lymphopenia  (IAGP)
Malabsorption  (IAGP)
Migraine  (IAGP)
Mild postnatal growth retardation  (IAGP)
Narrow chest  (IAGP)
Narrow mouth  (IAGP)
Pachygyria  (IAGP)
Pericardial effusion  (IAGP)
Polyhydramnios  (IAGP)
Prostate cancer  (IAGP)
Protein-losing enteropathy  (IAGP)
Pulmonary lymphangiectasia  (IAGP)
Pyloric stenosis  (IAGP)
Recurrent respiratory infections  (IAGP)
Respiratory insufficiency  (IAGP)
Retrognathia  (IAGP)
Seizure  (IAGP)
Short philtrum  (IAGP)
Sparse axillary hair  (IAGP)
Splenomegaly  (IAGP)
Spontaneous pneumothorax  (IAGP)
Strabismus  (IAGP)
Supernumerary tooth  (IAGP)
Synophrys  (IAGP)
Tooth agenesis  (IAGP)
Upslanted palpebral fissure  (IAGP)
Wide nasal bridge  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:9205841   PMID:10094461   PMID:10464288   PMID:11167130   PMID:11408482   PMID:11741898   PMID:11812023   PMID:11831030   PMID:12477932   PMID:15708897   PMID:19199708   PMID:20881960  
PMID:21546767   PMID:21822266   PMID:21873635   PMID:22205175   PMID:22261194   PMID:22286219   PMID:22916037   PMID:23259602   PMID:23333304   PMID:24552833   PMID:24752352   PMID:25261644  
PMID:25429064   PMID:25863161   PMID:26232334   PMID:26622631   PMID:28088271   PMID:28796414   PMID:28985353   PMID:29507755   PMID:29518549   PMID:30021884   PMID:30450763   PMID:32296183  
PMID:37336268  


Genomics

Comparative Map Data
ADAMTS3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38472,280,969 - 72,569,221 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl472,280,969 - 72,569,221 (-)EnsemblGRCh38hg38GRCh38
GRCh37473,146,686 - 73,434,938 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36473,365,551 - 73,653,380 (-)NCBINCBI36Build 36hg18NCBI36
Build 34473,511,721 - 73,799,551NCBI
Celera470,502,659 - 70,790,668 (-)NCBICelera
Cytogenetic Map4q13.3NCBI
HuRef468,951,493 - 69,241,512 (-)NCBIHuRef
CHM1_1473,182,184 - 73,470,272 (-)NCBICHM1_1
T2T-CHM13v2.0475,623,227 - 75,912,559 (-)NCBIT2T-CHM13v2.0
Adamts3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39589,821,700 - 90,031,521 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl589,824,946 - 90,031,193 (-)EnsemblGRCm39 Ensembl
GRCm38589,673,841 - 89,883,668 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl589,677,087 - 89,883,334 (-)EnsemblGRCm38mm10GRCm38
MGSCv37590,102,866 - 90,312,359 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36590,752,120 - 90,958,605 (-)NCBIMGSCv36mm8
Celera587,807,909 - 88,027,173 (-)NCBICelera
Cytogenetic Map5E1NCBI
cM Map544.32NCBI
Adamts3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81418,515,249 - 18,721,887 (+)NCBIGRCr8
mRatBN7.21418,231,128 - 18,437,771 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1418,231,165 - 18,435,556 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1418,223,355 - 18,428,156 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01419,542,250 - 19,747,040 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01418,250,519 - 18,460,965 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01419,866,278 - 20,072,896 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1419,866,408 - 20,070,994 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01419,772,990 - 19,979,182 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41419,756,887 - 19,963,451 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11419,692,864 - 19,963,098 (+)NCBI
Celera1417,597,010 - 17,800,450 (+)NCBICelera
Cytogenetic Map14p22NCBI
Adamts3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955447803,057 - 1,036,485 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955447803,287 - 1,036,435 (+)NCBIChiLan1.0ChiLan1.0
ADAMTS3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2357,511,238 - 57,801,709 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1457,705,360 - 57,998,579 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0451,648,293 - 51,941,329 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1457,965,585 - 58,258,295 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl457,966,197 - 58,259,404 (+)Ensemblpanpan1.1panPan2
ADAMTS3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11361,278,193 - 61,539,545 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1360,948,190 - 61,207,761 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01362,087,170 - 62,348,334 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1362,087,170 - 62,348,750 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11361,697,369 - 61,958,167 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01361,186,735 - 61,446,690 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01362,338,060 - 62,599,375 (-)NCBIUU_Cfam_GSD_1.0
