SEC63 (SEC63 homolog, protein translocation regulator) - Rat Genome Database

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Gene: SEC63 (SEC63 homolog, protein translocation regulator) Homo sapiens
Analyze
Symbol: SEC63
Name: SEC63 homolog, protein translocation regulator
RGD ID: 1312738
HGNC Page HGNC
Description: Enables RNA binding activity. Involved in posttranslational protein targeting to membrane, translocation. Acts upstream of or within SRP-dependent cotranslational protein targeting to membrane and posttranslational protein targeting to endoplasmic reticulum membrane. Located in endoplasmic reticulum and membrane. Implicated in polycystic liver disease.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: DNAJC23; ERdj2; PCLD2; PRO2507; SEC63 homolog; SEC63 protein translocation regulator; SEC63-like; SEC63L; translocation protein SEC63 homolog
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: SEC63P1   SEC63P2  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl6107,867,756 - 107,958,208 (-)EnsemblGRCh38hg38GRCh38
GRCh386107,867,756 - 107,958,208 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh376108,188,960 - 108,279,412 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 366108,298,215 - 108,386,086 (-)NCBINCBI36hg18NCBI36
Build 346108,298,214 - 108,386,086NCBI
Celera6108,935,760 - 109,025,964 (-)NCBI
Cytogenetic Map6q21NCBI
HuRef6105,758,265 - 105,848,248 (-)NCBIHuRef
CHM1_16108,451,504 - 108,542,131 (-)NCBICHM1_1
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

Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:10219736   PMID:10543453   PMID:10799540   PMID:11023840   PMID:12477932   PMID:14702039   PMID:15489334   PMID:16303743   PMID:16341674   PMID:16344560   PMID:16835903   PMID:17353931  
PMID:17456004   PMID:18224332   PMID:20095989   PMID:20408955   PMID:21251912   PMID:21873635   PMID:21903422   PMID:22375059   PMID:22658674   PMID:22810586   PMID:23166619   PMID:23209713  
PMID:23284306   PMID:23287549   PMID:25921289   PMID:26085089   PMID:26186194   PMID:26344197   PMID:26496610   PMID:26511642   PMID:26638075   PMID:26871637   PMID:27342126   PMID:27432908  
PMID:28443643   PMID:28504640   PMID:28514442   PMID:28611094   PMID:28675297   PMID:28695742   PMID:28813667   PMID:28973524   PMID:29117863   PMID:29180619   PMID:29357390   PMID:29395067  
PMID:29507755   PMID:29509190   PMID:29564676   PMID:29568061   PMID:29719251   PMID:30463901   PMID:30833792   PMID:30948266   PMID:31056421   PMID:31073040   PMID:31091453   PMID:31177093  
PMID:31527615   PMID:32133789   PMID:32572027   PMID:32694731   PMID:32788342   PMID:32807901   PMID:32877691   PMID:33957083   PMID:34079125  


Genomics

Comparative Map Data
SEC63
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl6107,867,756 - 107,958,208 (-)EnsemblGRCh38hg38GRCh38
GRCh386107,867,756 - 107,958,208 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh376108,188,960 - 108,279,412 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 366108,298,215 - 108,386,086 (-)NCBINCBI36hg18NCBI36
Build 346108,298,214 - 108,386,086NCBI
Celera6108,935,760 - 109,025,964 (-)NCBI
Cytogenetic Map6q21NCBI
HuRef6105,758,265 - 105,848,248 (-)NCBIHuRef
CHM1_16108,451,504 - 108,542,131 (-)NCBICHM1_1
Sec63
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391042,637,492 - 42,708,510 (+)NCBIGRCm39mm39
GRCm39 Ensembl1042,637,492 - 42,708,510 (+)Ensembl
GRCm381042,761,496 - 42,832,514 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1042,761,496 - 42,832,514 (+)EnsemblGRCm38mm10GRCm38
MGSCv371042,481,302 - 42,552,320 (+)NCBIGRCm37mm9NCBIm37
MGSCv361042,450,141 - 42,517,702 (+)NCBImm8
Celera1043,628,635 - 43,699,289 (+)NCBICelera
Cytogenetic Map10B2NCBI
cM Map1022.89NCBI
Sec63
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.22046,245,101 - 46,314,055 (+)NCBImRatBN7.2
Rnor_6.0 Ensembl2047,494,270 - 47,563,222 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.02047,494,270 - 47,563,222 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.02049,156,193 - 49,225,366 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42046,669,125 - 46,738,077 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.12046,693,553 - 46,762,289 (+)NCBI
Celera2053,663,315 - 53,732,035 (-)NCBICelera
Cytogenetic Map20q13NCBI
Sec63
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541133,063,989 - 33,126,105 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495541133,063,056 - 33,126,325 (-)NCBIChiLan1.0ChiLan1.0
SEC63
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.16109,536,790 - 109,620,748 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl6109,538,184 - 109,595,518 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v06105,673,265 - 105,757,422 (-)NCBIMhudiblu_PPA_v0panPan3
SEC63
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11264,983,442 - 65,028,573 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1264,770,434 - 64,844,883 (-)NCBI
ROS_Cfam_1.01265,829,612 - 65,904,228 (-)NCBI
UMICH_Zoey_3.11265,185,870 - 65,260,323 (-)NCBI
UNSW_CanFamBas_1.01265,031,615 - 65,106,070 (-)NCBI
UU_Cfam_GSD_1.01265,305,260 - 65,379,711 (-)NCBI
Sec63
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494699,904,722 - 99,947,041 (-)NCBI
SpeTri2.0NW_0049365644,182,330 - 4,221,927 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SEC63
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl174,000,684 - 74,078,582 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1174,003,428 - 74,078,605 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2183,274,127 - 83,349,307 (-)NCBISscrofa10.2Sscrofa10.2susScr3
SEC63
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11365,902,796 - 65,993,092 (+)NCBI
ChlSab1.1 Ensembl1365,902,956 - 65,996,514 (+)Ensembl
Vero_WHO_p1.0NW_02366604038,236,474 - 38,324,301 (+)NCBI
Sec63
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462478014,322,651 - 14,405,674 (+)NCBI

Position Markers
RH46852  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,192,017 - 108,192,170UniSTSGRCh37
Build 366108,298,710 - 108,298,863RGDNCBI36
Celera6108,938,812 - 108,938,965RGD
Cytogenetic Map6q21UniSTS
HuRef6105,761,310 - 105,761,463UniSTS
GeneMap99-GB4 RH Map6459.92UniSTS
NCBI RH Map61404.5UniSTS
SGC30691  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,191,990 - 108,192,119UniSTSGRCh37
Build 366108,298,683 - 108,298,812RGDNCBI36
Celera6108,938,785 - 108,938,914RGD
Cytogenetic Map6q21UniSTS
HuRef6105,761,283 - 105,761,412UniSTS
GeneMap99-GB4 RH Map6489.35UniSTS
Whitehead-RH Map6661.2UniSTS
RH99154  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,189,131 - 108,189,286UniSTSGRCh37
Build 366108,295,824 - 108,295,979RGDNCBI36
Celera6108,935,931 - 108,936,086RGD
Cytogenetic Map6q21UniSTS
HuRef6105,758,436 - 105,758,591UniSTS
GeneMap99-GB4 RH Map6464.69UniSTS
RH80889  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37198,011,653 - 98,011,813UniSTSGRCh37
Build 36197,784,241 - 97,784,401RGDNCBI36
Celera196,265,368 - 96,265,528RGD
Cytogenetic Map6q21UniSTS
Cytogenetic Map1p22UniSTS
HuRef196,132,656 - 96,132,816UniSTS
GeneMap99-GB4 RH Map1269.16UniSTS
ECD04673  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,271,978 - 108,272,735UniSTSGRCh37
Build 366108,378,671 - 108,379,428RGDNCBI36
Celera6109,018,459 - 109,019,216RGD
Cytogenetic Map6q21UniSTS
HuRef6105,840,841 - 105,841,598UniSTS
ECD09531  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,277,382 - 108,278,008UniSTSGRCh37
Build 366108,384,075 - 108,384,701RGDNCBI36
Celera6109,023,864 - 109,024,490RGD
Cytogenetic Map6q21UniSTS
HuRef6105,846,148 - 105,846,774UniSTS
ECD09644  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,278,691 - 108,279,314UniSTSGRCh37
Build 366108,385,384 - 108,386,007RGDNCBI36
Celera6109,025,173 - 109,025,796RGD
Cytogenetic Map6q21UniSTS
HuRef6105,847,457 - 105,848,080UniSTS
ECD09911  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,278,053 - 108,278,669UniSTSGRCh37
Build 366108,384,746 - 108,385,362RGDNCBI36
Celera6109,024,535 - 109,025,151RGD
Cytogenetic Map6q21UniSTS
HuRef6105,846,819 - 105,847,435UniSTS
ECD10157  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,268,804 - 108,269,413UniSTSGRCh37
Build 366108,375,497 - 108,376,106RGDNCBI36
Celera6109,015,285 - 109,015,894RGD
Cytogenetic Map6q21UniSTS
HuRef6105,837,667 - 105,838,276UniSTS
ECD11589  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,280,711 - 108,281,278UniSTSGRCh37
Build 366108,387,404 - 108,387,971RGDNCBI36
Celera6109,027,193 - 109,027,760RGD
Cytogenetic Map6q21UniSTS
HuRef6105,849,477 - 105,850,044UniSTS
ECD17446  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,273,246 - 108,273,644UniSTSGRCh37
Build 366108,379,939 - 108,380,337RGDNCBI36
Celera6109,019,727 - 109,020,125RGD
Cytogenetic Map6q21UniSTS
HuRef6105,842,109 - 105,842,507UniSTS
ECD17587  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,279,464 - 108,279,856UniSTSGRCh37
Build 366108,386,157 - 108,386,549RGDNCBI36
Celera6109,025,946 - 109,026,338RGD
Cytogenetic Map6q21UniSTS
HuRef6105,848,230 - 105,848,622UniSTS
ECD20289  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,266,826 - 108,267,115UniSTSGRCh37
Build 366108,373,519 - 108,373,808RGDNCBI36
Celera6109,013,307 - 109,013,596RGD
Cytogenetic Map6q21UniSTS
HuRef6105,835,689 - 105,835,978UniSTS
ECD20429  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,275,963 - 108,276,247UniSTSGRCh37
Build 366108,382,656 - 108,382,940RGDNCBI36
Celera6109,022,445 - 109,022,729RGD
Cytogenetic Map6q21UniSTS
HuRef6105,844,730 - 105,845,014UniSTS
ECD23900  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,267,777 - 108,267,947UniSTSGRCh37
Build 366108,374,470 - 108,374,640RGDNCBI36
Celera6109,014,258 - 109,014,428RGD
Cytogenetic Map6q21UniSTS
HuRef6105,836,640 - 105,836,810UniSTS
ECD24351  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,273,994 - 108,274,133UniSTSGRCh37
