DBT (dihydrolipoamide branched chain transacylase E2) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: DBT (dihydrolipoamide branched chain transacylase E2) Homo sapiens
Analyze
Symbol: DBT
Name: dihydrolipoamide branched chain transacylase E2
RGD ID: 68592
HGNC Page HGNC
Description: Exhibits ubiquitin protein ligase binding activity. Predicted to be involved in branched-chain amino acid catabolic process. Localizes to cytosol; microtubule cytoskeleton; and mitochondrial nucleoid. Implicated in maple syrup urine disease.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: 52 kDa mitochondrial autoantigen of primary biliary cirrhosis; BCATE2; BCKAD E2 subunit; BCKAD-E2; BCKADE2; BCKDH-E2; BCOADC-E2; branched chain 2-oxo-acid dehydrogenase complex component E2; branched chain acyltransferase, E2 component; branched-chain alpha-keto acid dehydrogenase complex component E2; dihydrolipoamide acetyltransferase component of branched-chain alpha-keto acid dehydrogenase complex; dihydrolipoyl transacylase; dihydrolipoyllysine-residue (2-methylpropanoyl)transferase; E2; E2 component of branched chain alpha-keto acid dehydrogenase complex; E2B; lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial; lipoamide acyltransferase component of mitochondrial branched-chain alpha-keto acid dehydrogenase complex; MGC9061; mitochondrial branched chain alpha-keto acid dehydrogenase transacylase subunit (E2b)
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1100,186,919 - 100,249,834 (-)EnsemblGRCh38hg38GRCh38
GRCh381100,186,919 - 100,249,864 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371100,652,475 - 100,715,390 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361100,425,066 - 100,487,997 (-)NCBINCBI36hg18NCBI36
Build 341100,371,756 - 100,427,411NCBI
Celera198,909,336 - 98,972,208 (-)NCBI
Cytogenetic Map1p21.2NCBI
HuRef198,775,207 - 98,838,837 (-)NCBIHuRef
CHM1_11100,768,800 - 100,831,605 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

References

Additional References at PubMed
PMID:1420314   PMID:1429740   PMID:1847055   PMID:1889817   PMID:1943690   PMID:1990841   PMID:2001734   PMID:2010537   PMID:2708389   PMID:2742576   PMID:2837277   PMID:2932110  
PMID:3189339   PMID:3245861   PMID:6895847   PMID:7672509   PMID:7918575   PMID:8430702   PMID:9621512   PMID:11448970   PMID:11509994   PMID:11839747   PMID:12477932   PMID:14768949  
PMID:15489334   PMID:16159877   PMID:16344560   PMID:16861235   PMID:17353931   PMID:17922217   PMID:18029348   PMID:18063578   PMID:18378174   PMID:18533943   PMID:19167051   PMID:19480318  
PMID:19615732   PMID:19725078   PMID:20301495   PMID:20570198   PMID:20877624   PMID:21532586   PMID:21642987   PMID:21873635   PMID:22939629   PMID:23313820   PMID:24244333   PMID:24268812  
PMID:24344204   PMID:25147182   PMID:25281560   PMID:25865307   PMID:26186194   PMID:26217791   PMID:26344197   PMID:26496610   PMID:26549023   PMID:26638075   PMID:26643866   PMID:27342126  
PMID:27499296   PMID:27684187   PMID:27880917   PMID:28330616   PMID:28514442   PMID:28533407   PMID:28611094   PMID:28718761   PMID:29229926   PMID:29467281   PMID:29509190   PMID:29511261  
PMID:29802200   PMID:30021884   PMID:30196744   PMID:30455355   PMID:30463901   PMID:30652415   PMID:30940648   PMID:30948266   PMID:30997501   PMID:31452512   PMID:31519766   PMID:31753913  
PMID:31792442   PMID:32129710   PMID:32877691  


Genomics

Comparative Map Data
DBT
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1100,186,919 - 100,249,834 (-)EnsemblGRCh38hg38GRCh38
GRCh381100,186,919 - 100,249,864 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371100,652,475 - 100,715,390 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361100,425,066 - 100,487,997 (-)NCBINCBI36hg18NCBI36
Build 341100,371,756 - 100,427,411NCBI
Celera198,909,336 - 98,972,208 (-)NCBI
Cytogenetic Map1p21.2NCBI
HuRef198,775,207 - 98,838,837 (-)NCBIHuRef
CHM1_11100,768,800 - 100,831,605 (-)NCBICHM1_1
Dbt
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm393116,306,719 - 116,343,630 (+)NCBIGRCm39mm39
GRCm39 Ensembl3116,306,719 - 116,343,630 (+)Ensembl
GRCm383116,513,070 - 116,549,981 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl3116,513,070 - 116,549,981 (+)EnsemblGRCm38mm10GRCm38
MGSCv373116,215,997 - 116,252,899 (+)NCBIGRCm37mm9NCBIm37
MGSCv363116,505,145 - 116,541,403 (+)NCBImm8
Celera3122,940,011 - 122,977,028 (+)NCBICelera
Cytogenetic Map3G1NCBI
cM Map350.37NCBI
Dbt
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.22204,481,744 - 204,510,612 (+)NCBI
Rnor_6.0 Ensembl2219,563,783 - 219,592,650 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.02219,563,783 - 219,592,651 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.02237,625,211 - 237,654,081 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42212,759,312 - 212,788,180 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.12212,731,165 - 212,742,429 (+)NCBI
Celera2196,974,438 - 197,002,611 (+)NCBICelera
Cytogenetic Map2q41NCBI
Dbt
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554354,973,830 - 5,017,816 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554354,975,664 - 5,005,126 (-)NCBIChiLan1.0ChiLan1.0
DBT
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11101,566,152 - 101,621,850 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1101,567,551 - 101,621,850 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01102,852,585 - 102,907,146 (-)NCBIMhudiblu_PPA_v0panPan3
DBT
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1649,753,233 - 49,805,493 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl649,753,323 - 49,805,882 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha652,424,469 - 52,476,285 (+)NCBI
ROS_Cfam_1.0650,100,981 - 50,152,844 (+)NCBI