Adamts3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440528514,228,612 - 14,449,277 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365982,680,087 - 2,901,330 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365982,680,623 - 2,901,308 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ADAMTS3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl868,675,070 - 68,948,414 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1868,675,067 - 68,948,537 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2872,588,988 - 72,885,005 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ADAMTS3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1720,793,392 - 21,068,712 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl720,793,399 - 21,048,515 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660841,744,928 - 2,020,967 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Adamts3
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248903,738,186 - 3,925,491 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248903,738,727 - 3,925,377 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ADAMTS3
102 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 4q13.3-21.21(chr4:71128874-78099088)x3 copy number gain See cases [RCV000051774] Chr4:71128874..78099088 [GRCh38]
Chr4:71994591..79020242 [GRCh37]
Chr4:72213455..79239266 [NCBI36]
Chr4:4q13.3-21.21		 pathogenic
GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3 copy number gain See cases [RCV000051772] Chr4:51831622..97505618 [GRCh38]
Chr4:52697788..98426769 [GRCh37]
Chr4:52392545..98645792 [NCBI36]
Chr4:4q12-22.3		 pathogenic
GRCh38/hg38 4q13.2-21.23(chr4:67869564-85517308)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053294]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053294]|See cases [RCV000053294] Chr4:67869564..85517308 [GRCh38]
Chr4:68735282..86438461 [GRCh37]
Chr4:68417877..86657485 [NCBI36]
Chr4:4q13.2-21.23		 pathogenic
GRCh38/hg38 4q13.3-21.22(chr4:71079179-81802208)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053295]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053295]|See cases [RCV000053295] Chr4:71079179..81802208 [GRCh38]
Chr4:71944896..82723361 [GRCh37]
Chr4:72163760..82942385 [NCBI36]
Chr4:4q13.3-21.22		 pathogenic
GRCh38/hg38 4q13.1-13.3(chr4:65454562-72313693)x1 copy number loss See cases [RCV000053293] Chr4:65454562..72313693 [GRCh38]
Chr4:66320280..73179410 [GRCh37]
Chr4:66002875..73398274 [NCBI36]
Chr4:4q13.1-13.3		 pathogenic
NM_014243.2(ADAMTS3):c.3277C>T (p.His1093Tyr) single nucleotide variant Malignant melanoma [RCV000066520] Chr4:72283477 [GRCh38]
Chr4:73149194 [GRCh37]
Chr4:73368058 [NCBI36]
Chr4:4q13.3		 not provided
NM_014243.2(ADAMTS3):c.861+2638G>T single nucleotide variant Lung cancer [RCV000095010] Chr4:72336856 [GRCh38]
Chr4:73202573 [GRCh37]
Chr4:4q13.3		 uncertain significance
NM_014243.2(ADAMTS3):c.662-36042C>A single nucleotide variant Lung cancer [RCV000095011] Chr4:72375735 [GRCh38]
Chr4:73241452 [GRCh37]
Chr4:4q13.3		 uncertain significance
NM_014243.2(ADAMTS3):c.661+15333T>C single nucleotide variant Lung cancer [RCV000095012] Chr4:72399482 [GRCh38]
Chr4:73265199 [GRCh37]
Chr4:4q13.3		 uncertain significance
NM_014243.3(ADAMTS3):c.64G>T (p.Gly22Ter) single nucleotide variant Malignant tumor of prostate [RCV000149207] Chr4:72568699 [GRCh38]
Chr4:73434416 [GRCh37]
Chr4:4q13.3		 uncertain significance
GRCh38/hg38 4q13.2-13.3(chr4:67799665-74240920)x1 copy number loss See cases [RCV000137622] Chr4:67799665..74240920 [GRCh38]
Chr4:68665383..75106637 [GRCh37]
Chr4:68347978..75325501 [NCBI36]
Chr4:4q13.2-13.3		 likely pathogenic
GRCh38/hg38 4q13.3(chr4:71432026-73648490)x1 copy number loss See cases [RCV000137732] Chr4:71432026..73648490 [GRCh38]
Chr4:72297743..74514207 [GRCh37]
Chr4:72516607..74733071 [NCBI36]
Chr4:4q13.3		 likely pathogenic
GRCh38/hg38 4q13.3-21.3(chr4:72262258-86002147)x3 copy number gain See cases [RCV000138312] Chr4:72262258..86002147 [GRCh38]
Chr4:73127975..86923300 [GRCh37]
Chr4:73346839..87142324 [NCBI36]
Chr4:4q13.3-21.3		 pathogenic
GRCh38/hg38 4q13.3(chr4:71367496-72953379)x1 copy number loss See cases [RCV000142982] Chr4:71367496..72953379 [GRCh38]
Chr4:72233213..73819096 [GRCh37]
Chr4:72452077..74037960 [NCBI36]
Chr4:4q13.3		 uncertain significance
GRCh38/hg38 4q13.2-22.3(chr4:68686088-95294456)x3 copy number gain See cases [RCV000143458] Chr4:68686088..95294456 [GRCh38]
Chr4:69551806..96215607 [GRCh37]
Chr4:69234401..96434630 [NCBI36]
Chr4:4q13.2-22.3		 pathogenic
NM_014243.3(ADAMTS3):c.2179+21G>A single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 3 [RCV001549242] Chr4:72309376 [GRCh38]
Chr4:73175093 [GRCh37]
Chr4:4q13.3		 benign
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3 copy number gain See cases [RCV000446653] Chr4:12440..190904441 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4q13.1-21.1(chr4:66017575-76772947)x1 copy number loss See cases [RCV000510445] Chr4:66017575..76772947 [GRCh37]
Chr4:4q13.1-21.1		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473) copy number gain See cases [RCV000510453] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4q13.3(chr4:72224764-73824383)x1 copy number loss See cases [RCV000510484] Chr4:72224764..73824383 [GRCh37]
Chr4:4q13.3		 uncertain significance
GRCh37/hg19 4q13.3(chr4:73184648-73812869)x3 copy number gain See cases [RCV000510833] Chr4:73184648..73812869 [GRCh37]