Build 366108,380,687 - 108,380,826RGDNCBI36
Celera6109,020,475 - 109,020,614RGD
Cytogenetic Map6q21UniSTS
HuRef6105,842,857 - 105,842,996UniSTS
REN48784  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,264,325 - 108,264,573UniSTSGRCh37
Build 366108,371,018 - 108,371,266RGDNCBI36
Celera6109,011,103 - 109,011,351RGD
Cytogenetic Map6q21UniSTS
HuRef6105,833,485 - 105,833,733UniSTS
REN48785  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,264,548 - 108,264,786UniSTSGRCh37
Build 366108,371,241 - 108,371,479RGDNCBI36
Celera6109,011,326 - 109,011,564RGD
Cytogenetic Map6q21UniSTS
HuRef6105,833,708 - 105,833,946UniSTS
REN48786  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,264,763 - 108,265,021UniSTSGRCh37
Build 366108,371,456 - 108,371,714RGDNCBI36
Celera6109,011,541 - 109,011,799RGD
Cytogenetic Map6q21UniSTS
HuRef6105,833,923 - 105,834,181UniSTS
REN48787  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,264,998 - 108,265,234UniSTSGRCh37
Build 366108,371,691 - 108,371,927RGDNCBI36
Celera6109,011,776 - 109,012,012RGD
Cytogenetic Map6q21UniSTS
HuRef6105,834,158 - 105,834,394UniSTS
REN48788  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,265,211 - 108,265,448UniSTSGRCh37
Build 366108,371,904 - 108,372,141RGDNCBI36
Celera6109,011,989 - 109,012,226RGD
Cytogenetic Map6q21UniSTS
HuRef6105,834,371 - 105,834,608UniSTS
REN48789  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,265,403 - 108,265,628UniSTSGRCh37
Build 366108,372,096 - 108,372,321RGDNCBI36
Celera6109,012,181 - 109,012,406RGD
Cytogenetic Map6q21UniSTS
HuRef6105,834,563 - 105,834,788UniSTS
REN48790  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,265,550 - 108,265,782UniSTSGRCh37
Build 366108,372,243 - 108,372,475RGDNCBI36
Celera6109,012,328 - 109,012,560RGD
Cytogenetic Map6q21UniSTS
HuRef6105,834,710 - 105,834,942UniSTS
REN48791  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,265,753 - 108,266,015UniSTSGRCh37
Build 366108,372,446 - 108,372,708RGDNCBI36
Celera6109,012,531 - 109,012,799RGD
Cytogenetic Map6q21UniSTS
HuRef6105,834,913 - 105,835,181UniSTS
REN48792  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,265,877 - 108,266,101UniSTSGRCh37
Build 366108,372,570 - 108,372,794RGDNCBI36
Celera6109,012,655 - 109,012,885RGD
Cytogenetic Map6q21UniSTS
HuRef6105,835,037 - 105,835,267UniSTS
REN48793  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,266,464 - 108,266,723UniSTSGRCh37
Build 366108,373,157 - 108,373,416RGDNCBI36
Celera6109,012,945 - 109,013,204RGD
Cytogenetic Map6q21UniSTS
HuRef6105,835,327 - 105,835,586UniSTS
REN48794  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,266,840 - 108,267,065UniSTSGRCh37
Build 366108,373,533 - 108,373,758RGDNCBI36
Celera6109,013,321 - 109,013,546RGD
Cytogenetic Map6q21UniSTS
HuRef6105,835,703 - 105,835,928UniSTS
REN48795  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,266,885 - 108,267,114UniSTSGRCh37
Build 366108,373,578 - 108,373,807RGDNCBI36
Celera6109,013,366 - 109,013,595RGD
Cytogenetic Map6q21UniSTS
HuRef6105,835,748 - 105,835,977UniSTS
REN48796  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,267,642 - 108,267,866UniSTSGRCh37
Build 366108,374,335 - 108,374,559RGDNCBI36
Celera6109,014,123 - 109,014,347RGD
Cytogenetic Map6q21UniSTS
HuRef6105,836,505 - 105,836,729UniSTS
REN48797  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,267,735 - 108,267,973UniSTSGRCh37
Build 366108,374,428 - 108,374,666RGDNCBI36
Celera6109,014,216 - 109,014,454RGD
Cytogenetic Map6q21UniSTS
HuRef6105,836,598 - 105,836,836UniSTS
REN48798  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,268,362 - 108,268,597UniSTSGRCh37
Build 366108,375,055 - 108,375,290RGDNCBI36
Celera6109,014,843 - 109,015,078RGD
Cytogenetic Map6q21UniSTS
HuRef6105,837,225 - 105,837,460UniSTS
REN48799  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,268,579 - 108,268,828UniSTSGRCh37
Build 366108,375,272 - 108,375,521RGDNCBI36
Celera6109,015,060 - 109,015,309RGD
Cytogenetic Map6q21UniSTS
HuRef6105,837,442 - 105,837,691UniSTS
REN48800  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,268,806 - 108,269,045UniSTSGRCh37
Build 366108,375,499 - 108,375,738RGDNCBI36
Celera6109,015,287 - 109,015,526RGD
Cytogenetic Map6q21UniSTS
HuRef6105,837,669 - 105,837,908UniSTS
REN48801  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,269,030 - 108,269,266UniSTSGRCh37
Build 366108,375,723 - 108,375,959RGDNCBI36
Celera6109,015,511 - 109,015,747RGD
Cytogenetic Map6q21UniSTS
HuRef6105,837,893 - 105,838,129UniSTS
REN48802  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,269,238 - 108,269,498UniSTSGRCh37
Build 366108,375,931 - 108,376,191RGDNCBI36
Celera6109,015,719 - 109,015,979RGD
Cytogenetic Map6q21UniSTS
HuRef6105,838,101 - 105,838,361UniSTS
REN48803  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,269,493 - 108,269,746UniSTSGRCh37
Build 366108,376,186 - 108,376,439RGDNCBI36
Celera6109,015,974 - 109,016,227RGD
Cytogenetic Map6q21UniSTS
HuRef6105,838,356 - 105,838,609UniSTS
REN48804  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,269,684 - 108,269,947UniSTSGRCh37
Build 366108,376,377 - 108,376,640RGDNCBI36
Celera6109,016,165 - 109,016,428RGD
Cytogenetic Map6q21UniSTS
HuRef6105,838,547 - 105,838,810UniSTS
REN48805  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,269,925 - 108,270,166UniSTSGRCh37
Build 366108,376,618 - 108,376,859RGDNCBI36
Celera6109,016,406 - 109,016,647RGD
Cytogenetic Map6q21UniSTS
HuRef6105,838,788 - 105,839,029UniSTS
REN48806  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,270,142 - 108,270,372UniSTSGRCh37
Build 366108,376,835 - 108,377,065RGDNCBI36
Celera6109,016,623 - 109,016,853RGD
Cytogenetic Map6q21UniSTS
HuRef6105,839,005 - 105,839,235UniSTS
REN48807  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,270,349 - 108,270,576UniSTSGRCh37
Build 366108,377,042 - 108,377,269RGDNCBI36
Celera6109,016,830 - 109,017,057RGD
Cytogenetic Map6q21UniSTS
HuRef6105,839,212 - 105,839,439UniSTS
REN48808  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,270,553 - 108,270,790UniSTSGRCh37
Build 366108,377,246 - 108,377,483RGDNCBI36
Celera6109,017,034 - 109,017,271RGD
Cytogenetic Map6q21UniSTS
HuRef6105,839,416 - 105,839,653UniSTS
REN48809  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,270,767 - 108,271,036UniSTSGRCh37
Build 366108,377,460 - 108,377,729RGDNCBI36
Celera6109,017,248 - 109,017,517RGD
Cytogenetic Map6q21UniSTS
HuRef6105,839,630 - 105,839,899UniSTS
REN48810  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,271,017 - 108,271,285UniSTSGRCh37
Build 366108,377,710 - 108,377,978RGDNCBI36
Celera6109,017,498 - 109,017,766RGD
Cytogenetic Map6q21UniSTS
HuRef6105,839,880 - 105,840,148UniSTS
REN48811  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,271,276 - 108,271,521UniSTSGRCh37
Build 366108,377,969 - 108,378,214RGDNCBI36
Celera6109,017,757 - 109,018,002RGD
Cytogenetic Map6q21UniSTS
HuRef6105,840,139 - 105,840,384UniSTS
REN48812  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,271,516 - 108,271,752UniSTSGRCh37
Build 366108,378,209 - 108,378,445RGDNCBI36
Celera6109,017,997 - 109,018,233RGD
Cytogenetic Map6q21UniSTS
HuRef6105,840,379 - 105,840,615UniSTS
REN48813  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,271,692 - 108,271,939UniSTSGRCh37
Build 366108,378,385 - 108,378,632RGDNCBI36
Celera6109,018,173 - 109,018,420RGD
Cytogenetic Map6q21UniSTS
HuRef6105,840,555 - 105,840,802UniSTS
REN48814  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,271,914 - 108,272,175UniSTSGRCh37
Build 366108,378,607 - 108,378,868RGDNCBI36
Celera6109,018,395 - 109,018,656RGD
Cytogenetic Map6q21UniSTS
HuRef6105,840,777 - 105,841,038UniSTS
REN48815  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,272,153 - 108,272,397UniSTSGRCh37
Build 366108,378,846 - 108,379,090RGDNCBI36
Celera6109,018,634 - 109,018,878RGD
Cytogenetic Map6q21UniSTS
HuRef6105,841,016 - 105,841,260UniSTS
REN48816  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,272,393 - 108,272,622UniSTSGRCh37
Build 366108,379,086 - 108,379,315RGDNCBI36
Celera6109,018,874 - 109,019,103RGD
Cytogenetic Map6q21UniSTS
HuRef6105,841,256 - 105,841,485UniSTS
REN48817  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,272,609 - 108,272,857UniSTSGRCh37
Build 366108,379,302 - 108,379,550RGDNCBI36
Celera6109,019,090 - 109,019,338RGD
Cytogenetic Map6q21UniSTS
HuRef6105,841,472 - 105,841,720UniSTS
REN48818  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,272,680 - 108,272,908UniSTSGRCh37
Build 366108,379,373 - 108,379,601RGDNCBI36
Celera6109,019,161 - 109,019,389RGD
Cytogenetic Map6q21UniSTS
HuRef6105,841,543 - 105,841,771UniSTS
REN48819  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,273,190 - 108,273,422UniSTSGRCh37
Build 366108,379,883 - 108,380,115RGDNCBI36
Celera6109,019,671 - 109,019,903RGD
Cytogenetic Map6q21UniSTS
HuRef6105,842,053 - 105,842,285UniSTS
REN48820  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,273,406 - 108,273,649UniSTSGRCh37
Build 366108,380,099 - 108,380,342RGDNCBI36
Celera6109,019,887 - 109,020,130RGD
Cytogenetic Map6q21UniSTS
HuRef6105,842,269 - 105,842,512UniSTS
REN48821  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,273,459 - 108,273,685UniSTSGRCh37
Build 366108,380,152 - 108,380,378RGDNCBI36
Celera6109,019,940 - 109,020,166RGD
Cytogenetic Map6q21UniSTS
HuRef6105,842,322 - 105,842,548UniSTS
REN48822  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,273,949 - 108,274,186UniSTSGRCh37
Build 366108,380,642 - 108,380,879RGDNCBI36
Celera6109,020,430 - 109,020,667RGD
Cytogenetic Map6q21UniSTS
HuRef6105,842,812 - 105,843,049UniSTS
REN48823  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,274,156 - 108,274,394UniSTSGRCh37
Build 366108,380,849 - 108,381,087RGDNCBI36
Celera6109,020,637 - 109,020,875RGD
Cytogenetic Map6q21UniSTS
HuRef6105,843,019 - 105,843,257UniSTS