UMICH_Zoey_3.1649,792,722 - 49,844,579 (+)NCBI
UNSW_CanFamBas_1.0649,771,509 - 49,823,578 (+)NCBI
UU_Cfam_GSD_1.0650,201,398 - 50,255,118 (+)NCBI
Dbt
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405058110,537,454 - 110,580,910 (-)NCBI
SpeTri2.0NW_004936748342,655 - 386,017 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
DBT
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl4117,875,002 - 117,937,561 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.14117,884,657 - 117,924,006 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.24129,512,220 - 129,548,961 (+)NCBISscrofa10.2Sscrofa10.2susScr3
DBT
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12033,088,452 - 33,157,693 (+)NCBI
ChlSab1.1 Ensembl2033,088,496 - 33,140,403 (+)Ensembl
Dbt
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248573,056,799 - 3,138,430 (-)NCBI

Position Markers
SHGC-75206  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371100,652,492 - 100,652,619UniSTSGRCh37
Build 361100,425,080 - 100,425,207RGDNCBI36
Celera198,909,350 - 98,909,477RGD
Cytogenetic Map1p31UniSTS
HuRef198,775,221 - 98,775,348UniSTS
TNG Radiation Hybrid Map154938.0UniSTS
GeneMap99-GB4 RH Map1293.82UniSTS
GeneMap99-GB4 RH Map1289.28UniSTS
Whitehead-RH Map1310.7UniSTS
NCBI RH Map1705.9UniSTS
RH39768  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371100,676,269 - 100,676,501UniSTSGRCh37
Build 361100,448,857 - 100,449,089RGDNCBI36
Celera198,933,113 - 98,933,345RGD
Cytogenetic Map1p31UniSTS
HuRef198,798,942 - 98,799,174UniSTS
RH39750  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371100,661,538 - 100,661,766UniSTSGRCh37
Build 361100,434,126 - 100,434,354RGDNCBI36
Celera198,918,395 - 98,918,623RGD
Cytogenetic Map1p31UniSTS
HuRef198,784,225 - 98,784,453UniSTS
SGC31939  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371100,679,374 - 100,679,479UniSTSGRCh37
GRCh37797,920,702 - 97,920,807UniSTSGRCh37
Build 361100,451,962 - 100,452,067RGDNCBI36
Celera198,936,218 - 98,936,323RGD
Celera792,614,604 - 92,614,709UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map7q21.3UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map7q22.1UniSTS
HuRef792,521,091 - 92,521,196UniSTS
HuRef198,802,047 - 98,802,152UniSTS
CRA_TCAGchr7v2797,245,568 - 97,245,673UniSTS
Whitehead-RH Map7470.6UniSTS
SHGC-35260  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371100,661,534 - 100,661,758UniSTSGRCh37
Build 361100,434,122 - 100,434,346RGDNCBI36
Celera198,918,391 - 98,918,615RGD
Cytogenetic Map1p31UniSTS
HuRef198,784,221 - 98,784,445UniSTS
TNG Radiation Hybrid Map154935.0UniSTS
GeneMap99-GB4 RH Map1292.7UniSTS
Whitehead-RH Map1305.4UniSTS
NCBI RH Map1679.5UniSTS
D1S3592  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371100,680,693 - 100,680,829UniSTSGRCh37
Build 361100,453,281 - 100,453,417RGDNCBI36
Celera198,937,538 - 98,937,674RGD
Cytogenetic Map1p31UniSTS
HuRef198,803,367 - 98,803,503UniSTS
TNG Radiation Hybrid Map154920.0UniSTS
GeneMap99-GB4 RH Map1291.75UniSTS
GDB:434012  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map4q32.2UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map19q13.13UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map2q31.2-q33.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map5q21UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map9q13-q21UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map17q24UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map17q25.2UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map7q21.3UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map1p21.3-p13.1UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map1p35-p34.3UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map12p13.1UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic MapXp11.22UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map1q31-q41UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map6q22-q23UniSTS
Cytogenetic Map1q24-q25.3UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map8q24.22UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map1pter-q31.3UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map16p13UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map10p11.1UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map2q11.2-q12UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3p21.32UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map7p13-p12UniSTS
Cytogenetic Map1p36-p35UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map12q23UniSTS
Cytogenetic Map4q13UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic MapXq21.3UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map6p12.3-p11.2UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map4p16UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic MapXp22.11UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map12q13.1-q13.2UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map6pter-p12.1UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map5q13.1UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map14q31UniSTS
L18441  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map5q31UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map9p13.3-p12UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map1p32UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map2p13UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map10q11.2UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map13q12.3UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map15q24-q25UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map16q24UniSTS