Chr4:4q13.3		 uncertain significance
NM_014243.3(ADAMTS3):c.3587G>C (p.Arg1196Pro) single nucleotide variant Inborn genetic diseases [RCV003241333] Chr4:72283167 [GRCh38]
Chr4:73148884 [GRCh37]
Chr4:4q13.3		 uncertain significance
NM_014243.3(ADAMTS3):c.610T>G (p.Ser204Ala) single nucleotide variant Inborn genetic diseases [RCV003279664] Chr4:72414866 [GRCh38]
Chr4:73280583 [GRCh37]
Chr4:4q13.3		 uncertain significance
NM_014243.3(ADAMTS3):c.1396C>G (p.Pro466Ala) single nucleotide variant Inborn genetic diseases [RCV003291086] Chr4:72318661 [GRCh38]
Chr4:73184378 [GRCh37]
Chr4:4q13.3		 uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3 copy number gain See cases [RCV000512241] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4q13.1-13.3(chr4:64705501-73469716)x3 copy number gain not provided [RCV000682409] Chr4:64705501..73469716 [GRCh37]
Chr4:4q13.1-13.3		 pathogenic
NM_014243.3(ADAMTS3):c.503T>C (p.Leu168Pro) single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 3 [RCV000714297] Chr4:72548479 [GRCh38]
Chr4:73414196 [GRCh37]
Chr4:4q13.3		 pathogenic
NM_014243.3(ADAMTS3):c.872T>C (p.Ile291Thr) single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 3 [RCV000714298] Chr4:72323087 [GRCh38]
Chr4:73188804 [GRCh37]
Chr4:4q13.3		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3 copy number gain not provided [RCV000743156] Chr4:49450..190963766 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3 copy number gain not provided [RCV000743147] Chr4:11525..191028879 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3 copy number gain not provided [RCV000743155] Chr4:49450..190915650 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
NM_014243.3(ADAMTS3):c.69+31del deletion Hennekam lymphangiectasia-lymphedema syndrome 3 [RCV001548848] Chr4:72568663 [GRCh38]
Chr4:73434380 [GRCh37]
Chr4:4q13.3		 benign
NM_014243.3(ADAMTS3):c.3443C>T (p.Pro1148Leu) single nucleotide variant ADAMTS3-related condition [RCV003960807]|not provided [RCV000969191] Chr4:72283311 [GRCh38]
Chr4:73149028 [GRCh37]
Chr4:4q13.3		 benign
NM_014243.3(ADAMTS3):c.1754A>G (p.Asn585Ser) single nucleotide variant not provided [RCV000950124]|not specified [RCV001701371] Chr4:72312458 [GRCh38]
Chr4:73178175 [GRCh37]
Chr4:4q13.3		 benign
NM_014243.3(ADAMTS3):c.1254G>A (p.Glu418=) single nucleotide variant ADAMTS3-related condition [RCV003972860]|not provided [RCV000966916] Chr4:72319430 [GRCh38]
Chr4:73185147 [GRCh37]
Chr4:4q13.3		 benign
NM_014243.3(ADAMTS3):c.280C>T (p.Arg94Ter) single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 3 [RCV000770924]|Inborn genetic diseases [RCV001266483] Chr4:72548702 [GRCh38]
Chr4:73414419 [GRCh37]
Chr4:4q13.3		 pathogenic
NM_014243.3(ADAMTS3):c.1183G>A (p.Val395Ile) single nucleotide variant not provided [RCV000925711] Chr4:72319883 [GRCh38]
Chr4:73185600 [GRCh37]
Chr4:4q13.3		 benign
NM_014243.3(ADAMTS3):c.2667C>A (p.Asn889Lys) single nucleotide variant Inborn genetic diseases [RCV003290016] Chr4:72295710 [GRCh38]
Chr4:73161427 [GRCh37]
Chr4:4q13.3		 uncertain significance
GRCh37/hg19 4q13.3-21.1(chr4:71561780-78304341)x1 copy number loss not provided [RCV000846231] Chr4:71561780..78304341 [GRCh37]
Chr4:4q13.3-21.1		 pathogenic
GRCh37/hg19 4q13.2-21.22(chr4:68242784-82991431)x3 copy number gain not provided [RCV000845944] Chr4:68242784..82991431 [GRCh37]
Chr4:4q13.2-21.22		 pathogenic
NM_014243.3(ADAMTS3):c.2363T>C (p.Ile788Thr) single nucleotide variant Inborn genetic diseases [RCV003250934] Chr4:72303978 [GRCh38]
Chr4:73169695 [GRCh37]
Chr4:4q13.3		 uncertain significance
NM_014243.3(ADAMTS3):c.602A>G (p.Tyr201Cys) single nucleotide variant Inborn genetic diseases [RCV003240143] Chr4:72414874 [GRCh38]
Chr4:73280591 [GRCh37]
Chr4:4q13.3		 uncertain significance
NM_014243.3(ADAMTS3):c.413G>A (p.Arg138Lys) single nucleotide variant ADAMTS3-related condition [RCV003980684]|Hennekam lymphangiectasia-lymphedema syndrome 3 [RCV001549243] Chr4:72548569 [GRCh38]
Chr4:73414286 [GRCh37]
Chr4:4q13.3		 benign
NM_014243.3(ADAMTS3):c.3220T>C (p.Ser1074Pro) single nucleotide variant not provided [RCV000888686] Chr4:72283534 [GRCh38]
Chr4:73149251 [GRCh37]
Chr4:4q13.3		 benign
NM_014243.3(ADAMTS3):c.661+7G>A single nucleotide variant ADAMTS3-related condition [RCV003960713]|Hennekam lymphangiectasia-lymphedema syndrome 3 [RCV002505447]|not provided [RCV000961536] Chr4:72414808 [GRCh38]
Chr4:73280525 [GRCh37]
Chr4:4q13.3		 benign|likely benign
GRCh37/hg19 4q13.3-21.23(chr4:72680879-86426232)x1 copy number loss not provided [RCV001005556] Chr4:72680879..86426232 [GRCh37]
Chr4:4q13.3-21.23		 pathogenic
NM_014243.3(ADAMTS3):c.2825A>G (p.Asn942Ser) single nucleotide variant ADAMTS3-related condition [RCV003930778]|not provided [RCV000890508]|not specified [RCV001700498] Chr4:72290961 [GRCh38]
Chr4:73156678 [GRCh37]
Chr4:4q13.3		 benign|likely benign
NM_014243.3(ADAMTS3):c.1746-5T>G single nucleotide variant not provided [RCV000890963] Chr4:72312471 [GRCh38]