REN48824  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,274,336 - 108,274,563UniSTSGRCh37
Build 366108,381,029 - 108,381,256RGDNCBI36
Celera6109,020,817 - 109,021,044RGD
Cytogenetic Map6q21UniSTS
HuRef6105,843,199 - 105,843,426UniSTS
REN48825  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,275,710 - 108,275,935UniSTSGRCh37
Build 366108,382,403 - 108,382,628RGDNCBI36
Celera6109,022,192 - 109,022,417RGD
Cytogenetic Map6q21UniSTS
HuRef6105,844,477 - 105,844,702UniSTS
REN48826  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,275,907 - 108,276,158UniSTSGRCh37
Build 366108,382,600 - 108,382,851RGDNCBI36
Celera6109,022,389 - 109,022,640RGD
Cytogenetic Map6q21UniSTS
HuRef6105,844,674 - 105,844,925UniSTS
REN48827  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,276,146 - 108,276,413UniSTSGRCh37
Build 366108,382,839 - 108,383,106RGDNCBI36
Celera6109,022,628 - 109,022,895RGD
Cytogenetic Map6q21UniSTS
HuRef6105,844,913 - 105,845,180UniSTS
REN48828  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,276,662 - 108,276,887UniSTSGRCh37
Build 366108,383,355 - 108,383,580RGDNCBI36
Celera6109,023,144 - 109,023,369RGD
Cytogenetic Map6q21UniSTS
HuRef6105,845,429 - 105,845,653UniSTS
REN48829  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,276,764 - 108,277,003UniSTSGRCh37
Build 366108,383,457 - 108,383,696RGDNCBI36
Celera6109,023,246 - 109,023,485RGD
Cytogenetic Map6q21UniSTS
HuRef6105,845,530 - 105,845,769UniSTS
REN48830  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,276,986 - 108,277,241UniSTSGRCh37
Build 366108,383,679 - 108,383,934RGDNCBI36
Celera6109,023,468 - 109,023,723RGD
Cytogenetic Map6q21UniSTS
HuRef6105,845,752 - 105,846,007UniSTS
REN48831  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,277,208 - 108,277,442UniSTSGRCh37
Build 366108,383,901 - 108,384,135RGDNCBI36
Celera6109,023,690 - 109,023,924RGD
Cytogenetic Map6q21UniSTS
HuRef6105,845,974 - 105,846,208UniSTS
REN48832  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,277,420 - 108,277,656UniSTSGRCh37
Build 366108,384,113 - 108,384,349RGDNCBI36
Celera6109,023,902 - 109,024,138RGD
Cytogenetic Map6q21UniSTS
HuRef6105,846,186 - 105,846,422UniSTS
REN48833  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,277,629 - 108,277,862UniSTSGRCh37
Build 366108,384,322 - 108,384,555RGDNCBI36
Celera6109,024,111 - 109,024,344RGD
Cytogenetic Map6q21UniSTS
HuRef6105,846,395 - 105,846,628UniSTS
REN48834  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,277,835 - 108,278,089UniSTSGRCh37
Build 366108,384,528 - 108,384,782RGDNCBI36
Celera6109,024,317 - 109,024,571RGD
Cytogenetic Map6q21UniSTS
HuRef6105,846,601 - 105,846,855UniSTS
REN48835  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,278,065 - 108,278,289UniSTSGRCh37
Build 366108,384,758 - 108,384,982RGDNCBI36
Celera6109,024,547 - 109,024,771RGD
Cytogenetic Map6q21UniSTS
HuRef6105,846,831 - 105,847,055UniSTS
REN48836  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,278,262 - 108,278,514UniSTSGRCh37
Build 366108,384,955 - 108,385,207RGDNCBI36
Celera6109,024,744 - 109,024,996RGD
Cytogenetic Map6q21UniSTS
HuRef6105,847,028 - 105,847,280UniSTS
REN48837  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,278,498 - 108,278,744UniSTSGRCh37
Build 366108,385,191 - 108,385,437RGDNCBI36
Celera6109,024,980 - 109,025,226RGD
Cytogenetic Map6q21UniSTS
HuRef6105,847,264 - 105,847,510UniSTS
REN48838  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,278,686 - 108,278,910UniSTSGRCh37
Build 366108,385,379 - 108,385,603RGDNCBI36
Celera6109,025,168 - 109,025,392RGD
Cytogenetic Map6q21UniSTS
HuRef6105,847,452 - 105,847,676UniSTS
REN48839  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,278,888 - 108,279,135UniSTSGRCh37
Build 366108,385,581 - 108,385,828RGDNCBI36
Celera6109,025,370 - 109,025,617RGD
Cytogenetic Map6q21UniSTS
HuRef6105,847,654 - 105,847,901UniSTS
REN48840  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,279,083 - 108,279,320UniSTSGRCh37
Build 366108,385,776 - 108,386,013RGDNCBI36
Celera6109,025,565 - 109,025,802RGD
Cytogenetic Map6q21UniSTS
HuRef6105,847,849 - 105,848,086UniSTS
REN48841  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,279,297 - 108,279,548UniSTSGRCh37
Build 366108,385,990 - 108,386,241RGDNCBI36
Celera6109,025,779 - 109,026,030RGD
Cytogenetic Map6q21UniSTS
HuRef6105,848,063 - 105,848,314UniSTS
REN48842  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,279,344 - 108,279,608UniSTSGRCh37
Build 366108,386,037 - 108,386,301RGDNCBI36
Celera6109,025,826 - 109,026,090RGD
Cytogenetic Map6q21UniSTS
HuRef6105,848,110 - 105,848,374UniSTS
REN48843  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,279,589 - 108,279,850UniSTSGRCh37
Build 366108,386,282 - 108,386,543RGDNCBI36
Celera6109,026,071 - 109,026,332RGD
Cytogenetic Map6q21UniSTS
HuRef6105,848,355 - 105,848,616UniSTS
REN48844  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,279,825 - 108,280,097UniSTSGRCh37
Build 366108,386,518 - 108,386,790RGDNCBI36
Celera6109,026,307 - 109,026,579RGD
Cytogenetic Map6q21UniSTS
HuRef6105,848,591 - 105,848,863UniSTS
REN48845  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,280,076 - 108,280,342UniSTSGRCh37
Build 366108,386,769 - 108,387,035RGDNCBI36
Celera6109,026,558 - 109,026,824RGD
Cytogenetic Map6q21UniSTS
HuRef6105,848,842 - 105,849,108UniSTS
REN48846  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,280,340 - 108,280,564UniSTSGRCh37
Build 366108,387,033 - 108,387,257RGDNCBI36
Celera6109,026,822 - 109,027,046RGD
Cytogenetic Map6q21UniSTS
HuRef6105,849,106 - 105,849,330UniSTS
REN48847  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,280,554 - 108,280,794UniSTSGRCh37
Build 366108,387,247 - 108,387,487RGDNCBI36
Celera6109,027,036 - 109,027,276RGD
Cytogenetic Map6q21UniSTS
HuRef6105,849,320 - 105,849,560UniSTS
REN48848  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,280,793 - 108,281,035UniSTSGRCh37
Build 366108,387,486 - 108,387,728RGDNCBI36
Celera6109,027,275 - 109,027,517RGD
Cytogenetic Map6q21UniSTS
HuRef6105,849,559 - 105,849,801UniSTS
REN48849  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,281,006 - 108,281,270UniSTSGRCh37
Build 366108,387,699 - 108,387,963RGDNCBI36
Celera6109,027,488 - 109,027,752RGD
Cytogenetic Map6q21UniSTS
HuRef6105,849,772 - 105,850,036UniSTS
1914  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,235,307 - 108,235,374UniSTSGRCh37
Build 366108,342,000 - 108,342,067RGDNCBI36
Celera6108,982,080 - 108,982,147RGD
Cytogenetic Map6q21UniSTS
HuRef6105,804,730 - 105,804,797UniSTS
GeneMap99-GB4 RH Map6461.89UniSTS
NCBI RH Map61400.2UniSTS
D6S2040  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,191,051 - 108,191,200UniSTSGRCh37
Build 366108,297,744 - 108,297,893RGDNCBI36
Celera6108,937,847 - 108,937,995RGD
Cytogenetic Map6q21UniSTS
HuRef6105,760,348 - 105,760,493UniSTS
GeneMap99-GB4 RH Map6459.97UniSTS
GeneMap99-G3 RH Map64869.0UniSTS
RH17473  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,190,221 - 108,190,393UniSTSGRCh37
Build 366108,296,914 - 108,297,086RGDNCBI36
Celera6108,937,023 - 108,937,195RGD
Cytogenetic Map6q21UniSTS
HuRef6105,759,524 - 105,759,696UniSTS
GeneMap99-GB4 RH Map6466.71UniSTS
RH17430  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,192,738 - 108,192,900UniSTSGRCh37
GRCh37198,012,527 - 98,012,689UniSTSGRCh37
Build 36197,785,115 - 97,785,277RGDNCBI36
Celera196,266,242 - 96,266,404RGD
Celera6108,939,533 - 108,939,695UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map6q21UniSTS
HuRef196,133,530 - 96,133,692UniSTS
HuRef6105,762,031 - 105,762,193UniSTS
GeneMap99-GB4 RH Map6466.71UniSTS
stSG634007  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,266,823 - 108,267,850UniSTSGRCh37
Build 366108,373,516 - 108,374,543RGDNCBI36
Celera6109,013,304 - 109,014,331RGD
HuRef6105,835,686 - 105,836,713UniSTS
stSG634008  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,267,832 - 108,269,116UniSTSGRCh37
Build 366108,374,525 - 108,375,809RGDNCBI36
Celera6109,014,313 - 109,015,597RGD
HuRef6105,836,695 - 105,837,979UniSTS
stSG634009  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,268,577 - 108,269,672UniSTSGRCh37
Build 366108,375,270 - 108,376,365RGDNCBI36
Celera6109,015,058 - 109,016,153RGD
HuRef6105,837,440 - 105,838,535UniSTS
stSG634010  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,271,969 - 108,273,259UniSTSGRCh37
Build 366108,378,662 - 108,379,952RGDNCBI36
Celera6109,018,450 - 109,019,740RGD
HuRef6105,840,832 - 105,842,122UniSTS
stSG634011  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,273,254 - 108,274,503UniSTSGRCh37
Build 366108,379,947 - 108,381,196RGDNCBI36
Celera6109,019,735 - 109,020,984RGD
HuRef6105,842,117 - 105,843,366UniSTS
stSG634013  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,275,955 - 108,276,166UniSTSGRCh37
Build 366108,382,648 - 108,382,859RGDNCBI36
Celera6109,022,437 - 109,022,648RGD
HuRef6105,844,722 - 105,844,933UniSTS
stSG634014  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,276,184 - 108,277,449UniSTSGRCh37
Build 366108,382,877 - 108,384,142RGDNCBI36
Celera6109,022,666 - 109,023,931RGD
HuRef6105,844,951 - 105,846,215UniSTS
stSG634015  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,277,433 - 108,278,735UniSTSGRCh37
Build 366108,384,126 - 108,385,428RGDNCBI36
Celera6109,023,915 - 109,025,217RGD
HuRef6105,846,199 - 105,847,501UniSTS
stSG634017  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,279,811 - 108,281,109UniSTSGRCh37
Build 366108,386,504 - 108,387,802RGDNCBI36
Celera6109,026,293 - 109,027,591RGD
HuRef6105,848,577 - 105,849,875UniSTS
SEC63_2452  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,191,853 - 108,192,635UniSTSGRCh37
Build 366108,298,546 - 108,299,328RGDNCBI36
Celera6108,938,648 - 108,939,430RGD
HuRef6105,761,146 - 105,761,928UniSTS
D10S16   No map positions available.