L17709  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map19q13.13UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map1p35-p34.3UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map9p12UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map1p36.12UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map4p15.31UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map3p24UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map3q27UniSTS
L17971  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map1q21UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map1q42.11UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map4q21.23UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map3p25UniSTS
Cytogenetic Map9q21.32UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic MapXq22UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map1p21.3UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic MapXq21.1UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map18q21.31UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map7q22.3UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map18q12.2UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map20p11.1UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map9q34.13UniSTS
D1S1361  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic MapXq21.1UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map6p21.1-p12.1UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map5q21UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map10q24UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map5q22.2UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map17q21UniSTS
D1S1423  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map10p12.1-p11.2UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map6p22.3-p21.32UniSTS
Cytogenetic Map6q22.33UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map7q11.2UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map2q32UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map9q12UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map18q22.1UniSTS
Cytogenetic Map13q12UniSTS
Cytogenetic Map10p14-p13UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map11q23-q24UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map22cen-q12.3UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map15q11.2-q21.3UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map3q25UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map4q28UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map1q41-q42UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map12p13.1-p12.3UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map1p13.1UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map7q33UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map11q24.1UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map3q13UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map7p21.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map1p34-p33UniSTS
Cytogenetic Map3q22.1UniSTS
Cytogenetic Map7p14UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map12q24.2UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map8p23-p22UniSTS
Cytogenetic Map1p12UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map10p12.33UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map3q26UniSTS
Cytogenetic Map9p21.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map5q21.3UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map3q26.31UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic MapXq27.2UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map4q31UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map10q24.3UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map2p13UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map11q22.1UniSTS
Cytogenetic Map12q14.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map20q11.21-q11.23UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map21p11.1UniSTS
Cytogenetic Map1p35-p34.3UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map12q24.31-q24.32UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map14q32.1UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map4q31.23UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map2p22.3UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map9p12UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map13q33.3UniSTS
Cytogenetic Map15q22-q24UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map4p15.31UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map15q22.1-q22.31UniSTS
Cytogenetic Map1q31-q41UniSTS
Cytogenetic Map6q23.3UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map12q11-q12UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map4q24UniSTS
Cytogenetic Map1p32UniSTS
Cytogenetic Map3p21.1-p14.2UniSTS
Cytogenetic Map12q22-q23.1UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map6q24.2UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map10pter-q25.3UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic Map3q28-q29UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map1q32.2-q41UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map22q11UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map11q13.1-q13.3UniSTS
Cytogenetic Map16p13UniSTS
Cytogenetic Map15q26UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map4p15.1-p14UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map5q33.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map7q32.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map15q25.1UniSTS
Cytogenetic Map9p13UniSTS
Cytogenetic Map2p24.2UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map6p24-p22.3UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map3q21-q24UniSTS
Cytogenetic Map4q13UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map5q21.2UniSTS