Chr4:73178188 [GRCh37]
Chr4:4q13.3		 benign|likely benign
NM_014243.3(ADAMTS3):c.3183C>T (p.Tyr1061=) single nucleotide variant ADAMTS3-related condition [RCV003923170]|not provided [RCV000911861] Chr4:72283571 [GRCh38]
Chr4:73149288 [GRCh37]
Chr4:4q13.3		 benign
GRCh37/hg19 4q13.3(chr4:73184648-73813059)x3 copy number gain not provided [RCV001005558] Chr4:73184648..73813059 [GRCh37]
Chr4:4q13.3		 uncertain significance
GRCh37/hg19 4q13.2-21.21(chr4:68950363-79738598)x1 copy number loss not provided [RCV001005553] Chr4:68950363..79738598 [GRCh37]
Chr4:4q13.2-21.21		 pathogenic
GRCh37/hg19 4q13.3(chr4:72834889-73561412)x3 copy number gain not provided [RCV001005557] Chr4:72834889..73561412 [GRCh37]
Chr4:4q13.3		 uncertain significance
GRCh37/hg19 4q13.3-21.3(chr4:71412409-87920784)x1 copy number loss See cases [RCV001263040] Chr4:71412409..87920784 [GRCh37]
Chr4:4q13.3-21.3		 pathogenic
GRCh37/hg19 4q13.3(chr4:73222936-73389169)x1 copy number loss not provided [RCV001259269] Chr4:73222936..73389169 [GRCh37]
Chr4:4q13.3		 likely benign
NM_014243.3(ADAMTS3):c.2617C>T (p.Arg873Cys) single nucleotide variant not provided [RCV001356236] Chr4:72295760 [GRCh38]
Chr4:73161477 [GRCh37]
Chr4:4q13.3		 uncertain significance
GRCh38/hg38 4q12-21.1(chr4:51891814-76009719)x1 copy number loss Piebaldism [RCV001420508] Chr4:51891814..76009719 [GRCh38]
Chr4:4q12-21.1		 pathogenic
NC_000004.12:g.67833055_82716065del deletion See cases [RCV003313802] Chr4:67833055..82716065 [GRCh38]
Chr4:4q13.2-21.22		 pathogenic
GRCh37/hg19 4q13.1-13.3(chr4:61867555-74711517) copy number loss not specified [RCV002053422] Chr4:61867555..74711517 [GRCh37]
Chr4:4q13.1-13.3		 pathogenic
GRCh37/hg19 4q13.3-21.21(chr4:73055313-80083154) copy number loss not specified [RCV002053427] Chr4:73055313..80083154 [GRCh37]
Chr4:4q13.3-21.21		 pathogenic
GRCh37/hg19 4q13.3(chr4:72998352-73320894)x3 copy number gain not provided [RCV001827806] Chr4:72998352..73320894 [GRCh37]
Chr4:4q13.3		 uncertain significance
GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3 copy number gain not provided [RCV001827738] Chr4:52866944..143582507 [GRCh37]
Chr4:4q12-31.21		 pathogenic
NM_014243.3(ADAMTS3):c.1906T>C (p.Tyr636His) single nucleotide variant Inborn genetic diseases [RCV003277189] Chr4:72312306 [GRCh38]
Chr4:73178023 [GRCh37]
Chr4:4q13.3		 uncertain significance
NM_014243.3(ADAMTS3):c.1347T>C (p.Tyr449=) single nucleotide variant ADAMTS3-related condition [RCV003960991]|not provided [RCV002293106] Chr4:72319337 [GRCh38]
Chr4:73185054 [GRCh37]
Chr4:4q13.3		 likely benign
NM_014243.3(ADAMTS3):c.1111C>T (p.Pro371Ser) single nucleotide variant Inborn genetic diseases [RCV002901533] Chr4:72319955 [GRCh38]
Chr4:73185672 [GRCh37]
Chr4:4q13.3		 uncertain significance
NM_014243.3(ADAMTS3):c.1884T>A (p.Asn628Lys) single nucleotide variant Inborn genetic diseases [RCV002779159] Chr4:72312328 [GRCh38]
Chr4:73178045 [GRCh37]
Chr4:4q13.3		 uncertain significance
NM_014243.3(ADAMTS3):c.3259A>G (p.Thr1087Ala) single nucleotide variant Inborn genetic diseases [RCV002973486] Chr4:72283495 [GRCh38]
Chr4:73149212 [GRCh37]
Chr4:4q13.3		 uncertain significance
NM_014243.3(ADAMTS3):c.775G>A (p.Glu259Lys) single nucleotide variant Inborn genetic diseases [RCV002992168] Chr4:72339580 [GRCh38]
Chr4:73205297 [GRCh37]
Chr4:4q13.3		 uncertain significance
NM_014243.3(ADAMTS3):c.2780A>G (p.Gln927Arg) single nucleotide variant Inborn genetic diseases [RCV002945699] Chr4:72291006 [GRCh38]
Chr4:73156723 [GRCh37]
Chr4:4q13.3		 uncertain significance
NM_014243.3(ADAMTS3):c.163C>T (p.Arg55Cys) single nucleotide variant Inborn genetic diseases [RCV002753041] Chr4:72548819 [GRCh38]
Chr4:73414536 [GRCh37]
Chr4:4q13.3		 uncertain significance
NM_014243.3(ADAMTS3):c.1345T>G (p.Tyr449Asp) single nucleotide variant Inborn genetic diseases [RCV002688837] Chr4:72319339 [GRCh38]
Chr4:73185056 [GRCh37]
Chr4:4q13.3		 uncertain significance
NM_014243.3(ADAMTS3):c.74G>T (p.Gly25Val) single nucleotide variant Inborn genetic diseases [RCV002733873] Chr4:72567397 [GRCh38]
Chr4:73433114 [GRCh37]
Chr4:4q13.3		 uncertain significance
NM_014243.3(ADAMTS3):c.79G>A (p.Glu27Lys) single nucleotide variant Inborn genetic diseases [RCV002901643] Chr4:72567392 [GRCh38]
Chr4:73433109 [GRCh37]
Chr4:4q13.3		 uncertain significance
NM_014243.3(ADAMTS3):c.1876T>A (p.Tyr626Asn) single nucleotide variant Inborn genetic diseases [RCV002778880] Chr4:72312336 [GRCh38]
Chr4:73178053 [GRCh37]
Chr4:4q13.3		 uncertain significance
NM_014243.3(ADAMTS3):c.3289C>T (p.Pro1097Ser) single nucleotide variant Inborn genetic diseases [RCV002976984]|not provided [RCV003457202] Chr4:72283465 [GRCh38]
Chr4:73149182 [GRCh37]
Chr4:4q13.3		 likely benign|uncertain significance
NM_014243.3(ADAMTS3):c.1528C>G (p.Pro510Ala) single nucleotide variant Inborn genetic diseases [RCV003000959] Chr4:72315929 [GRCh38]
Chr4:73181646 [GRCh37]
Chr4:4q13.3		 uncertain significance
NM_014243.3(ADAMTS3):c.531A>C (p.Glu177Asp) single nucleotide variant Inborn genetic diseases [RCV002782304] Chr4:72414945 [GRCh38]