D10S16  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map2q11.2-q12UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map3p22UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map9p13.3-p12UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map5q21-q22UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map18q12UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map22q13.31-q13.33UniSTS
Cytogenetic Map1q24.1UniSTS
Cytogenetic Map7q32.2UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map1q42.11UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map2q11.2-q12.1UniSTS
Cytogenetic Map3q21.2UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map20q12UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map11q14.2UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map4q34UniSTS
Cytogenetic Map2p22-p21UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map1p36.23UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map11p15.3-p15.1UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map3q26UniSTS
Cytogenetic Map12p12.1-p11.2UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic MapXq23UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map6q23.3UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map8q23.1UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map5p15.1UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map17qterUniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.32UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map20q12-q13.12UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map5q31.2-q34UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map1pter-q31.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map3p23-p21UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map2q24UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map16p13.1UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map10p12.31UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map8q21.2UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map1p36.1-p34UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map7q31.1-q31.2UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map15q21.1-q21.2UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map3p11.1UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map13q12UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic MapXq21UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map4q25UniSTS
Cytogenetic Map3q22.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map11q14.3UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map15q24.2UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map7q11.1UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map18q21.3UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map2q34UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map7q22.3UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map4q35UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map7q36.2UniSTS
Cytogenetic Map3p23UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q31-q34UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic Map4p15.3UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map12q14.2UniSTS
Cytogenetic Map2q31.1-q31.2UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map6q22.32UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map12q12-q13UniSTS
Cytogenetic Map9p22.3UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map19qterUniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map12q14.1UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map17pUniSTS
Cytogenetic Map11p14.1UniSTS
Cytogenetic Map2p13.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map3q26.2UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2162
Count of miRNA genes:1039
Interacting mature miRNAs:1286
Transcripts:ENST00000369002, ENST00000429168, ENST00000446496, ENST00000459782, ENST00000460009, ENST00000465210, ENST00000466419, ENST00000473746, ENST00000484803, ENST00000489455
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2419 2109 1673 581 1344 421 4048 1646 3315 348 1442 1605 171 1203 2483 3 2
Low 20 881 53 43 607 44 308 551 419 71 18 8 4 1 1 305 3
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_007214 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017010218 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF100141 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF119883 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI559292 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ011779 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ420532 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK001465 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK027374 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK074835 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL024507 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL137338 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC001153 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC009066 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC023598 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC047221 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC048287 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE972247 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM764168 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471051 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB049187 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178551 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178552 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X75689 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000369002   ⟹   ENSP00000357998
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl6107,867,756 - 107,958,208 (-)Ensembl
RefSeq Acc Id: ENST00000429168   ⟹   ENSP00000403144
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl6107,909,008 - 107,957,340 (-)Ensembl
RefSeq Acc Id: ENST00000446496   ⟹   ENSP00000410968
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl6107,924,818 - 107,958,111 (-)Ensembl
RefSeq Acc Id: ENST00000459782
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl6107,870,765 - 107,877,400 (-)Ensembl
RefSeq Acc Id: ENST00000460009
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl6107,954,584 - 107,958,042 (-)Ensembl
RefSeq Acc Id: ENST00000465210
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl6107,880,960 - 107,883,112 (-)Ensembl
RefSeq Acc Id: ENST00000466419
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl6107,893,580 - 107,902,900 (-)Ensembl
RefSeq Acc Id: ENST00000473746
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl6107,872,885 - 107,883,467 (-)Ensembl
RefSeq Acc Id: ENST00000484803
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl6107,911,168 - 107,957,931 (-)Ensembl
RefSeq Acc Id: ENST00000489455
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl6107,906,465 - 107,909,159 (-)Ensembl
RefSeq Acc Id: NM_007214   ⟹   NP_009145
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386107,867,756 - 107,958,208 (-)NCBI
GRCh376108,188,960 - 108,279,482 (-)ENTREZGENE
Build 366108,298,215 - 108,386,086 (-)NCBI Archive
HuRef6105,758,265 - 105,848,248 (-)ENTREZGENE
CHM1_16108,451,504 - 108,542,131 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017010218   ⟹   XP_016865707
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386107,870,765 - 107,958,114 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_009145   ⟸   NM_007214
- UniProtKB: Q9UGP8 (UniProtKB/Swiss-Prot),   A0A0S2Z5M1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016865707   ⟸   XM_017010218
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000403144   ⟸   ENST00000429168
RefSeq Acc Id: ENSP00000410968   ⟸   ENST00000446496
RefSeq Acc Id: ENSP00000357998   ⟸   ENST00000369002
Protein Domains
J   SEC63

Promoters
RGD ID:7208829
Promoter ID:EPDNEW_H10160
Type:initiation region
Name:SEC63_1
Description:SEC63 homolog, protein translocation regulator
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh386107,958,208 - 107,958,268EPDNEW
RGD ID:6804764
Promoter ID:HG_KWN:54544
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000316386
Position:
Human AssemblyChrPosition (strand)Source
Build 366108,385,116 - 108,385,616 (-)MPROMDB
RGD ID:6804763
Promoter ID:HG_KWN:54545
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_007214,   OTTHUMT00000041706,   OTTHUMT00000110401,   OTTHUMT00000316389
Position:
Human AssemblyChrPosition (strand)Source
Build 366108,385,904 - 108,386,404 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_007214.5(SEC63):c.173G>A (p.Trp58Ter) single nucleotide variant Polycystic liver disease 2 [RCV000002251] Chr6:107929466 [GRCh38]
Chr6:108250670 [GRCh37]
Chr6:6q21
pathogenic
NM_007214.5(SEC63):c.442_443insA (p.Ala148fs) insertion Polycystic liver disease 2 [RCV000002252] Chr6:107921806..107921807 [GRCh38]
Chr6:108243010..108243011 [GRCh37]
Chr6:6q21
pathogenic
NM_007214.5(SEC63):c.733+1G>A single nucleotide variant Polycystic liver disease 2 [RCV000002253] Chr6:107908926 [GRCh38]
Chr6:108230130 [GRCh37]
Chr6:6q21
pathogenic
NM_007214.4(SEC63):c.1702_1704delGAA (p.Glu568del) deletion Congenital cystic disease of liver [RCV000002254]|Polycystic liver disease 2 [RCV000002254] Chr6:107883117..107883119 [GRCh38]
Chr6:108204321..108204323 [GRCh37]
Chr6:6q21
pathogenic
NM_007214.4(SEC63):c.214C>T (p.Pro72Ser) single nucleotide variant Malignant melanoma [RCV000067064] Chr6:107929425 [GRCh38]
Chr6:108250629 [GRCh37]
Chr6:108357322 [NCBI36]
Chr6:6q21
not provided
NM_007214.5(SEC63):c.340-12_340-7delinsCCC indel not specified [RCV000249402] Chr6:107921916..107921921 [GRCh38]
Chr6:108243120..108243125 [GRCh37]
Chr6:6q21
benign|likely benign|conflicting interpretations of pathogenicity
NM_007214.5(SEC63):c.340-12_340-7delinsCCCC indel not specified [RCV000254179] Chr6:107921916..107921921 [GRCh38]
Chr6:108243120..108243125 [GRCh37]
Chr6:6q21
benign|likely benign|conflicting interpretations of pathogenicity
NM_007214.5(SEC63):c.564C>T (p.Asn188=) single nucleotide variant Polycystic liver disease 2 [RCV000327952]|not specified [RCV000081500] Chr6:107912725 [GRCh38]
Chr6:108233929 [GRCh37]
Chr6:6q21
benign
NM_007214.5(SEC63):c.1605dup (p.Pro536fs) duplication not provided [RCV000175067] Chr6:107893550..107893551 [GRCh38]
Chr6:108214754..108214755 [GRCh37]
Chr6:6q21
pathogenic
NM_007214.5(SEC63):c.340-12_340-11del deletion Polycystic liver disease 1 [RCV000280329]|not specified [RCV000178283] Chr6:107921920..107921921 [GRCh38]
Chr6:108243124..108243125 [GRCh37]
Chr6:6q21
benign|likely benign