Cytogenetic Map4q34.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map13q13.3UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map1q31UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map8q24.12UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map13q11-q12UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map6q25.2UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map3q23-q24UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map20pter-p12UniSTS
Cytogenetic MapXp22.11UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map7p14.2UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map18p11.22UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map14q22.2UniSTS
Cytogenetic Map20p11.22-p11.1UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map11q12-q13UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map6p22-p21UniSTS
Cytogenetic Map17q21.1-q21.3UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map4p15.32UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map12p13.2-p12.3UniSTS
Cytogenetic Map9q22.32UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map5q22.2UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map4p15.3UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map12q13.1-q13.2UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map9p22.3UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map6q22.32UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map18q12.2UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map13q33.1UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map5q12.1UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map10q22.3-q23.2UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map4q21.3UniSTS
Cytogenetic Map7p13-p12UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map3q12.1UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map2p13.2UniSTS
Cytogenetic Map3p12.3UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map3q11.2UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map6p24.2UniSTS
Cytogenetic Map20q13.33UniSTS
D11S2921  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map10q24.33UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map13q12UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map12q21.33UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic MapXp11.4-p11.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map1q24.1UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map18pter-p11.3UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map2q21.3UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map4q34.1UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map7q21.12UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map6p22UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map7p21.2UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic Map8p23-p22UniSTS
Cytogenetic Map12p11UniSTS
Cytogenetic Map17q21-q22UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map11p13-p12UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map2q12.1UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map5q12-q13UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map12q13-q14UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map15q15-q21.1UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map11q22.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map21p11.1UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map6q15UniSTS
Cytogenetic MapXq25-q26.3UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map12q24.31-q24.32UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map12p12.2-p11.2UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic MapXp11UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map18p11.32UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map9p24.1-p23UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic MapXq12-q13UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map1q42.1-q43UniSTS
Cytogenetic Map7q31.1-q31.3UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map20q12-q13.12UniSTS
Cytogenetic Map1q24-q25.3UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map6q25.1-q26UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic Map12p11.22UniSTS
Cytogenetic Map17q23.1UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map9p11UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map11p11.11UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map15q22-q23UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map15q22-qterUniSTS
Cytogenetic Map10q25UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map5p15.1UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map2q23.3UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map2q21.2UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map19p13.2-cenUniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic Map9q33UniSTS
Cytogenetic Map1p36-p35UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map12q23UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map7q31.1-q31.2UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map4q25-q27UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic MapXq26.2UniSTS
Cytogenetic Map8q13.2UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map5q23.1UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map3p26.1UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic MapXq21.3UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map5p13.1-p12UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map6q14.3-q16.1UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map6q14.3UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map13q12.2UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map17q21.1-q21.3UniSTS
Cytogenetic Map6q11.1UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map9q32-q33.3UniSTS
Cytogenetic Map8q21.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map12p13.2-p12.3UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map10q24-q25UniSTS