Chr4:73280662 [GRCh37]
Chr4:4q13.3		 likely benign
NM_014243.3(ADAMTS3):c.2219A>T (p.His740Leu) single nucleotide variant Inborn genetic diseases [RCV002799210] Chr4:72306028 [GRCh38]
Chr4:73171745 [GRCh37]
Chr4:4q13.3		 uncertain significance
NM_014243.3(ADAMTS3):c.752C>A (p.Ala251Glu) single nucleotide variant Inborn genetic diseases [RCV002845490] Chr4:72339603 [GRCh38]
Chr4:73205320 [GRCh37]
Chr4:4q13.3		 uncertain significance
NM_014243.3(ADAMTS3):c.2388C>A (p.His796Gln) single nucleotide variant Inborn genetic diseases [RCV002713571] Chr4:72303953 [GRCh38]
Chr4:73169670 [GRCh37]
Chr4:4q13.3		 uncertain significance
NM_014243.3(ADAMTS3):c.2809C>G (p.Leu937Val) single nucleotide variant Inborn genetic diseases [RCV002916311] Chr4:72290977 [GRCh38]
Chr4:73156694 [GRCh37]
Chr4:4q13.3		 uncertain significance
NM_014243.3(ADAMTS3):c.1246G>T (p.Gly416Cys) single nucleotide variant Inborn genetic diseases [RCV002850103] Chr4:72319438 [GRCh38]
Chr4:73185155 [GRCh37]
Chr4:4q13.3		 uncertain significance
NM_014243.3(ADAMTS3):c.353G>C (p.Gly118Ala) single nucleotide variant Inborn genetic diseases [RCV002763531] Chr4:72548629 [GRCh38]
Chr4:73414346 [GRCh37]
Chr4:4q13.3		 uncertain significance
NM_014243.3(ADAMTS3):c.761A>G (p.Asn254Ser) single nucleotide variant Inborn genetic diseases [RCV002802257] Chr4:72339594 [GRCh38]
Chr4:73205311 [GRCh37]
Chr4:4q13.3		 uncertain significance
NM_014243.3(ADAMTS3):c.2669A>G (p.Lys890Arg) single nucleotide variant Inborn genetic diseases [RCV002789139] Chr4:72295708 [GRCh38]
Chr4:73161425 [GRCh37]
Chr4:4q13.3		 uncertain significance
NM_014243.3(ADAMTS3):c.2647C>T (p.Arg883Cys) single nucleotide variant Inborn genetic diseases [RCV002892279] Chr4:72295730 [GRCh38]
Chr4:73161447 [GRCh37]
Chr4:4q13.3		 uncertain significance
NM_014243.3(ADAMTS3):c.2417T>C (p.Ile806Thr) single nucleotide variant Inborn genetic diseases [RCV002955721] Chr4:72303924 [GRCh38]
Chr4:73169641 [GRCh37]
Chr4:4q13.3		 uncertain significance
NM_014243.3(ADAMTS3):c.293A>G (p.Asn98Ser) single nucleotide variant Inborn genetic diseases [RCV002931717] Chr4:72548689 [GRCh38]
Chr4:73414406 [GRCh37]
Chr4:4q13.3		 uncertain significance
NM_014243.3(ADAMTS3):c.679C>T (p.Leu227Phe) single nucleotide variant Inborn genetic diseases [RCV002748398] Chr4:72339676 [GRCh38]
Chr4:73205393 [GRCh37]
Chr4:4q13.3		 uncertain significance
NM_014243.3(ADAMTS3):c.752C>T (p.Ala251Val) single nucleotide variant Inborn genetic diseases [RCV002878955] Chr4:72339603 [GRCh38]
Chr4:73205320 [GRCh37]
Chr4:4q13.3		 uncertain significance
NM_014243.3(ADAMTS3):c.1726C>T (p.Arg576Cys) single nucleotide variant Inborn genetic diseases [RCV002674920] Chr4:72313696 [GRCh38]
Chr4:73179413 [GRCh37]
Chr4:4q13.3		 uncertain significance
NM_014243.3(ADAMTS3):c.457G>A (p.Val153Met) single nucleotide variant Inborn genetic diseases [RCV002723624] Chr4:72548525 [GRCh38]
Chr4:73414242 [GRCh37]
Chr4:4q13.3		 likely benign
NM_014243.3(ADAMTS3):c.2948G>A (p.Gly983Asp) single nucleotide variant Inborn genetic diseases [RCV002722287] Chr4:72288852 [GRCh38]
Chr4:73154569 [GRCh37]
Chr4:4q13.3		 uncertain significance
NM_014243.3(ADAMTS3):c.3469C>T (p.His1157Tyr) single nucleotide variant Inborn genetic diseases [RCV002723299] Chr4:72283285 [GRCh38]
Chr4:73149002 [GRCh37]
Chr4:4q13.3		 uncertain significance
NM_014243.3(ADAMTS3):c.1304G>A (p.Arg435His) single nucleotide variant Inborn genetic diseases [RCV003281164] Chr4:72319380 [GRCh38]
Chr4:73185097 [GRCh37]
Chr4:4q13.3		 uncertain significance
NM_014243.3(ADAMTS3):c.1247G>C (p.Gly416Ala) single nucleotide variant Inborn genetic diseases [RCV003205472] Chr4:72319437 [GRCh38]
Chr4:73185154 [GRCh37]
Chr4:4q13.3		 uncertain significance
NM_014243.3(ADAMTS3):c.1848G>T (p.Gln616His) single nucleotide variant Inborn genetic diseases [RCV003184255] Chr4:72312364 [GRCh38]
Chr4:73178081 [GRCh37]
Chr4:4q13.3		 uncertain significance
NM_014243.3(ADAMTS3):c.1770T>G (p.Cys590Trp) single nucleotide variant Inborn genetic diseases [RCV003216909] Chr4:72312442 [GRCh38]
Chr4:73178159 [GRCh37]
Chr4:4q13.3		 uncertain significance
NM_014243.3(ADAMTS3):c.3520G>A (p.Asp1174Asn) single nucleotide variant Inborn genetic diseases [RCV003210956] Chr4:72283234 [GRCh38]
Chr4:73148951 [GRCh37]
Chr4:4q13.3		 uncertain significance
NM_014243.3(ADAMTS3):c.1090G>A (p.Ala364Thr) single nucleotide variant Inborn genetic diseases [RCV003200827] Chr4:72320726 [GRCh38]
Chr4:73186443 [GRCh37]
Chr4:4q13.3		 uncertain significance
NM_014243.3(ADAMTS3):c.2695T>G (p.Cys899Gly) single nucleotide variant Inborn genetic diseases [RCV003213068] Chr4:72295682 [GRCh38]
Chr4:73161399 [GRCh37]
Chr4:4q13.3		 uncertain significance
NM_014243.3(ADAMTS3):c.3331G>A (p.Gly1111Ser) single nucleotide variant Inborn genetic diseases [RCV003308842] Chr4:72283423 [GRCh38]
Chr4:73149140 [GRCh37]
Chr4:4q13.3		 uncertain significance
NM_014243.3(ADAMTS3):c.2966G>A (p.Arg989Lys) single nucleotide variant Inborn genetic diseases [RCV003365171] Chr4:72288834 [GRCh38]