GRCh38/hg38 6q21(chr6:107010730-108039165)x3 copy number gain See cases [RCV000135360] Chr6:107010730..108039165 [GRCh38]
Chr6:107331934..108360369 [GRCh37]
Chr6:107438627..108467062 [NCBI36]
Chr6:6q21
uncertain significance
GRCh38/hg38 6q16.3-21(chr6:102356502-111049879)x1 copy number loss See cases [RCV000134806] Chr6:102356502..111049879 [GRCh38]
Chr6:102804377..111371082 [GRCh37]
Chr6:102911070..111477775 [NCBI36]
Chr6:6q16.3-21
pathogenic
GRCh38/hg38 6q21-22.1(chr6:107370141-115827482)x1 copy number loss See cases [RCV000138006] Chr6:107370141..115827482 [GRCh38]
Chr6:107691345..116148646 [GRCh37]
Chr6:107798038..116255339 [NCBI36]
Chr6:6q21-22.1
pathogenic
GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3 copy number gain See cases [RCV000139729] Chr6:74382807..142040500 [GRCh38]
Chr6:75092523..142361637 [GRCh37]
Chr6:75149243..142403330 [NCBI36]
Chr6:6q13-24.1
pathogenic
GRCh38/hg38 6q16.1-22.31(chr6:96609994-122161548)x1 copy number loss See cases [RCV000139465] Chr6:96609994..122161548 [GRCh38]
Chr6:97057870..122482694 [GRCh37]
Chr6:97164591..122524393 [NCBI36]
Chr6:6q16.1-22.31
pathogenic
GRCh38/hg38 6q21(chr6:107445281-110547907)x1 copy number loss See cases [RCV000141382] Chr6:107445281..110547907 [GRCh38]
Chr6:107766485..110869110 [GRCh37]
Chr6:107873178..110975803 [NCBI36]
Chr6:6q21
pathogenic
GRCh38/hg38 6q21-22.31(chr6:106503719-125781219)x1 copy number loss See cases [RCV000141587] Chr6:106503719..125781219 [GRCh38]
Chr6:106951594..126102365 [GRCh37]
Chr6:107058287..126144058 [NCBI36]
Chr6:6q21-22.31
pathogenic
GRCh38/hg38 6q16.3-21(chr6:103279465-113934239)x1 copy number loss See cases [RCV000142287] Chr6:103279465..113934239 [GRCh38]
Chr6:103727340..114255403 [GRCh37]
Chr6:103834033..114362096 [NCBI36]
Chr6:6q16.3-21
pathogenic
GRCh38/hg38 6q16.3-22.31(chr6:100054889-120488154)x1 copy number loss See cases [RCV000143227] Chr6:100054889..120488154 [GRCh38]
Chr6:100502765..120809300 [GRCh37]
Chr6:100609486..120850999 [NCBI36]
Chr6:6q16.3-22.31
pathogenic
NM_007214.5(SEC63):c.340-12G>T single nucleotide variant not specified [RCV000153930] Chr6:107921921 [GRCh38]
Chr6:108243125 [GRCh37]
Chr6:6q21
benign
NM_007214.5(SEC63):c.340-12del deletion Polycystic liver disease 1 [RCV000339022]|not specified [RCV000153931] Chr6:107921921 [GRCh38]
Chr6:108243125 [GRCh37]
Chr6:6q21
benign
NM_007214.5(SEC63):c.109del (p.Arg37fs) deletion not provided [RCV000173417] Chr6:107957901 [GRCh38]
Chr6:108279105 [GRCh37]
Chr6:6q21
pathogenic
NM_007214.5(SEC63):c.452+1G>A single nucleotide variant Polycystic liver disease 1 [RCV000210666]|not provided [RCV000788737] Chr6:107921796 [GRCh38]
Chr6:108243000 [GRCh37]
Chr6:6q21
pathogenic|likely pathogenic
NM_007214.5(SEC63):c.220del (p.Thr73_Val74insTer) deletion Polycystic liver disease 1 [RCV000210741] Chr6:107929419 [GRCh38]
Chr6:108250623 [GRCh37]
Chr6:6q21
pathogenic
NM_007214.5(SEC63):c.*3502C>T single nucleotide variant Polycystic liver disease 2 [RCV000283394] Chr6:107868202 [GRCh38]
Chr6:108189406 [GRCh37]
Chr6:6q21
benign|likely benign
NM_007214.5(SEC63):c.*1113_*1115del deletion Polycystic liver disease 1 [RCV000284022] Chr6:107870589..107870591 [GRCh38]
Chr6:108191793..108191795 [GRCh37]
Chr6:6q21
uncertain significance
NM_007214.5(SEC63):c.*907C>T single nucleotide variant Polycystic liver disease 2 [RCV000285297] Chr6:107870797 [GRCh38]
Chr6:108192001 [GRCh37]
Chr6:6q21
benign|likely benign
NM_007214.5(SEC63):c.*3580G>A single nucleotide variant Polycystic liver disease 2 [RCV000280176] Chr6:107868124 [GRCh38]
Chr6:108189328 [GRCh37]
Chr6:6q21
benign
NM_007214.4(SEC63):c.-215G>A single nucleotide variant Polycystic liver disease 1 [RCV000274205] Chr6:107958224 [GRCh38]
Chr6:108279428 [GRCh37]
Chr6:6q21
uncertain significance
NM_007214.5(SEC63):c.2027C>T (p.Thr676Ile) single nucleotide variant Polycystic liver disease 2 [RCV000268000]|not specified [RCV000244225] Chr6:107876571 [GRCh38]
Chr6:108197775 [GRCh37]
Chr6:6q21
benign|likely benign
GRCh37/hg19 6q21(chr6:108278386-108831557)x3 copy number gain See cases [RCV000240339] Chr6:108278386..108831557 [GRCh37]
Chr6:6q21
uncertain significance
NM_007214.5(SEC63):c.*1685A>C single nucleotide variant Polycystic liver disease 2 [RCV000272069] Chr6:107870019 [GRCh38]
Chr6:108191223 [GRCh37]
Chr6:6q21
likely benign|uncertain significance
NM_007214.5(SEC63):c.*3948A>T single nucleotide variant Polycystic liver disease 1 [RCV000277099] Chr6:107867756 [GRCh38]
Chr6:108188960 [GRCh37]
Chr6:6q21
uncertain significance
NM_007214.5(SEC63):c.1176G>A (p.Glu392=) single nucleotide variant Polycystic liver disease 2 [RCV000267067] Chr6:107902877 [GRCh38]
Chr6:108224081 [GRCh37]
Chr6:6q21
likely benign
NM_007214.5(SEC63):c.807G>A (p.Thr269=) single nucleotide variant Polycystic liver disease 2 [RCV000272877]|not provided [RCV000937245] Chr6:107906704 [GRCh38]
Chr6:108227908 [GRCh37]
Chr6:6q21
benign|likely benign
NM_007214.4(SEC63):c.-268C>A single nucleotide variant Polycystic liver disease 1 [RCV000277607] Chr6:107958277 [GRCh38]
Chr6:108279481 [GRCh37]
Chr6:6q21
likely benign
NM_007214.5(SEC63):c.340-9_340-7del deletion Polycystic liver disease 1 [RCV000352817] Chr6:107921916..107921918 [GRCh38]
Chr6:108243120..108243122 [GRCh37]
Chr6:6q21
benign
NM_007214.5(SEC63):c.*1230T>C single nucleotide variant Polycystic liver disease 2 [RCV000373853] Chr6:107870474 [GRCh38]
Chr6:108191678 [GRCh37]
Chr6:6q21
likely benign|uncertain significance
NM_007214.5(SEC63):c.*3171G>C single nucleotide variant Polycystic liver disease 2 [RCV000267518] Chr6:107868533 [GRCh38]
Chr6:108189737 [GRCh37]
Chr6:6q21
uncertain significance
NM_007214.5(SEC63):c.*3497A>G single nucleotide variant Polycystic liver disease 2 [RCV000344708] Chr6:107868207 [GRCh38]
Chr6:108189411 [GRCh37]
Chr6:6q21
benign
NM_007214.5(SEC63):c.*861A>G single nucleotide variant Polycystic liver disease 2 [RCV000344906] Chr6:107870843 [GRCh38]
Chr6:108192047 [GRCh37]
Chr6:6q21
benign|likely benign
NM_007214.5(SEC63):c.*1526T>C single nucleotide variant Polycystic liver disease 2 [RCV000367903] Chr6:107870178 [GRCh38]
Chr6:108191382 [GRCh37]
Chr6:6q21
benign
NM_007214.5(SEC63):c.1666G>A (p.Val556Ile) single nucleotide variant Polycystic liver disease 2 [RCV000300586] Chr6:107893490 [GRCh38]
Chr6:108214694 [GRCh37]
Chr6:6q21
benign|likely benign
NM_007214.5(SEC63):c.*2376A>T single nucleotide variant Polycystic liver disease 2 [RCV000269087] Chr6:107869328 [GRCh38]
Chr6:108190532 [GRCh37]
Chr6:6q21
benign|likely benign
NM_007214.5(SEC63):c.1278C>T (p.Phe426=) single nucleotide variant Polycystic liver disease 2 [RCV000302362]|not provided [RCV000971138] Chr6:107901449 [GRCh38]
Chr6:108222653 [GRCh37]
Chr6:6q21
benign|likely benign
NM_007214.5(SEC63):c.2134T>C (p.Leu712=) single nucleotide variant Polycystic liver disease 2 [RCV000321918]|not provided [RCV000917204] Chr6:107872813 [GRCh38]
Chr6:108194017 [GRCh37]
Chr6:6q21
benign|likely benign
NM_007214.5(SEC63):c.1936-4_1936-3insT insertion Polycystic liver disease 1 [RCV000323104] Chr6:107876665..107876666 [GRCh38]
Chr6:108197869..108197870 [GRCh37]
Chr6:6q21
uncertain significance
NM_007214.5(SEC63):c.2034+10A>G single nucleotide variant Polycystic liver disease 2 [RCV000376510] Chr6:107876554 [GRCh38]
Chr6:108197758 [GRCh37]
Chr6:6q21
likely benign|uncertain significance
NM_007214.5(SEC63):c.237G>A (p.Leu79=) single nucleotide variant Polycystic liver disease 2 [RCV000304010] Chr6:107924920 [GRCh38]
Chr6:108246124 [GRCh37]
Chr6:6q21
likely benign|uncertain significance
NM_007214.5(SEC63):c.1625_1626insTAC (p.Gln543_Ser544insThr) insertion Polycystic liver disease 1 [RCV000355467] Chr6:107893530..107893531 [GRCh38]
Chr6:108214734..108214735 [GRCh37]
Chr6:6q21
likely benign
NM_007214.5(SEC63):c.*3431A>C single nucleotide variant Polycystic liver disease 2 [RCV000356173] Chr6:107868273 [GRCh38]
Chr6:108189477 [GRCh37]
Chr6:6q21
benign
NM_007214.5(SEC63):c.*1398A>C single nucleotide variant Polycystic liver disease 2 [RCV000373499] Chr6:107870306 [GRCh38]
Chr6:108191510 [GRCh37]
Chr6:6q21
benign
NM_007214.5(SEC63):c.*2607G>C single nucleotide variant Polycystic liver disease 2 [RCV000303290] Chr6:107869097 [GRCh38]
Chr6:108190301 [GRCh37]
Chr6:6q21
likely benign|uncertain significance
NM_007214.5(SEC63):c.*2662G>A single nucleotide variant Polycystic liver disease 2 [RCV000356871] Chr6:107869042 [GRCh38]
Chr6:108190246 [GRCh37]
Chr6:6q21
benign
NM_007214.5(SEC63):c.*1901A>G single nucleotide variant Polycystic liver disease 2 [RCV000305799] Chr6:107869803 [GRCh38]
Chr6:108191007 [GRCh37]
Chr6:6q21
benign
NM_007214.5(SEC63):c.1936-4_1936-3insTT insertion Polycystic liver disease 1 [RCV000382141] Chr6:107876665..107876666 [GRCh38]
Chr6:108197869..108197870 [GRCh37]
Chr6:6q21
likely benign
NM_007214.5(SEC63):c.*3031del deletion Polycystic liver disease 1 [RCV000288929] Chr6:107868673 [GRCh38]
Chr6:108189877 [GRCh37]
Chr6:6q21
uncertain significance
NM_007214.5(SEC63):c.*2223G>A single nucleotide variant Polycystic liver disease 2 [RCV000328528] Chr6:107869481 [GRCh38]
Chr6:108190685 [GRCh37]
Chr6:6q21
uncertain significance
NM_007214.5(SEC63):c.*2886A>C single nucleotide variant Polycystic liver disease 2 [RCV000350938] Chr6:107868818 [GRCh38]
Chr6:108190022 [GRCh37]
Chr6:6q21
benign|likely benign
NM_007214.5(SEC63):c.*3128G>A single nucleotide variant Polycystic liver disease 2 [RCV000377473] Chr6:107868576 [GRCh38]
Chr6:108189780 [GRCh37]
Chr6:6q21
benign|likely benign
NM_007214.5(SEC63):c.*1839C>G single nucleotide variant Polycystic liver disease 2 [RCV000360504] Chr6:107869865 [GRCh38]
Chr6:108191069 [GRCh37]
Chr6:6q21
benign|likely benign
NM_007214.5(SEC63):c.*396T>A single nucleotide variant Polycystic liver disease 2 [RCV000404977] Chr6:107871308 [GRCh38]
Chr6:108192512 [GRCh37]
Chr6:6q21
likely benign
NM_007214.5(SEC63):c.*1790_*1793del deletion Polycystic liver disease 1 [RCV000405733] Chr6:107869911..107869914 [GRCh38]
Chr6:108191115..108191118 [GRCh37]
Chr6:6q21
benign
NM_007214.5(SEC63):c.*3127C>T single nucleotide variant Polycystic liver disease 2 [RCV000290063] Chr6:107868577 [GRCh38]
Chr6:108189781 [GRCh37]
Chr6:6q21
benign|likely benign
NM_007214.5(SEC63):c.*3895T>C single nucleotide variant Polycystic liver disease 2 [RCV000329853] Chr6:107867809 [GRCh38]
Chr6:108189013 [GRCh37]
Chr6:6q21
benign|likely benign
NM_007214.5(SEC63):c.*3210C>T single nucleotide variant Polycystic liver disease 2 [RCV000378408] Chr6:107868494 [GRCh38]
Chr6:108189698 [GRCh37]
Chr6:6q21
likely benign|uncertain significance
NM_007214.5(SEC63):c.1210-7del deletion Polycystic liver disease 1 [RCV000361711] Chr6:107901524 [GRCh38]
Chr6:108222728 [GRCh37]
Chr6:6q21
uncertain significance