Cytogenetic Map7p11.1UniSTS
Cytogenetic Map14q11.2-q21UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map2p24.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map5p14.3UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map9p13.1UniSTS
Cytogenetic Map9q34.13UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3186
Count of miRNA genes:1112
Interacting mature miRNAs:1369
Transcripts:ENST00000370131, ENST00000370132
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 322 216 178 89 363 90 564 229 260 156 282 211 10 1 8 336 3 2
Low 2117 2435 1548 535 1266 375 3793 1950 3473 262 1178 1400 165 1196 2452 3
Below cutoff 340 322 18 1 1 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_011852 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001918 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005270545 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017000468 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017000469 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_946560 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AK024946 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303941 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313191 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL445928 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC016675 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC030002 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT007372 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471097 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA274670 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  J03208 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M19301 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M27093 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X57676 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X57677 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X66785 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X68104 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000370131   ⟹   ENSP00000359150
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1100,210,543 - 100,249,820 (-)Ensembl
RefSeq Acc Id: ENST00000370132   ⟹   ENSP00000359151
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1100,186,919 - 100,249,834 (-)Ensembl
RefSeq Acc Id: ENST00000681617   ⟹   ENSP00000505544
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1100,195,670 - 100,249,823 (-)Ensembl
RefSeq Acc Id: ENST00000681780   ⟹   ENSP00000505780
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1100,195,971 - 100,249,833 (-)Ensembl
RefSeq Acc Id: NM_001918   ⟹   NP_001909
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381100,186,919 - 100,249,834 (-)NCBI
GRCh371100,652,478 - 100,715,409 (-)ENTREZGENE
GRCh371100,652,478 - 100,715,409 (-)NCBI
Build 361100,425,066 - 100,487,997 (-)NCBI Archive
HuRef198,775,207 - 98,838,837 (-)ENTREZGENE
CHM1_11100,768,800 - 100,831,605 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005270545   ⟹   XP_005270602
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381100,193,920 - 100,249,864 (-)NCBI
GRCh371100,652,478 - 100,715,409 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017000468   ⟹   XP_016855957
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381100,193,920 - 100,249,833 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017000469   ⟹   XP_016855958
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381100,193,920 - 100,240,805 (-)NCBI
Sequence:
RefSeq Acc Id: XR_946560
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381100,210,707 - 100,249,837 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001909   ⟸   NM_001918
- Peptide Label: precursor
- Sequence:
RefSeq Acc Id: XP_005270602   ⟸   XM_005270545
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016855957   ⟸   XM_017000468
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016855958   ⟸   XM_017000469
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000359150   ⟸   ENST00000370131
RefSeq Acc Id: ENSP00000359151   ⟸   ENST00000370132
RefSeq Acc Id: ENSP00000505544   ⟸   ENST00000681617
RefSeq Acc Id: ENSP00000505780   ⟸   ENST00000681780
Promoters
RGD ID:6856360
Promoter ID:EPDNEW_H1345
Type:multiple initiation site
Name:DBT_1
Description:dihydrolipoamide branched chain transacylase E2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H1346  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381100,249,834 - 100,249,894EPDNEW
RGD ID:6785243
Promoter ID:HG_KWN:3817
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000370131,   NM_001918
Position:
Human AssemblyChrPosition (strand)Source
Build 361100,487,689 - 100,488,189 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NC_000001.11:g.(?_100196235)_(100196442_?)del deletion Maple syrup urine disease [RCV000525366] Chr1:100196235..100196442 [GRCh38]
Chr1:100661791..100661998 [GRCh37]
Chr1:1p21.2
pathogenic
NM_001918.3:c.48_171del deletion Maple syrup urine disease type 2 [RCV000012720] Chr1:1p31 pathogenic
NM_001918.3(DBT):c.434_435insAATACCTTGTTACCAGA insertion Maple syrup urine disease, thiamine-responsive, type II [RCV000012722] Chr1:1p31 pathogenic
NM_001918.4(DBT):c.1017+1del deletion Maple syrup urine disease type 2 [RCV000012723] Chr1:100210693 [GRCh38]
Chr1:100676249 [GRCh37]
Chr1:1p21.2
pathogenic
NM_001918.5(DBT):c.1018-550A>G single nucleotide variant Intermediate maple syrup urine disease type 2 [RCV000012724]|Maple syrup urine disease [RCV000668558] Chr1:100207186 [GRCh38]
Chr1:100672742 [GRCh37]
Chr1:1p21.2
pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001918.4(DBT):c.75_76del (p.Cys26fs) deletion Maple syrup urine disease [RCV000626239]|Maple syrup urine disease type 2 [RCV000012728] Chr1:100240860..100240861 [GRCh38]