Chr4:73154551 [GRCh37]
Chr4:4q13.3		 uncertain significance
GRCh37/hg19 4q13.2-13.3(chr4:69146217-75500577)x1 copy number loss not provided [RCV003485422] Chr4:69146217..75500577 [GRCh37]
Chr4:4q13.2-13.3		 pathogenic
NM_014243.3(ADAMTS3):c.1599+7A>G single nucleotide variant not provided [RCV003457418] Chr4:72315851 [GRCh38]
Chr4:73181568 [GRCh37]
Chr4:4q13.3		 uncertain significance
NM_014243.3(ADAMTS3):c.1017G>A (p.Gln339=) single nucleotide variant ADAMTS3-related condition [RCV003966406]|not provided [RCV003439340] Chr4:72320799 [GRCh38]
Chr4:73186516 [GRCh37]
Chr4:4q13.3		 likely benign
NM_014243.3(ADAMTS3):c.862-5G>T single nucleotide variant ADAMTS3-related condition [RCV003946600]|not provided [RCV003439343] Chr4:72323102 [GRCh38]
Chr4:73188819 [GRCh37]
Chr4:4q13.3		 benign
NM_014243.3(ADAMTS3):c.309T>C (p.Ala103=) single nucleotide variant not provided [RCV003439344] Chr4:72548673 [GRCh38]
Chr4:73414390 [GRCh37]
Chr4:4q13.3		 likely benign
NM_014243.3(ADAMTS3):c.2322G>T (p.Ser774=) single nucleotide variant not provided [RCV003435038] Chr4:72304019 [GRCh38]
Chr4:73169736 [GRCh37]
Chr4:4q13.3		 likely benign
NM_014243.3(ADAMTS3):c.2763T>C (p.Cys921=) single nucleotide variant not provided [RCV003435037] Chr4:72291023 [GRCh38]
Chr4:73156740 [GRCh37]
Chr4:4q13.3		 likely benign
NM_014243.3(ADAMTS3):c.2085T>C (p.Ser695=) single nucleotide variant not provided [RCV003439338] Chr4:72309491 [GRCh38]
Chr4:73175208 [GRCh37]
Chr4:4q13.3		 likely benign
NM_014243.3(ADAMTS3):c.862-4C>T single nucleotide variant ADAMTS3-related condition [RCV003946599]|not provided [RCV003439342] Chr4:72323101 [GRCh38]
Chr4:73188818 [GRCh37]
Chr4:4q13.3		 benign
NM_014243.3(ADAMTS3):c.1008G>A (p.Ala336=) single nucleotide variant not provided [RCV003439341] Chr4:72320808 [GRCh38]
Chr4:73186525 [GRCh37]
Chr4:4q13.3		 likely benign
NM_014243.3(ADAMTS3):c.3365G>A (p.Ser1122Asn) single nucleotide variant ADAMTS3-related condition [RCV003954188]|not provided [RCV003439337] Chr4:72283389 [GRCh38]
Chr4:73149106 [GRCh37]
Chr4:4q13.3		 likely benign
NM_014243.3(ADAMTS3):c.1694G>A (p.Arg565Gln) single nucleotide variant ADAMTS3-related condition [RCV003954189]|not provided [RCV003435039] Chr4:72313728 [GRCh38]
Chr4:73179445 [GRCh37]
Chr4:4q13.3		 likely benign
NM_014243.3(ADAMTS3):c.1071C>G (p.Thr357=) single nucleotide variant not provided [RCV003439339] Chr4:72320745 [GRCh38]
Chr4:73186462 [GRCh37]
Chr4:4q13.3		 likely benign
NM_014243.3(ADAMTS3):c.690A>C (p.Leu230=) single nucleotide variant ADAMTS3-related condition [RCV003911674] Chr4:72339665 [GRCh38]
Chr4:73205382 [GRCh37]
Chr4:4q13.3		 likely benign
NM_014243.3(ADAMTS3):c.1677A>G (p.Lys559=) single nucleotide variant ADAMTS3-related condition [RCV003962246] Chr4:72313745 [GRCh38]
Chr4:73179462 [GRCh37]
Chr4:4q13.3		 likely benign
NM_014243.3(ADAMTS3):c.819C>A (p.Gly273=) single nucleotide variant ADAMTS3-related condition [RCV003979014] Chr4:72339536 [GRCh38]
Chr4:73205253 [GRCh37]
Chr4:4q13.3		 benign
NM_014243.3(ADAMTS3):c.1242G>A (p.Arg414=) single nucleotide variant ADAMTS3-related condition [RCV003937146] Chr4:72319442 [GRCh38]
Chr4:73185159 [GRCh37]
Chr4:4q13.3		 likely benign
NM_014243.3(ADAMTS3):c.2322G>A (p.Ser774=) single nucleotide variant ADAMTS3-related condition [RCV003962144] Chr4:72304019 [GRCh38]
Chr4:73169736 [GRCh37]
Chr4:4q13.3		 likely benign
NM_014243.3(ADAMTS3):c.1537C>A (p.Pro513Thr) single nucleotide variant ADAMTS3-related condition [RCV003921853] Chr4:72315920 [GRCh38]
Chr4:73181637 [GRCh37]
Chr4:4q13.3		 benign
NM_014243.3(ADAMTS3):c.399G>A (p.Thr133=) single nucleotide variant ADAMTS3-related condition [RCV003946871] Chr4:72548583 [GRCh38]
Chr4:73414300 [GRCh37]
Chr4:4q13.3		 likely benign
NM_014243.3(ADAMTS3):c.1977C>T (p.Tyr659=) single nucleotide variant ADAMTS3-related condition [RCV003981508] Chr4:72311126 [GRCh38]
Chr4:73176843 [GRCh37]
Chr4:4q13.3		 likely benign
NM_014243.3(ADAMTS3):c.655T>C (p.Tyr219His) single nucleotide variant ADAMTS3-related condition [RCV003927076] Chr4:72414821 [GRCh38]
Chr4:73280538 [GRCh37]
Chr4:4q13.3		 benign
NM_014243.3(ADAMTS3):c.331C>T (p.His111Tyr) single nucleotide variant ADAMTS3-related condition [RCV003931611] Chr4:72548651 [GRCh38]
Chr4:73414368 [GRCh37]
Chr4:4q13.3		 benign
NM_014243.3(ADAMTS3):c.2391C>T (p.Thr797=) single nucleotide variant ADAMTS3-related condition [RCV003899465] Chr4:72303950 [GRCh38]
Chr4:73169667 [GRCh37]
Chr4:4q13.3		 likely benign
GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3 copy number gain not provided [RCV003885507] Chr4:45455621..191003541 [GRCh37]
Chr4:4p12-q35.2		 pathogenic
NM_014243.3(ADAMTS3):c.1379C>T (p.Pro460Leu) single nucleotide variant ADAMTS3-related condition [RCV003896502] Chr4:72318678 [GRCh38]
Chr4:73184395 [GRCh37]
Chr4:4q13.3		 uncertain significance
NM_014243.3(ADAMTS3):c.70-5del deletion ADAMTS3-related condition [RCV003979802] Chr4:72567406 [GRCh38]
Chr4:73433123 [GRCh37]
Chr4:4q13.3		 benign