NM_007214.5(SEC63):c.125-13del deletion Polycystic liver disease 1 [RCV000309923] Chr6:107929527 [GRCh38]
Chr6:108250731 [GRCh37]
Chr6:6q21
likely benign
NM_007214.5(SEC63):c.*1612T>C single nucleotide variant Polycystic liver disease 2 [RCV000331802] Chr6:107870092 [GRCh38]
Chr6:108191296 [GRCh37]
Chr6:6q21
benign|likely benign
NM_007214.5(SEC63):c.*123T>A single nucleotide variant Polycystic liver disease 2 [RCV000353499] Chr6:107871581 [GRCh38]
Chr6:108192785 [GRCh37]
Chr6:6q21
benign
NM_007214.5(SEC63):c.*3510T>A single nucleotide variant Polycystic liver disease 2 [RCV000380531] Chr6:107868194 [GRCh38]
Chr6:108189398 [GRCh37]
Chr6:6q21
uncertain significance
NM_007214.5(SEC63):c.*2876T>C single nucleotide variant Polycystic liver disease 2 [RCV000408411] Chr6:107868828 [GRCh38]
Chr6:108190032 [GRCh37]
Chr6:6q21
uncertain significance
NM_007214.5(SEC63):c.*3393C>T single nucleotide variant Polycystic liver disease 2 [RCV000259309] Chr6:107868311 [GRCh38]
Chr6:108189515 [GRCh37]
Chr6:6q21
benign
NM_007214.5(SEC63):c.*411C>T single nucleotide variant Polycystic liver disease 2 [RCV000310015] Chr6:107871293 [GRCh38]
Chr6:108192497 [GRCh37]
Chr6:6q21
benign|likely benign
NM_007214.5(SEC63):c.*3498C>T single nucleotide variant Polycystic liver disease 2 [RCV000310824] Chr6:107868206 [GRCh38]
Chr6:108189410 [GRCh37]
Chr6:6q21
benign|likely benign
NM_007214.5(SEC63):c.*2811C>T single nucleotide variant Polycystic liver disease 2 [RCV000403269] Chr6:107868893 [GRCh38]
Chr6:108190097 [GRCh37]
Chr6:6q21
benign
NM_007214.5(SEC63):c.1674T>C (p.Asn558=) single nucleotide variant Polycystic liver disease 2 [RCV000403780] Chr6:107893482 [GRCh38]
Chr6:108214686 [GRCh37]
Chr6:6q21
benign|likely benign
NM_007214.5(SEC63):c.*256T>C single nucleotide variant Polycystic liver disease 2 [RCV000276351] Chr6:107871448 [GRCh38]
Chr6:108192652 [GRCh37]
Chr6:6q21
benign|likely benign
NM_007214.5(SEC63):c.*2086G>C single nucleotide variant Polycystic liver disease 2 [RCV000383072] Chr6:107869618 [GRCh38]
Chr6:108190822 [GRCh37]
Chr6:6q21
benign|likely benign
NM_007214.5(SEC63):c.*2046C>G single nucleotide variant Polycystic liver disease 2 [RCV000293320] Chr6:107869658 [GRCh38]
Chr6:108190862 [GRCh37]
Chr6:6q21
benign|likely benign
NM_007214.5(SEC63):c.340-12_340-10del deletion Polycystic liver disease 1 [RCV000388763] Chr6:107921919..107921921 [GRCh38]
Chr6:108243123..108243125 [GRCh37]
Chr6:6q21
benign
NM_007214.5(SEC63):c.*2624T>C single nucleotide variant Polycystic liver disease 2 [RCV000262007] Chr6:107869080 [GRCh38]
Chr6:108190284 [GRCh37]
Chr6:6q21
likely benign|uncertain significance
NM_007214.5(SEC63):c.*1936del deletion Polycystic liver disease 1 [RCV000294632] Chr6:107869768 [GRCh38]
Chr6:108190972 [GRCh37]
Chr6:6q21
likely benign
NM_007214.5(SEC63):c.910C>A (p.Leu304Ile) single nucleotide variant Polycystic liver disease 2 [RCV000326733] Chr6:107906499 [GRCh38]
Chr6:108227703 [GRCh37]
Chr6:6q21
uncertain significance
NM_007214.5(SEC63):c.*3480del deletion Polycystic liver disease 1 [RCV000314346] Chr6:107868224 [GRCh38]
Chr6:108189428 [GRCh37]
Chr6:6q21
benign
NM_007214.5(SEC63):c.*3107T>C single nucleotide variant Polycystic liver disease 2 [RCV000347302] Chr6:107868597 [GRCh38]
Chr6:108189801 [GRCh37]
Chr6:6q21
uncertain significance
NM_007214.5(SEC63):c.*3499A>C single nucleotide variant Polycystic liver disease 2 [RCV000390798] Chr6:107868205 [GRCh38]
Chr6:108189409 [GRCh37]
Chr6:6q21
benign|likely benign
NM_007214.5(SEC63):c.*1927_*1932del deletion Polycystic liver disease 1 [RCV000391422] Chr6:107869772..107869777 [GRCh38]
Chr6:108190976..108190981 [GRCh37]
Chr6:6q21
uncertain significance
NM_007214.5(SEC63):c.340-15_340-13del deletion Polycystic liver disease 1 [RCV000391490] Chr6:107921922..107921924 [GRCh38]
Chr6:108243126..108243128 [GRCh37]
Chr6:6q21
likely benign
NM_007214.5(SEC63):c.2205G>C (p.Gly735=) single nucleotide variant Polycystic liver disease 2 [RCV000263414] Chr6:107871782 [GRCh38]
Chr6:108192986 [GRCh37]
Chr6:6q21
likely benign|uncertain significance
NM_007214.5(SEC63):c.230T>C (p.Ile77Thr) single nucleotide variant Polycystic liver disease 2 [RCV000363330] Chr6:107924927 [GRCh38]
Chr6:108246131 [GRCh37]
Chr6:6q21
likely benign
NM_007214.4(SEC63):c.-264T>C single nucleotide variant Polycystic liver disease 1 [RCV000369927] Chr6:107958273 [GRCh38]
Chr6:108279477 [GRCh37]
Chr6:6q21
likely benign
NM_007214.5(SEC63):c.*3334C>T single nucleotide variant Polycystic liver disease 2 [RCV000316881] Chr6:107868370 [GRCh38]
Chr6:108189574 [GRCh37]
Chr6:6q21
benign
NM_007214.5(SEC63):c.*2456G>A single nucleotide variant Polycystic liver disease 2 [RCV000363646] Chr6:107869248 [GRCh38]
Chr6:108190452 [GRCh37]
Chr6:6q21
benign|likely benign
NM_007214.5(SEC63):c.-77C>T single nucleotide variant Polycystic liver disease 2 [RCV000364641] Chr6:107958086 [GRCh38]
Chr6:108279290 [GRCh37]
Chr6:6q21
benign
NM_007214.5(SEC63):c.*358T>C single nucleotide variant Polycystic liver disease 2 [RCV000311682] Chr6:107871346 [GRCh38]
Chr6:108192550 [GRCh37]
Chr6:6q21
likely benign|uncertain significance
NM_007214.5(SEC63):c.*257A>G single nucleotide variant Polycystic liver disease 2 [RCV000370947] Chr6:107871447 [GRCh38]
Chr6:108192651 [GRCh37]
Chr6:6q21
likely benign
NM_007214.5(SEC63):c.*3469T>G single nucleotide variant Polycystic liver disease 2 [RCV000371166] Chr6:107868235 [GRCh38]
Chr6:108189439 [GRCh37]
Chr6:6q21
likely benign
NM_007214.5(SEC63):c.1441-5C>T single nucleotide variant Polycystic liver disease 2 [RCV000265992] Chr6:107893902 [GRCh38]
Chr6:108215106 [GRCh37]
Chr6:6q21
benign|likely benign
NM_007214.5(SEC63):c.*129G>A single nucleotide variant Polycystic liver disease 2 [RCV000298740] Chr6:107871575 [GRCh38]
Chr6:108192779 [GRCh37]
Chr6:6q21
likely benign|uncertain significance
NM_007214.5(SEC63):c.*3501A>G single nucleotide variant Polycystic liver disease 2 [RCV000340699] Chr6:107868203 [GRCh38]
Chr6:108189407 [GRCh37]
Chr6:6q21
benign|likely benign
NM_007214.5(SEC63):c.*1926_*1931del deletion Polycystic liver disease 1 [RCV000340980] Chr6:107869773..107869778 [GRCh38]
Chr6:108190977..108190982 [GRCh37]
Chr6:6q21
benign
NM_007214.5(SEC63):c.*3574_*3575insGAC insertion Polycystic liver disease 1 [RCV000342237] Chr6:107868129..107868130 [GRCh38]
Chr6:108189333..108189334 [GRCh37]
Chr6:6q21
benign
NM_007214.5(SEC63):c.*396T>C single nucleotide variant Polycystic liver disease 2 [RCV000364719] Chr6:107871308 [GRCh38]
Chr6:108192512 [GRCh37]
Chr6:6q21
uncertain significance
NM_007214.5(SEC63):c.*2705T>C single nucleotide variant Polycystic liver disease 2 [RCV000297475] Chr6:107868999 [GRCh38]
Chr6:108190203 [GRCh37]
Chr6:6q21
benign
NM_007214.4(SEC63):c.-237C>T single nucleotide variant Polycystic liver disease 1 [RCV000331634] Chr6:107958246 [GRCh38]
Chr6:108279450 [GRCh37]
Chr6:6q21
uncertain significance
NM_007214.5(SEC63):c.*3704C>G single nucleotide variant Polycystic liver disease 2 [RCV000372304] Chr6:107868000 [GRCh38]
Chr6:108189204 [GRCh37]
Chr6:6q21
likely benign|uncertain significance
NM_007214.5(SEC63):c.*3170C>T single nucleotide variant Polycystic liver disease 2 [RCV000320460] Chr6:107868534 [GRCh38]
Chr6:108189738 [GRCh37]
Chr6:6q21
benign|likely benign
NM_007214.5(SEC63):c.*1705G>A single nucleotide variant Polycystic liver disease 2 [RCV000366222] Chr6:107869999 [GRCh38]
Chr6:108191203 [GRCh37]
Chr6:6q21
benign
NM_007214.5(SEC63):c.*514T>C single nucleotide variant Polycystic liver disease 2 [RCV000393609] Chr6:107871190 [GRCh38]
Chr6:108192394 [GRCh37]
Chr6:6q21
uncertain significance
NM_007214.5(SEC63):c.*1108A>G single nucleotide variant Polycystic liver disease 2 [RCV000393622] Chr6:107870596 [GRCh38]
Chr6:108191800 [GRCh37]
Chr6:6q21
likely benign|uncertain significance
NM_007214.5(SEC63):c.*1931dup duplication Polycystic liver disease 1 [RCV000281262] Chr6:107869772..107869773 [GRCh38]
Chr6:108190976..108190977 [GRCh37]
Chr6:6q21
uncertain significance
NM_007214.5(SEC63):c.*2504dup duplication Polycystic liver disease 1 [RCV000267748] Chr6:107869199..107869200 [GRCh38]
Chr6:108190403..108190404 [GRCh37]
Chr6:6q21
benign
NM_007214.5(SEC63):c.1936-4_1936-3insTTT insertion Polycystic liver disease 1 [RCV000287969] Chr6:107876665..107876666 [GRCh38]
Chr6:108197869..108197870 [GRCh37]
Chr6:6q21
uncertain significance
NM_007214.5(SEC63):c.1936-7_1936-5dup duplication Polycystic liver disease 1 [RCV000293420] Chr6:107876666..107876667 [GRCh38]
Chr6:108197870..108197871 [GRCh37]
Chr6:6q21
conflicting interpretations of pathogenicity
NM_007214.5(SEC63):c.*3772G>A single nucleotide variant Polycystic liver disease 2 [RCV000261776] Chr6:107867932 [GRCh38]
Chr6:108189136 [GRCh37]
Chr6:6q21
uncertain significance
NM_007214.5(SEC63):c.*2479dup duplication Polycystic liver disease 1 [RCV000322927] Chr6:107869224..107869225 [GRCh38]
Chr6:108190428..108190429 [GRCh37]
Chr6:6q21
likely benign
NM_007214.5(SEC63):c.*3434A>G single nucleotide variant Polycystic liver disease 2 [RCV000274245] Chr6:107868270 [GRCh38]
Chr6:108189474 [GRCh37]
Chr6:6q21
uncertain significance
NM_007214.5(SEC63):c.1936-7dup duplication Polycystic liver disease 1 [RCV000347576] Chr6:107876666..107876667 [GRCh38]
Chr6:108197870..108197871 [GRCh37]
Chr6:6q21
uncertain significance
NM_007214.5(SEC63):c.1936-7_1936-6dup duplication Polycystic liver disease 1 [RCV000383437] Chr6:107876666..107876667 [GRCh38]
Chr6:108197870..108197871 [GRCh37]
Chr6:6q21
uncertain significance
NM_007214.5(SEC63):c.340-6_340-5dup duplication Polycystic liver disease 1 [RCV000387508] Chr6:107921911..107921912 [GRCh38]
Chr6:108243115..108243116 [GRCh37]
Chr6:6q21
likely benign
NM_007214.5(SEC63):c.1936-27_1936-26dup duplication Polycystic liver disease 1 [RCV000407970] Chr6:107876670..107876671 [GRCh38]
Chr6:108197874..108197875 [GRCh37]
Chr6:6q21
uncertain significance
NM_007214.5(SEC63):c.*1471A>G single nucleotide variant Polycystic liver disease 2 [RCV000278009] Chr6:107870233 [GRCh38]
Chr6:108191437 [GRCh37]
Chr6:6q21
uncertain significance
NM_007214.5(SEC63):c.*1941C>T single nucleotide variant Polycystic liver disease 2 [RCV000329655] Chr6:107869763 [GRCh38]
Chr6:108190967 [GRCh37]
Chr6:6q21
uncertain significance
NM_007214.4(SEC63):c.*3959dupT duplication Polycystic liver disease 1 [RCV000307781] Chr6:107867744..107867745 [GRCh38]
Chr6:108188949 [GRCh37]
Chr6:6q21
benign
NM_007214.5(SEC63):c.*2862A>G single nucleotide variant Polycystic liver disease 2 [RCV000315127] Chr6:107868842 [GRCh38]
Chr6:108190046 [GRCh37]
Chr6:6q21
uncertain significance
NM_007214.5(SEC63):c.*3031dup duplication Polycystic liver disease 1 [RCV000381016] Chr6:107868672..107868673 [GRCh38]
Chr6:108189876..108189877 [GRCh37]
Chr6:6q21
uncertain significance