Chr1:100706416..100706417 [GRCh37]
Chr1:1p21.2
pathogenic|likely pathogenic
NM_001918.3(DBT):c.1282-4142_*(434_435)del deletion Maple syrup urine disease type 2 [RCV000012729] Chr1:100195821..100200563 [GRCh38]
Chr1:100661377..100666119 [GRCh37]
Chr1:1p31
pathogenic
NM_001918.4(DBT):c.827T>G (p.Phe276Cys) single nucleotide variant Maple syrup urine disease [RCV000179835]|Maple syrup urine disease, thiamine-responsive, type II [RCV000012721]|not provided [RCV000079957] Chr1:100214929 [GRCh38]
Chr1:100680485 [GRCh37]
Chr1:1p21.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_001918.4(DBT):c.1448G>T (p.Ter483Leu) single nucleotide variant Intermediate maple syrup urine disease type 2 [RCV000012725] Chr1:100196256 [GRCh38]
Chr1:100661812 [GRCh37]
Chr1:1p21.2
pathogenic
NM_001918.4(DBT):c.294C>G (p.Ile98Met) single nucleotide variant Intermediate maple syrup urine disease type 2 [RCV000012726] Chr1:100230872 [GRCh38]
Chr1:100696428 [GRCh37]
Chr1:1p21.2
pathogenic
NM_001918.4(DBT):c.1150G>A (p.Gly384Ser) single nucleotide variant Intermediate maple syrup urine disease type 2 [RCV000012727]|Maple syrup urine disease [RCV000532824] Chr1:100206504 [GRCh38]
Chr1:100672060 [GRCh37]
Chr1:1p21.2
pathogenic|benign
NM_001918.4(DBT):c.1355A>G (p.His452Arg) single nucleotide variant Maple syrup urine disease, thiamine-responsive, type II [RCV000012730] Chr1:100196349 [GRCh38]
Chr1:100661905 [GRCh37]
Chr1:1p21.2
pathogenic
NM_001918.4(DBT):c.581C>G (p.Ser194Ter) single nucleotide variant Maple syrup urine disease type 2 [RCV000012731] Chr1:100216174 [GRCh38]
Chr1:100681730 [GRCh37]
Chr1:1p21.2
pathogenic
GRCh38/hg38 1p31.1-13.3(chr1:72661709-107456880)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051825]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051825]|See cases [RCV000051825] Chr1:72661709..107456880 [GRCh38]
Chr1:73127392..107999502 [GRCh37]
Chr1:72899980..107801025 [NCBI36]
Chr1:1p31.1-13.3
pathogenic
GRCh38/hg38 1p21.3-13.3(chr1:98557000-107949047)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053878]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053878]|See cases [RCV000053878] Chr1:98557000..107949047 [GRCh38]
Chr1:99022556..108491669 [GRCh37]
Chr1:98795144..108293192 [NCBI36]
Chr1:1p21.3-13.3
pathogenic
GRCh38/hg38 1p21.3-13.3(chr1:97410602-110670510)x1 copy number loss See cases [RCV000053877] Chr1:97410602..110670510 [GRCh38]
Chr1:97876158..111213132 [GRCh37]
Chr1:97648746..111014655 [NCBI36]
Chr1:1p21.3-13.3
pathogenic
NM_001918.4(DBT):c.1024C>G (p.His342Asp) single nucleotide variant not provided [RCV000079922] Chr1:100206630 [GRCh38]
Chr1:100672186 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.1096T>C (p.Ser366Pro) single nucleotide variant not provided [RCV000079923] Chr1:100206558 [GRCh38]
Chr1:100672114 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.1127G>A (p.Arg376His) single nucleotide variant Maple syrup urine disease [RCV000272096]|not provided [RCV000079924] Chr1:100206527 [GRCh38]
Chr1:100672083 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.1133A>C (p.Gln378Pro) single nucleotide variant not provided [RCV000079925] Chr1:100206521 [GRCh38]
Chr1:100672077 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.1133A>G (p.Gln378Arg) single nucleotide variant not provided [RCV000591548] Chr1:100206521 [GRCh38]
Chr1:100672077 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.1210-10T>A single nucleotide variant Maple syrup urine disease [RCV000307134]|not specified [RCV000079927] Chr1:100206311 [GRCh38]
Chr1:100671867 [GRCh37]
Chr1:1p21.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_001918.3(DBT):c.1210-22delT deletion AllHighlyPenetrant [RCV000079928]|not specified [RCV000079928] Chr1:100206323 [GRCh38]
Chr1:100671879 [GRCh37]
Chr1:1p21.2
benign
NM_001918.4(DBT):c.1210-9A>T single nucleotide variant Maple syrup urine disease [RCV000370215]|not specified [RCV000079929] Chr1:100206310 [GRCh38]
Chr1:100671866 [GRCh37]
Chr1:1p21.2
benign
NM_001918.4(DBT):c.1258A>G (p.Ile420Val) single nucleotide variant not provided [RCV000079930] Chr1:100206253 [GRCh38]
Chr1:100671809 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.1281+31T>G single nucleotide variant not specified [RCV000079931] Chr1:100206199 [GRCh38]
Chr1:100671755 [GRCh37]
Chr1:1p21.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_001918.4(DBT):c.1281+6T>G single nucleotide variant Maple syrup urine disease [RCV000315422]|not provided [RCV000224461]|not specified [RCV000079932] Chr1:100206224 [GRCh38]
Chr1:100671780 [GRCh37]
Chr1:1p21.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_001918.4(DBT):c.1291C>T (p.Arg431Ter) single nucleotide variant Maple syrup urine disease [RCV000174059]|not provided [RCV000790685] Chr1:100196413 [GRCh38]
Chr1:100661969 [GRCh37]
Chr1:1p21.2
pathogenic|likely pathogenic
NM_001918.4(DBT):c.1348G>A (p.Ala450Thr) single nucleotide variant Maple syrup urine disease [RCV000664496]|not provided [RCV000079934] Chr1:100196356 [GRCh38]
Chr1:100661912 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.1418A>G (p.Asn473Ser) single nucleotide variant Maple syrup urine disease [RCV000280987]|not provided [RCV000079935] Chr1:100196286 [GRCh38]
Chr1:100661842 [GRCh37]
Chr1:1p21.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001918.4(DBT):c.1430T>G (p.Met477Arg) single nucleotide variant Maple syrup urine disease [RCV000702839]|not provided [RCV000079936] Chr1:100196274 [GRCh38]
Chr1:100661830 [GRCh37]
Chr1:1p21.2
pathogenic|uncertain significance
NM_001918.4(DBT):c.1447T>C (p.Ter483Arg) single nucleotide variant not provided [RCV000174060] Chr1:100196257 [GRCh38]
Chr1:100661813 [GRCh37]
Chr1:1p21.2
likely pathogenic