NM_014243.3(ADAMTS3):c.57A>G (p.Ser19=) single nucleotide variant ADAMTS3-related condition [RCV003976628] Chr4:72568706 [GRCh38]
Chr4:73434423 [GRCh37]
Chr4:4q13.3		 likely benign
NM_014243.3(ADAMTS3):c.467C>G (p.Pro156Arg) single nucleotide variant Inborn genetic diseases [RCV003357372] Chr4:72548515 [GRCh38]
Chr4:73414232 [GRCh37]
Chr4:4q13.3		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1130
Count of miRNA genes:680
Interacting mature miRNAs:804
Transcripts:ENST00000286657, ENST00000505193, ENST00000511274
Prediction methods: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
SHGC-59735  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37473,148,728 - 73,148,877UniSTSGRCh37
Build 36473,367,592 - 73,367,741RGDNCBI36
Celera470,504,701 - 70,504,850RGD
Cytogenetic Map4q13.3UniSTS
HuRef468,953,536 - 68,953,685UniSTS
GeneMap99-GB4 RH Map4423.97UniSTS
NCBI RH Map4875.8UniSTS
G33602  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37473,146,829 - 73,146,940UniSTSGRCh37
Build 36473,365,693 - 73,365,804RGDNCBI36
Celera470,502,801 - 70,502,912RGD
Cytogenetic Map4q13.3UniSTS
HuRef468,951,636 - 68,951,747UniSTS
HSC2JD032  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37473,146,693 - 73,146,894UniSTSGRCh37
Build 36473,365,557 - 73,365,758RGDNCBI36
Celera470,502,665 - 70,502,866RGD
Cytogenetic Map4q13.3UniSTS
HuRef468,951,500 - 68,951,701UniSTS
TNG Radiation Hybrid Map440484.0UniSTS
Stanford-G3 RH Map44018.0UniSTS
GeneMap99-GB4 RH Map4425.31UniSTS
Whitehead-RH Map4478.3UniSTS
NCBI RH Map4849.5UniSTS
GeneMap99-G3 RH Map44002.0UniSTS
RH120789  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37473,154,209 - 73,154,482UniSTSGRCh37
Build 36473,373,073 - 73,373,346RGDNCBI36
Celera470,510,182 - 70,510,455RGD
Cytogenetic Map4q13.3UniSTS
HuRef468,959,016 - 68,959,289UniSTS
TNG Radiation Hybrid Map440501.0UniSTS
RH120844  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37473,302,801 - 73,303,072UniSTSGRCh37
Build 36473,521,665 - 73,521,936RGDNCBI36
Celera470,658,626 - 70,658,897RGD
Cytogenetic Map4q13.3UniSTS
HuRef469,108,785 - 69,109,056UniSTS
TNG Radiation Hybrid Map440703.0UniSTS
D4S1389  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37473,177,951 - 73,178,154UniSTSGRCh37
Build 36473,396,815 - 73,397,018RGDNCBI36
Celera470,533,925 - 70,534,128RGD
Cytogenetic Map4q13.3UniSTS
HuRef468,982,755 - 68,982,958UniSTS
ADAMTS3_678  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37473,146,526 - 73,147,397UniSTSGRCh37
Build 36473,365,390 - 73,366,261RGDNCBI36
Celera470,502,498 - 70,503,369RGD
HuRef468,951,333 - 68,952,204UniSTS
SHGC-67364  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37473,146,968 - 73,147,095UniSTSGRCh37
Build 36473,365,832 - 73,365,959RGDNCBI36
Celera470,502,940 - 70,503,067RGD
Cytogenetic Map4q13.3UniSTS
HuRef468,951,775 - 68,951,902UniSTS
GeneMap99-GB4 RH Map4444.58UniSTS
NCBI RH Map4850.7UniSTS


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 8 5 4 15 4 15 5 29 35 63 20 24 1
Low 1482 1815 1160 202 484 92 2997 954 2042 268 1188 1466 118 1 1155 1829 6 1
Below cutoff 852 1069 518 375 866 325 1338 1213 1535 103 177 85 55 25 957

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_046955 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_014243 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011532421 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011532422 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054351286 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054351287 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB002364 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC093790 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC095056 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC104814 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF247668 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295131 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC016451 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC019707 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC130287 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC132735 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471057 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KX954214 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000286657   ⟹   ENSP00000286657
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl472,280,969 - 72,569,221 (-)Ensembl
RefSeq Acc Id: ENST00000505193
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl472,441,676 - 72,568,045 (-)Ensembl
RefSeq Acc Id: ENST00000511274
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl472,298,225 - 72,312,255 (-)Ensembl
RefSeq Acc Id: ENST00000622135   ⟹   ENSP00000480055
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl472,282,041 - 72,568,796 (-)Ensembl
RefSeq Acc Id: NM_014243   ⟹   NP_055058
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38472,280,969 - 72,569,221 (-)NCBI
GRCh37473,146,686 - 73,434,516 (-)ENTREZGENE