NM_007214.5(SEC63):c.828+13T>C single nucleotide variant Polycystic liver disease 2 [RCV000381392] Chr6:107906670 [GRCh38]
Chr6:108227874 [GRCh37]
Chr6:6q21
uncertain significance
NM_007214.5(SEC63):c.340-8_340-7del deletion Polycystic liver disease 1 [RCV000293220] Chr6:107921916..107921917 [GRCh38]
Chr6:108243120..108243121 [GRCh37]
Chr6:6q21
uncertain significance
NM_007214.5(SEC63):c.*3480dup duplication Polycystic liver disease 1 [RCV000402695] Chr6:107868223..107868224 [GRCh38]
Chr6:108189427..108189428 [GRCh37]
Chr6:6q21
uncertain significance
NM_007214.5(SEC63):c.*1433T>C single nucleotide variant Polycystic liver disease 2 [RCV000332830] Chr6:107870271 [GRCh38]
Chr6:108191475 [GRCh37]
Chr6:6q21
uncertain significance
NM_007214.5(SEC63):c.225-10T>A single nucleotide variant Polycystic liver disease 2 [RCV000403344] Chr6:107924942 [GRCh38]
Chr6:108246146 [GRCh37]
Chr6:6q21
uncertain significance
NM_007214.5(SEC63):c.*1920_*1921insC insertion Polycystic liver disease 1 [RCV000404338] Chr6:107869783..107869784 [GRCh38]
Chr6:108190987..108190988 [GRCh37]
Chr6:6q21
uncertain significance
NM_007214.5(SEC63):c.*1787_*1789GTT[1] microsatellite Polycystic liver disease 1 [RCV000306822] Chr6:107869912..107869914 [GRCh38]
Chr6:108191116..108191118 [GRCh37]
Chr6:6q21
uncertain significance
NM_007214.5(SEC63):c.*3705T>G single nucleotide variant Polycystic liver disease 1 [RCV000319983] Chr6:107867999 [GRCh38]
Chr6:108189203 [GRCh37]
Chr6:6q21
uncertain significance
NM_007214.5(SEC63):c.*1343G>A single nucleotide variant Polycystic liver disease 2 [RCV000320058] Chr6:107870361 [GRCh38]
Chr6:108191565 [GRCh37]
Chr6:6q21
uncertain significance
NM_007214.5(SEC63):c.1675-15G>C single nucleotide variant Polycystic liver disease 2 [RCV000335622] Chr6:107883161 [GRCh38]
Chr6:108204365 [GRCh37]
Chr6:6q21
uncertain significance
NM_007214.5(SEC63):c.*1932_*1933insA insertion Polycystic liver disease 1 [RCV000335690] Chr6:107869771..107869772 [GRCh38]
Chr6:108190975..108190976 [GRCh37]
Chr6:6q21
uncertain significance
NM_007214.5(SEC63):c.*3800A>G single nucleotide variant Polycystic liver disease 2 [RCV000386601] Chr6:107867904 [GRCh38]
Chr6:108189108 [GRCh37]
Chr6:6q21
uncertain significance
NM_007214.5(SEC63):c.*2833A>C single nucleotide variant Polycystic liver disease 2 [RCV000351212] Chr6:107868871 [GRCh38]
Chr6:108190075 [GRCh37]
Chr6:6q21
uncertain significance
NM_007214.5(SEC63):c.*1932_*1937del deletion Polycystic liver disease 1 [RCV000389046] Chr6:107869767..107869772 [GRCh38]
Chr6:108190971..108190976 [GRCh37]
Chr6:6q21
uncertain significance
NM_007214.5(SEC63):c.1697AAG[2] (p.Glu568del) microsatellite Polycystic liver disease 1 [RCV000313322]|Polycystic liver disease 2 [RCV000002254] Chr6:107883116..107883118 [GRCh38]
Chr6:108204320..108204322 [GRCh37]
Chr6:6q21
pathogenic|likely benign|conflicting interpretations of pathogenicity
NM_007214.5(SEC63):c.*1113T>C single nucleotide variant Polycystic liver disease 2 [RCV000338953] Chr6:107870591 [GRCh38]
Chr6:108191795 [GRCh37]
Chr6:6q21
uncertain significance
NM_007214.5(SEC63):c.340-12dup duplication Polycystic liver disease 1 [RCV000300265] Chr6:107921920..107921921 [GRCh38]
Chr6:108243124..108243125 [GRCh37]
Chr6:6q21
uncertain significance
NM_007214.5(SEC63):c.*2522G>C single nucleotide variant Polycystic liver disease 2 [RCV000358045] Chr6:107869182 [GRCh38]
Chr6:108190386 [GRCh37]
Chr6:6q21
uncertain significance
NM_007214.5(SEC63):c.*3432dup duplication Polycystic liver disease 1 [RCV000313075] Chr6:107868271..107868272 [GRCh38]
Chr6:108189475..108189476 [GRCh37]
Chr6:6q21
uncertain significance
NM_007214.5(SEC63):c.*3032A>G single nucleotide variant Polycystic liver disease 2 [RCV001151759] Chr6:107868672 [GRCh38]
Chr6:108189876 [GRCh37]
Chr6:6q21
uncertain significance
NM_007214.5(SEC63):c.*577C>T single nucleotide variant Polycystic liver disease 2 [RCV001151955] Chr6:107871127 [GRCh38]
Chr6:108192331 [GRCh37]
Chr6:6q21
uncertain significance
NM_007214.5(SEC63):c.*432G>T single nucleotide variant Polycystic liver disease 2 [RCV001151958] Chr6:107871272 [GRCh38]
Chr6:108192476 [GRCh37]
Chr6:6q21
uncertain significance
NM_007214.5(SEC63):c.979A>G (p.Lys327Glu) single nucleotide variant Polycystic liver disease 2 [RCV001152061] Chr6:107904704 [GRCh38]
Chr6:108225908 [GRCh37]
Chr6:6q21
benign
NM_007214.5(SEC63):c.882C>T (p.Thr294=) single nucleotide variant Polycystic liver disease 2 [RCV001152062] Chr6:107906527 [GRCh38]
Chr6:108227731 [GRCh37]
Chr6:6q21
likely benign
NM_007214.5(SEC63):c.*1760T>C single nucleotide variant Polycystic liver disease 2 [RCV001151874] Chr6:107869944 [GRCh38]
Chr6:108191148 [GRCh37]
Chr6:6q21
uncertain significance
NM_007214.5(SEC63):c.*1725G>C single nucleotide variant Polycystic liver disease 2 [RCV001151875] Chr6:107869979 [GRCh38]
Chr6:108191183 [GRCh37]
Chr6:6q21
uncertain significance
NM_007214.5(SEC63):c.*1696G>A single nucleotide variant Polycystic liver disease 2 [RCV001151876] Chr6:107870008 [GRCh38]
Chr6:108191212 [GRCh37]
Chr6:6q21
uncertain significance
GRCh37/hg19 6q21(chr6:107446437-108543388)x3 copy number gain See cases [RCV000446442] Chr6:107446437..108543388 [GRCh37]
Chr6:6q21
uncertain significance
GRCh37/hg19 6q14.3-22.31(chr6:85988428-120548687)x1 copy number loss See cases [RCV000445666] Chr6:85988428..120548687 [GRCh37]
Chr6:6q14.3-22.31
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3 copy number gain See cases [RCV000512067] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27
pathogenic
NM_007214.5(SEC63):c.340-9T>C single nucleotide variant not specified [RCV000454546] Chr6:107921918 [GRCh38]
Chr6:108243122 [GRCh37]
Chr6:6q21
likely benign
NM_007214.5(SEC63):c.340-7T>C single nucleotide variant not specified [RCV000455180] Chr6:107921916 [GRCh38]
Chr6:108243120 [GRCh37]
Chr6:6q21
likely benign
NM_007214.5(SEC63):c.340-8T>C single nucleotide variant not specified [RCV000455758] Chr6:107921917 [GRCh38]
Chr6:108243121 [GRCh37]
Chr6:6q21
likely benign
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482) copy number gain See cases [RCV000510595] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6q16.1-21(chr6:97384446-110247755)x1 copy number loss See cases [RCV000510703] Chr6:97384446..110247755 [GRCh37]
Chr6:6q16.1-21
pathogenic
NM_007214.5(SEC63):c.340-12_340-8del deletion Polycystic liver disease 1 [RCV000624945] Chr6:107921917..107921921 [GRCh38]
Chr6:108243121..108243125 [GRCh37]
Chr6:6q21
benign
NM_007214.5(SEC63):c.514+1G>A single nucleotide variant Polycystic liver disease 2 [RCV000625615] Chr6:107913365 [GRCh38]
Chr6:108234569 [GRCh37]
Chr6:6q21
pathogenic
GRCh37/hg19 6q21(chr6:107662992-108276358)x3 copy number gain See cases [RCV000512331] Chr6:107662992..108276358 [GRCh37]
Chr6:6q21
uncertain significance
GRCh37/hg19 6q16.1-21(chr6:94202605-109878834)x1 copy number loss See cases [RCV000512470] Chr6:94202605..109878834 [GRCh37]
Chr6:6q16.1-21
pathogenic
GRCh37/hg19 6q16.1-22.1(chr6:95549951-116684929)x1 copy number loss not provided [RCV000682693] Chr6:95549951..116684929 [GRCh37]
Chr6:6q16.1-22.1
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3 copy number gain not provided [RCV000745403] Chr6:108666..170980171 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3 copy number gain not provided [RCV000745400] Chr6:60107..171054786 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3 copy number gain not provided [RCV000745404] Chr6:165632..170919470 [GRCh37]
Chr6:6p25.3-q27
pathogenic
NM_007214.5(SEC63):c.1882T>C (p.Leu628=) single nucleotide variant not provided [RCV000900608] Chr6:107881202 [GRCh38]
Chr6:108202406 [GRCh37]
Chr6:6q21
likely benign
NM_007214.5(SEC63):c.1210-6A>T single nucleotide variant not provided [RCV000949510] Chr6:107901523 [GRCh38]
Chr6:108222727 [GRCh37]
Chr6:6q21
likely benign
NM_007214.5(SEC63):c.1936-11_1936-9del deletion not provided [RCV000946965] Chr6:107876671..107876673 [GRCh38]
Chr6:108197875..108197877 [GRCh37]
Chr6:6q21
benign
NM_007214.5(SEC63):c.340-12_340-9del deletion not provided [RCV000948312] Chr6:107921918..107921921 [GRCh38]
Chr6:108243122..108243125 [GRCh37]
Chr6:6q21
benign
NM_007214.5(SEC63):c.340-6_340-4dup duplication not provided [RCV000948311] Chr6:107921911..107921912 [GRCh38]
Chr6:108243115..108243116 [GRCh37]
Chr6:6q21
benign
NM_007214.5(SEC63):c.1120G>A (p.Val374Ile) single nucleotide variant not provided [RCV000904061] Chr6:107902933 [GRCh38]
Chr6:108224137 [GRCh37]
Chr6:6q21
likely benign
NM_007214.5(SEC63):c.806C>T (p.Thr269Met) single nucleotide variant not provided [RCV000788859] Chr6:107906705 [GRCh38]
Chr6:108227909 [GRCh37]
Chr6:6q21
uncertain significance
GRCh37/hg19 6q21(chr6:107925558-108220556)x3 copy number gain not provided [RCV000846219] Chr6:107925558..108220556 [GRCh37]
Chr6:6q21
uncertain significance
NM_007214.5(SEC63):c.*3819A>G single nucleotide variant Polycystic liver disease 2 [RCV001151663] Chr6:107867885 [GRCh38]
Chr6:108189089 [GRCh37]
Chr6:6q21
uncertain significance
NM_007214.5(SEC63):c.*549C>T single nucleotide variant Polycystic liver disease 2 [RCV001151956] Chr6:107871155 [GRCh38]
Chr6:108192359 [GRCh37]
Chr6:6q21
uncertain significance
NM_007214.5(SEC63):c.*2946C>T single nucleotide variant Polycystic liver disease 2 [RCV001151760] Chr6:107868758 [GRCh38]
Chr6:108189962 [GRCh37]
Chr6:6q21
uncertain significance
NM_007214.5(SEC63):c.*432G>A single nucleotide variant Polycystic liver disease 2 [RCV001151959] Chr6:107871272 [GRCh38]
Chr6:108192476 [GRCh37]
Chr6:6q21
uncertain significance
NM_007214.5(SEC63):c.286dup (p.Thr96fs) duplication Polycystic liver disease 2 [RCV001198967] Chr6:107924870..107924871 [GRCh38]
Chr6:108246074..108246075 [GRCh37]
Chr6:6q21
uncertain significance
NM_007214.5(SEC63):c.*936C>T single nucleotide variant Polycystic liver disease 2 [RCV001157426] Chr6:107870768 [GRCh38]
Chr6:108191972 [GRCh37]
Chr6:6q21
uncertain significance
NM_007214.5(SEC63):c.*2379G>C single nucleotide variant Polycystic liver disease 2 [RCV001155649] Chr6:107869325 [GRCh38]
Chr6:108190529 [GRCh37]
Chr6:6q21
uncertain significance
NM_007214.5(SEC63):c.*1178T>G single nucleotide variant Polycystic liver disease 2 [RCV001155724] Chr6:107870526 [GRCh38]
Chr6:108191730 [GRCh37]
Chr6:6q21
benign
NM_007214.5(SEC63):c.1776T>A (p.Gly592=) single nucleotide variant not provided [RCV000977977] Chr6:107883045 [GRCh38]
Chr6:108204249 [GRCh37]
Chr6:6q21
likely benign
NM_007214.5(SEC63):c.1210-7T>A single nucleotide variant not provided [RCV000886020] Chr6:107901524 [GRCh38]
Chr6:108222728 [GRCh37]
Chr6:6q21
likely benign
NM_007214.5(SEC63):c.54C>T (p.Phe18=) single nucleotide variant not provided [RCV000897321] Chr6:107957956 [GRCh38]