NM_001918.4(DBT):c.175+37G>A single nucleotide variant not specified [RCV000079938] Chr1:100240724 [GRCh38]
Chr1:100706280 [GRCh37]
Chr1:1p21.2
benign
NM_001918.4(DBT):c.209C>T (p.Ser70Leu) single nucleotide variant not provided [RCV000185841] Chr1:100235478 [GRCh38]
Chr1:100701034 [GRCh37]
Chr1:1p21.2
likely pathogenic|uncertain significance
NM_001918.4(DBT):c.251+14dup duplication not specified [RCV000079940] Chr1:100235416..100235417 [GRCh38]
Chr1:100700972..100700973 [GRCh37]
Chr1:1p21.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_001918.4(DBT):c.251G>A (p.Trp84Ter) single nucleotide variant not provided [RCV000177143] Chr1:100235436 [GRCh38]
Chr1:100700992 [GRCh37]
Chr1:1p21.2
pathogenic
NM_001918.4(DBT):c.272_275del (p.Thr91fs) deletion not provided [RCV000178172] Chr1:100230891..100230894 [GRCh38]
Chr1:100696447..100696450 [GRCh37]
Chr1:1p21.2
pathogenic
NM_001918.4(DBT):c.339_345del (p.Tyr114fs) deletion not provided [RCV000178170] Chr1:100230821..100230827 [GRCh38]
Chr1:100696377..100696383 [GRCh37]
Chr1:1p21.2
pathogenic
NM_001918.4(DBT):c.360del (p.Lys120fs) deletion not provided [RCV000178171] Chr1:100230806 [GRCh38]
Chr1:100696362 [GRCh37]
Chr1:1p21.2
pathogenic
NM_001918.4(DBT):c.51+1G>T single nucleotide variant not provided [RCV000173266] Chr1:100249769 [GRCh38]
Chr1:100715325 [GRCh37]
Chr1:1p21.2
pathogenic
NM_001918.4(DBT):c.51+5G>C single nucleotide variant not provided [RCV000079946] Chr1:100249765 [GRCh38]
Chr1:100715321 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.52-27T>A single nucleotide variant not provided [RCV000079947] Chr1:100240911 [GRCh38]
Chr1:100706467 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.577G>A (p.Gly193Ser) single nucleotide variant Maple syrup urine disease [RCV000558178]|not provided [RCV000079948] Chr1:100216178 [GRCh38]
Chr1:100681734 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.5C>T (p.Ala2Val) single nucleotide variant Maple syrup urine disease [RCV000631893]|not provided [RCV000079949] Chr1:100249816 [GRCh38]
Chr1:100715372 [GRCh37]
Chr1:1p21.2
conflicting interpretations of pathogenicity|uncertain significance
NM_001918.4(DBT):c.61C>T (p.Arg21Cys) single nucleotide variant Maple syrup urine disease [RCV000670564]|not provided [RCV000079950] Chr1:100240875 [GRCh38]
Chr1:100706431 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.670G>T (p.Glu224Ter) single nucleotide variant Maple syrup urine disease [RCV000179397]|not provided [RCV000079951] Chr1:100216085 [GRCh38]
Chr1:100681641 [GRCh37]
Chr1:1p21.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_001918.4(DBT):c.715A>G (p.Ile239Val) single nucleotide variant Maple syrup urine disease [RCV000357637]|not specified [RCV000079952] Chr1:100216040 [GRCh38]
Chr1:100681596 [GRCh37]
Chr1:1p21.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_001918.4(DBT):c.724T>C (p.Ser242Pro) single nucleotide variant Maple syrup urine disease [RCV000551526]|not provided [RCV000224772]|not specified [RCV000079953] Chr1:100216031 [GRCh38]
Chr1:100681587 [GRCh37]
Chr1:1p21.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_001918.4(DBT):c.753C>T (p.Asp251=) single nucleotide variant Maple syrup urine disease [RCV000871289]|not specified [RCV000079954] Chr1:100216002 [GRCh38]
Chr1:100681558 [GRCh37]
Chr1:1p21.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_001918.4(DBT):c.76T>C (p.Cys26Arg) single nucleotide variant Maple syrup urine disease [RCV000873037]|not specified [RCV000079955] Chr1:100240860 [GRCh38]
Chr1:100706416 [GRCh37]
Chr1:1p21.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001918.4(DBT):c.773-2A>G single nucleotide variant not provided [RCV000179838] Chr1:100214985 [GRCh38]
Chr1:100680541 [GRCh37]
Chr1:1p21.2
pathogenic
NM_001918.4(DBT):c.871C>T (p.Arg291Ter) single nucleotide variant Maple syrup urine disease [RCV001330865]|not provided [RCV000179837] Chr1:100214885 [GRCh38]
Chr1:100680441 [GRCh37]
Chr1:1p21.2
pathogenic
NM_001918.4(DBT):c.901C>T (p.Arg301Cys) single nucleotide variant Maple syrup urine disease [RCV000179836]|not provided [RCV000079959] Chr1:100214855 [GRCh38]
Chr1:100680411 [GRCh37]
Chr1:1p21.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_001918.4(DBT):c.939G>C (p.Lys313Asn) single nucleotide variant Maple syrup urine disease [RCV000179839]|Maple syrup urine disease type 2 [RCV001250158]|not provided [RCV000790732] Chr1:100214817 [GRCh38]
Chr1:100680373 [GRCh37]
Chr1:1p21.2
pathogenic|likely pathogenic
NM_001918.4(DBT):c.1150= (p.Gly384=) single nucleotide variant Maple syrup urine disease [RCV001000210]|not specified [RCV000116865] Chr1:100206504 [GRCh38]
Chr1:100672060 [GRCh37]
Chr1:1p21.2
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_001918.4(DBT):c.1210-10_1210-9del deletion not provided [RCV000871126]|not specified [RCV000173750] Chr1:100206310..100206311 [GRCh38]
Chr1:100671866..100671867 [GRCh37]
Chr1:1p21.2
benign
NM_001918.4(DBT):c.126T>G (p.Tyr42Ter) single nucleotide variant Maple syrup urine disease [RCV000175709]|not provided [RCV000724185] Chr1:100240810 [GRCh38]
Chr1:100706366 [GRCh37]
Chr1:1p21.2
pathogenic|likely pathogenic
NM_001918.4(DBT):c.433+1G>T single nucleotide variant not provided [RCV000178173] Chr1:100230732 [GRCh38]
Chr1:100696288 [GRCh37]
Chr1:1p21.2
pathogenic
NM_001918.5(DBT):c.836G>T (p.Cys279Phe) single nucleotide variant Maple syrup urine disease [RCV001349367] Chr1:100214920 [GRCh38]
Chr1:100680476 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.1210-22dup duplication Maple syrup urine disease [RCV000402009]|not provided [RCV000173751] Chr1:100206310..100206311 [GRCh38]
Chr1:100671866..100671867 [GRCh37]
Chr1:1p21.2
uncertain significance
GRCh38/hg38 1p21.3-13.3(chr1:97272349-108893138)x1 copy number loss See cases [RCV000135333] Chr1:97272349..108893138 [GRCh38]