Build 36473,365,551 - 73,653,380 (-)NCBI Archive
Celera470,502,659 - 70,790,668 (-)RGD
HuRef468,951,493 - 69,241,512 (-)ENTREZGENE
CHM1_1473,182,184 - 73,470,272 (-)NCBI
T2T-CHM13v2.0475,623,227 - 75,912,559 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011532421   ⟹   XP_011530723
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38472,280,969 - 72,568,005 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011532422   ⟹   XP_011530724
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38472,280,969 - 72,568,653 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054351286   ⟹   XP_054207261
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0475,623,227 - 75,911,344 (-)NCBI
RefSeq Acc Id: XM_054351287   ⟹   XP_054207262
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0475,623,227 - 75,911,992 (-)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_055058   ⟸   NM_014243
- Peptide Label: preproprotein
- UniProtKB: A1L3U9 (UniProtKB/Swiss-Prot),   Q9BXZ8 (UniProtKB/Swiss-Prot),   O15072 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011530724   ⟸   XM_011532422
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011530723   ⟸   XM_011532421
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000480055   ⟸   ENST00000622135
RefSeq Acc Id: ENSP00000286657   ⟸   ENST00000286657
RefSeq Acc Id: XP_054207262   ⟸   XM_054351287
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054207261   ⟸   XM_054351286
- Peptide Label: isoform X1
Protein Domains
Disintegrin   Peptidase M12B   Peptidase M12B propeptide   PLAC   TSP type-1

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O15072-F1-model_v2 AlphaFold O15072 1-1205 view protein structure

Promoters
RGD ID:6867684
Promoter ID:EPDNEW_H7007
Type:multiple initiation site
Name:ADAMTS3_1
Description:ADAM metallopeptidase with thrombospondin type 1 motif 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H7008  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38472,569,358 - 72,569,418EPDNEW
RGD ID:6867686
Promoter ID:EPDNEW_H7008
Type:multiple initiation site
Name:ADAMTS3_2
Description:ADAM metallopeptidase with thrombospondin type 1 motif 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H7007  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38472,569,908 - 72,569,968EPDNEW
RGD ID:6802028
Promoter ID:HG_KWN:48449
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:OTTHUMT00000252164
Position:
Human AssemblyChrPosition (strand)Source
Build 36473,652,956 - 73,653,957 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:219 AgrOrtholog
COSMIC ADAMTS3 COSMIC
Ensembl Genes ENSG00000156140 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000286657 ENTREZGENE
  ENST00000286657.10 UniProtKB/Swiss-Prot
Gene3D-CATH 2.20.100.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.60.120.830 UniProtKB/Swiss-Prot
  3.40.1620.60 UniProtKB/Swiss-Prot
  3.40.390.10 UniProtKB/Swiss-Prot
GTEx ENSG00000156140 GTEx
HGNC ID HGNC:219 ENTREZGENE
Human Proteome Map ADAMTS3 Human Proteome Map
InterPro ADAM_CR_2 UniProtKB/Swiss-Prot
  ADAM_spacer1 UniProtKB/Swiss-Prot
  ADAMTS/ADAMTS-like UniProtKB/Swiss-Prot
  ADAMTS_CR_3 UniProtKB/Swiss-Prot
  MetalloPept_cat_dom_sf UniProtKB/Swiss-Prot
  Peptidase_M12B UniProtKB/Swiss-Prot
  Peptidase_M12B_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PLAC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TSP1_rpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TSP1_rpt_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:9508 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 9508 ENTREZGENE
OMIM 605011 OMIM
PANTHER A DISINTEGRIN AND METALLOPROTEINASE WITH THROMBOSPONDIN MOTIFS 3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ADAMTS A DISINTEGRIN AND METALLOPROTEASE WITH THROMBOSPONDIN MOTIFS PROTEASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam ADAM_CR_2 UniProtKB/Swiss-Prot
  ADAM_CR_3 UniProtKB/Swiss-Prot
  ADAM_spacer1 UniProtKB/Swiss-Prot
  Pep_M12B_propep UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Reprolysin UniProtKB/Swiss-Prot
  TSP1_ADAMTS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TSP_1 UniProtKB/Swiss-Prot
PharmGKB PA24547 PharmGKB
PRINTS ADAMTSFAMILY UniProtKB/Swiss-Prot
PROSITE ADAM_MEPRO UniProtKB/Swiss-Prot
  PLAC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TSP1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART TSP1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP Metalloproteases ('zincins'), catalytic domain UniProtKB/Swiss-Prot
  SSF82895 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A1L3U9 ENTREZGENE
  ATS3_HUMAN UniProtKB/Swiss-Prot
  B7Z2U9_HUMAN UniProtKB/TrEMBL
  O15072 ENTREZGENE
  Q96AY5_HUMAN UniProtKB/TrEMBL
  Q9BXZ8 ENTREZGENE
UniProt Secondary A1L3U9 UniProtKB/Swiss-Prot
  Q9BXZ8 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-17 ADAMTS3  ADAM metallopeptidase with thrombospondin type 1 motif 3  ADAMTS3  ADAM metallopeptidase with thrombospondin type 1 motif, 3  Symbol and/or name change 5135510 APPROVED