Chr6:108279160 [GRCh37]
Chr6:6q21
likely benign
NM_007214.5(SEC63):c.1441-4C>G single nucleotide variant not provided [RCV000968097] Chr6:107893901 [GRCh38]
Chr6:108215105 [GRCh37]
Chr6:6q21
benign
NM_007214.5(SEC63):c.1909C>T (p.Pro637Ser) single nucleotide variant not provided [RCV000932972] Chr6:107881175 [GRCh38]
Chr6:108202379 [GRCh37]
Chr6:6q21
likely benign
NM_007214.5(SEC63):c.*273A>C single nucleotide variant Polycystic liver disease 2 [RCV001153224] Chr6:107871431 [GRCh38]
Chr6:108192635 [GRCh37]
Chr6:6q21
uncertain significance
NM_007214.5(SEC63):c.*3489A>G single nucleotide variant Polycystic liver disease 2 [RCV001154705] Chr6:107868215 [GRCh38]
Chr6:108189419 [GRCh37]
Chr6:6q21
uncertain significance
NM_007214.5(SEC63):c.*2301A>G single nucleotide variant Polycystic liver disease 2 [RCV001155650] Chr6:107869403 [GRCh38]
Chr6:108190607 [GRCh37]
Chr6:6q21
uncertain significance
NM_007214.5(SEC63):c.1936-4C>T single nucleotide variant Polycystic liver disease 2 [RCV001157528] Chr6:107876666 [GRCh38]
Chr6:108197870 [GRCh37]
Chr6:6q21
uncertain significance
NM_007214.5(SEC63):c.1441-9G>T single nucleotide variant Polycystic liver disease 2 [RCV001157529] Chr6:107893906 [GRCh38]
Chr6:108215110 [GRCh37]
Chr6:6q21
uncertain significance
NM_007214.5(SEC63):c.1441-10C>T single nucleotide variant Polycystic liver disease 2 [RCV001157530] Chr6:107893907 [GRCh38]
Chr6:108215111 [GRCh37]
Chr6:6q21
uncertain significance
NM_007214.5(SEC63):c.*2704A>G single nucleotide variant Polycystic liver disease 2 [RCV001153000] Chr6:107869000 [GRCh38]
Chr6:108190204 [GRCh37]
Chr6:6q21
uncertain significance
NM_007214.5(SEC63):c.*2287G>T single nucleotide variant Polycystic liver disease 2 [RCV001155651] Chr6:107869417 [GRCh38]
Chr6:108190621 [GRCh37]
Chr6:6q21
uncertain significance
NM_007214.5(SEC63):c.*1931A>C single nucleotide variant Polycystic liver disease 2 [RCV001157318] Chr6:107869773 [GRCh38]
Chr6:108190977 [GRCh37]
Chr6:6q21
uncertain significance
NM_007214.5(SEC63):c.*1037A>G single nucleotide variant Polycystic liver disease 2 [RCV001157425] Chr6:107870667 [GRCh38]
Chr6:108191871 [GRCh37]
Chr6:6q21
uncertain significance
NM_007214.5(SEC63):c.*2131C>T single nucleotide variant Polycystic liver disease 2 [RCV001157316] Chr6:107869573 [GRCh38]
Chr6:108190777 [GRCh37]
Chr6:6q21
uncertain significance
NM_007214.5(SEC63):c.*1061G>A single nucleotide variant Polycystic liver disease 2 [RCV001157424] Chr6:107870643 [GRCh38]
Chr6:108191847 [GRCh37]
Chr6:6q21
uncertain significance
NM_007214.5(SEC63):c.*874A>G single nucleotide variant Polycystic liver disease 2 [RCV001157427] Chr6:107870830 [GRCh38]
Chr6:108192034 [GRCh37]
Chr6:6q21
uncertain significance
NM_007214.5(SEC63):c.*2783G>A single nucleotide variant Polycystic liver disease 2 [RCV001152999] Chr6:107868921 [GRCh38]
Chr6:108190125 [GRCh37]
Chr6:6q21
uncertain significance
NM_007214.5(SEC63):c.*1655G>A single nucleotide variant Polycystic liver disease 2 [RCV001153112] Chr6:107870049 [GRCh38]
Chr6:108191253 [GRCh37]
Chr6:6q21
uncertain significance
NM_007214.5(SEC63):c.452C>T (p.Ala151Val) single nucleotide variant Polycystic liver disease 2 [RCV001153326] Chr6:107921797 [GRCh38]
Chr6:108243001 [GRCh37]
Chr6:6q21
uncertain significance
NM_007214.5(SEC63):c.*3456T>C single nucleotide variant Polycystic liver disease 2 [RCV001154706] Chr6:107868248 [GRCh38]
Chr6:108189452 [GRCh37]
Chr6:6q21
uncertain significance
NM_007214.5(SEC63):c.*3390G>A single nucleotide variant Polycystic liver disease 2 [RCV001155536] Chr6:107868314 [GRCh38]
Chr6:108189518 [GRCh37]
Chr6:6q21
benign
NM_007214.5(SEC63):c.*1832A>G single nucleotide variant Polycystic liver disease 2 [RCV001151873] Chr6:107869872 [GRCh38]
Chr6:108191076 [GRCh37]
Chr6:6q21
uncertain significance
NM_007214.5(SEC63):c.*2791T>C single nucleotide variant Polycystic liver disease 2 [RCV001151761] Chr6:107868913 [GRCh38]
Chr6:108190117 [GRCh37]
Chr6:6q21
uncertain significance
NM_007214.5(SEC63):c.*437A>G single nucleotide variant Polycystic liver disease 2 [RCV001151957] Chr6:107871267 [GRCh38]
Chr6:108192471 [GRCh37]
Chr6:6q21
uncertain significance
NM_007214.5(SEC63):c.*3430A>G single nucleotide variant Polycystic liver disease 2 [RCV001155535] Chr6:107868274 [GRCh38]
Chr6:108189478 [GRCh37]
Chr6:6q21
uncertain significance
NM_007214.5(SEC63):c.*1420T>G single nucleotide variant Polycystic liver disease 2 [RCV001155723] Chr6:107870284 [GRCh38]
Chr6:108191488 [GRCh37]
Chr6:6q21
uncertain significance
NM_007214.5(SEC63):c.*24T>C single nucleotide variant Polycystic liver disease 2 [RCV001155821] Chr6:107871680 [GRCh38]
Chr6:108192884 [GRCh37]
Chr6:6q21
uncertain significance
NM_007214.5(SEC63):c.1984A>G (p.Thr662Ala) single nucleotide variant Polycystic liver disease 2 [RCV001155823] Chr6:107876614 [GRCh38]
Chr6:108197818 [GRCh37]
Chr6:6q21
benign
NM_007214.5(SEC63):c.-148T>G single nucleotide variant Polycystic liver disease 2 [RCV001153328] Chr6:107958157 [GRCh38]
Chr6:108279361 [GRCh37]
Chr6:6q21
uncertain significance
NM_007214.5(SEC63):c.*3133C>A single nucleotide variant Polycystic liver disease 2 [RCV001157223] Chr6:107868571 [GRCh38]
Chr6:108189775 [GRCh37]
Chr6:6q21
uncertain significance
NM_007214.5(SEC63):c.*3116T>C single nucleotide variant Polycystic liver disease 2 [RCV001157224] Chr6:107868588 [GRCh38]
Chr6:108189792 [GRCh37]
Chr6:6q21
uncertain significance
NM_007214.5(SEC63):c.*2041A>G single nucleotide variant Polycystic liver disease 2 [RCV001157317] Chr6:107869663 [GRCh38]
Chr6:108190867 [GRCh37]
Chr6:6q21
uncertain significance
NM_007214.5(SEC63):c.*1650G>A single nucleotide variant Polycystic liver disease 2 [RCV001153113] Chr6:107870054 [GRCh38]
Chr6:108191258 [GRCh37]
Chr6:6q21
uncertain significance
NM_007214.5(SEC63):c.*1568G>A single nucleotide variant Polycystic liver disease 2 [RCV001153114] Chr6:107870136 [GRCh38]
Chr6:108191340 [GRCh37]
Chr6:6q21
uncertain significance
NM_007214.5(SEC63):c.374G>A (p.Arg125His) single nucleotide variant Polycystic liver disease 2 [RCV001153327] Chr6:107921875 [GRCh38]
Chr6:108243079 [GRCh37]
Chr6:6q21
uncertain significance
NM_007214.5(SEC63):c.2025T>A (p.Asp675Glu) single nucleotide variant Polycystic liver disease 2 [RCV001155822] Chr6:107876573 [GRCh38]
Chr6:108197777 [GRCh37]
Chr6:6q21
benign
NM_007214.5(SEC63):c.*2465C>T single nucleotide variant Polycystic liver disease 2 [RCV001155648] Chr6:107869239 [GRCh38]
Chr6:108190443 [GRCh37]
Chr6:6q21
uncertain significance
NM_007214.5(SEC63):c.*2618C>A single nucleotide variant Polycystic liver disease 2 [RCV001153001] Chr6:107869086 [GRCh38]
Chr6:108190290 [GRCh37]
Chr6:6q21
uncertain significance
NM_007214.5(SEC63):c.*1475C>T single nucleotide variant Polycystic liver disease 2 [RCV001153115] Chr6:107870229 [GRCh38]
Chr6:108191433 [GRCh37]
Chr6:6q21
uncertain significance
NM_007214.5(SEC63):c.*1071G>C single nucleotide variant Polycystic liver disease 2 [RCV001157423] Chr6:107870633 [GRCh38]
Chr6:108191837 [GRCh37]
Chr6:6q21
uncertain significance
GRCh37/hg19 6q16.3-22.1(chr6:101296547-117004249)x3 copy number gain Microcephaly [RCV001251053] Chr6:101296547..117004249 [GRCh37]
Chr6:6q16.3-22.1
pathogenic
NM_007214.5(SEC63):c.1586dup (p.Lys530fs) duplication Polycystic liver disease 2 [RCV001328603] Chr6:107893569..107893570 [GRCh38]
Chr6:108214773..108214774 [GRCh37]
Chr6:6q21
pathogenic
GRCh37/hg19 6q16.1-21(chr6:98949950-114533905)x1 copy number loss Deletion 6q16 q21 [RCV001263224] Chr6:98949950..114533905 [GRCh37]
Chr6:6q16.1-21
pathogenic
NM_007214.5(SEC63):c.1023C>A (p.Cys341Ter) single nucleotide variant Polycystic liver disease 2 [RCV001353245] Chr6:107904660 [GRCh38]
Chr6:108225864 [GRCh37]
Chr6:6q21
pathogenic
NM_007214.5(SEC63):c.1124A>G (p.Gln375Arg) single nucleotide variant Polycystic liver disease 2 [RCV001280819] Chr6:107902929 [GRCh38]
Chr6:108224133 [GRCh37]
Chr6:6q21
likely pathogenic
NM_007214.5(SEC63):c.1936-8G>T single nucleotide variant Autosomal dominant medullary cystic kidney disease with or without hyperuricemia [RCV001328095] Chr6:107876670 [GRCh38]
Chr6:108197874 [GRCh37]
Chr6:6q21
uncertain significance
NM_007214.5(SEC63):c.174G>A (p.Trp58Ter) single nucleotide variant not provided [RCV001380587] Chr6:107929465 [GRCh38]
Chr6:108250669 [GRCh37]
Chr6:6q21
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:21082 AgrOrtholog
COSMIC SEC63 COSMIC
Ensembl Genes ENSG00000025796 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000357998 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000403144 UniProtKB/TrEMBL
  ENSP00000410968 UniProtKB/TrEMBL
Ensembl Transcript ENST00000369002 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000429168 UniProtKB/TrEMBL
  ENST00000446496 UniProtKB/TrEMBL
Gene3D-CATH 1.10.287.110 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.60.40.150 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000025796 GTEx
HGNC ID HGNC:21082 ENTREZGENE
Human Proteome Map SEC63 Human Proteome Map
InterPro C2_domain_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DnaJ_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig_E-set UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  J_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sec63 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sec63-dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:11231 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 11231 ENTREZGENE
OMIM 608648 OMIM
  617004 OMIM
PANTHER PTHR24075:SF0 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam DnaJ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sec63 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134936990 PharmGKB
PRINTS JDOMAIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE DNAJ_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART DnaJ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sec63 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF46565 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF81296 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0S2Z518_HUMAN UniProtKB/TrEMBL
  A0A0S2Z5M1 ENTREZGENE, UniProtKB/TrEMBL
  A6PVC9_HUMAN UniProtKB/TrEMBL
  F8WB27_HUMAN UniProtKB/TrEMBL
  Q9UGP8 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary O95380 UniProtKB/Swiss-Prot
  Q5THN4 UniProtKB/Swiss-Prot
  Q86VS9 UniProtKB/Swiss-Prot
  Q8IWL0 UniProtKB/Swiss-Prot
  Q9NTE0 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-08-04 SEC63  SEC63 homolog, protein translocation regulator    SEC63 homolog (S. cerevisiae)  Symbol and/or name change 5135510 APPROVED
2011-08-17 SEC63  SEC63 homolog (S. cerevisiae)  SEC63  SEC63 homolog (S. cerevisiae)  Symbol and/or name change 5135510 APPROVED