Chr1:97737905..109435760 [GRCh37]
Chr1:97510493..109237283 [NCBI36]
Chr1:1p21.3-13.3
pathogenic
GRCh38/hg38 1p31.1-21.1(chr1:83457325-104273917)x3 copy number gain See cases [RCV000135654] Chr1:83457325..104273917 [GRCh38]
Chr1:83923008..104816539 [GRCh37]
Chr1:83695596..104618062 [NCBI36]
Chr1:1p31.1-21.1
pathogenic
NM_001918.4(DBT):c.1210-4del deletion Maple syrup urine disease [RCV000545442]|not specified [RCV000153136] Chr1:100206305 [GRCh38]
Chr1:100671861 [GRCh37]
Chr1:1p21.2
benign
NM_001918.4(DBT):c.1024C>T (p.His342Tyr) single nucleotide variant not provided [RCV000153137] Chr1:100206630 [GRCh38]
Chr1:100672186 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.434-15_434-4del deletion not provided [RCV000178857] Chr1:100218751..100218762 [GRCh38]
Chr1:100684307..100684318 [GRCh37]
Chr1:1p21.2
pathogenic
NM_001918.4(DBT):c.365A>G (p.Tyr122Cys) single nucleotide variant not provided [RCV000153139] Chr1:100230801 [GRCh38]
Chr1:100696357 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.137A>G (p.Lys46Arg) single nucleotide variant not provided [RCV000175710] Chr1:100240799 [GRCh38]
Chr1:100706355 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.327C>T (p.Thr109=) single nucleotide variant Maple syrup urine disease [RCV000322581]|not provided [RCV000756009]|not specified [RCV000192508] Chr1:100230839 [GRCh38]
Chr1:100696395 [GRCh37]
Chr1:1p21.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001918.4(DBT):c.37A>G (p.Asn13Asp) single nucleotide variant Maple syrup urine disease [RCV000873425]|not specified [RCV000193720] Chr1:100249784 [GRCh38]
Chr1:100715340 [GRCh37]
Chr1:1p21.2
benign|likely benign|uncertain significance
NM_001918.4(DBT):c.917C>G (p.Ser306Cys) single nucleotide variant not provided [RCV000179840] Chr1:100214839 [GRCh38]
Chr1:100680395 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.3(DBT):c.215T>C (p.Ile72Thr) single nucleotide variant not specified [RCV000185842] Chr1:100235472 [GRCh38]
Chr1:100701028 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.*3521G>A single nucleotide variant Maple syrup urine disease [RCV000259481] Chr1:100192734 [GRCh38]
Chr1:100658290 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.*4124C>A single nucleotide variant Maple syrup urine disease [RCV000265179] Chr1:100192131 [GRCh38]
Chr1:100657687 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.1282-14_1282-10del deletion Maple syrup urine disease [RCV000399894]|not specified [RCV000332717] Chr1:100196432..100196436 [GRCh38]
Chr1:100661988..100661992 [GRCh37]
Chr1:1p21.2
benign|uncertain significance
NM_001918.4(DBT):c.1261G>T (p.Gly421Trp) single nucleotide variant Maple syrup urine disease [RCV001053968] Chr1:100206250 [GRCh38]
Chr1:100671806 [GRCh37]
Chr1:1p21.2
likely pathogenic|uncertain significance
NM_001918.4(DBT):c.506G>A (p.Arg169Gln) single nucleotide variant Maple syrup urine disease [RCV000267622]|not specified [RCV000432374] Chr1:100218675 [GRCh38]
Chr1:100684231 [GRCh37]
Chr1:1p21.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001918.4(DBT):c.1210-11T>A single nucleotide variant Maple syrup urine disease [RCV000366487] Chr1:100206312 [GRCh38]
Chr1:100671868 [GRCh37]
Chr1:1p21.2
likely benign|uncertain significance
NM_001918.4(DBT):c.291C>T (p.Ser97=) single nucleotide variant Maple syrup urine disease [RCV000372605]|not specified [RCV000439344] Chr1:100230875 [GRCh38]
Chr1:100696431 [GRCh37]
Chr1:1p21.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 1p36.12-12(chr1:20608823-120546301)x3 copy number loss not provided [RCV000762767] Chr1:20608823..120546301 [GRCh37]
Chr1:1p36.12-12
likely benign
NM_001918.4(DBT):c.1033G>A (p.Gly345Arg) single nucleotide variant Maple syrup urine disease [RCV000209922] Chr1:100206621 [GRCh38]
Chr1:100672177 [GRCh37]
Chr1:1p21.2
pathogenic
NM_001918.4(DBT):c.82_84dup (p.Asn28dup) duplication Maple syrup urine disease [RCV000669554] Chr1:100240851..100240852 [GRCh38]
Chr1:100706407..100706408 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.1400G>A (p.Trp467Ter) single nucleotide variant Maple syrup urine disease [RCV000669588]|not provided [RCV000760490] Chr1:100196304 [GRCh38]
Chr1:100661860 [GRCh37]
Chr1:1p21.2
likely pathogenic|uncertain significance
NM_001918.4(DBT):c.1111G>A (p.Ala371Thr) single nucleotide variant Maple syrup urine disease [RCV000322450] Chr1:100206543 [GRCh38]
Chr1:100672099 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.*7307G>C single nucleotide variant Maple syrup urine disease [RCV000278449] Chr1:100188948 [GRCh38]
Chr1:100654504 [GRCh37]
Chr1:1p21.2
likely benign|uncertain significance
NM_001918.4(DBT):c.*551C>T single nucleotide variant Maple syrup urine disease [RCV000283609] Chr1:100195704 [GRCh38]
Chr1:100661260 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.*8275A>G single nucleotide variant Maple syrup urine disease [RCV000284255] Chr1:100187980 [GRCh38]
Chr1:100653536 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.*2619G>A single nucleotide variant Maple syrup urine disease [RCV000286838] Chr1:100193636 [GRCh38]
Chr1:100659192 [GRCh37]
Chr1:1p21.2
likely benign|uncertain significance
NM_001918.4(DBT):c.*5317T>C single nucleotide variant Maple syrup urine disease [RCV000280316] Chr1:100190938 [GRCh38]
Chr1:100656494 [GRCh37]
Chr1:1p21.2
benign
NM_001918.4(DBT):c.*5838G>A single nucleotide variant Maple syrup urine disease [RCV000268433] Chr1:100190417 [GRCh38]
Chr1:100655973 [GRCh37]
Chr1:1p21.2
benign|likely benign
NM_001918.4(DBT):c.*5919A>G single nucleotide variant Maple syrup urine disease [RCV000268900] Chr1:100190336 [GRCh38]
Chr1:100655892 [GRCh37]
Chr1:1p21.2
benign|likely benign
NM_001918.4(DBT):c.*8734A>C single nucleotide variant Maple syrup urine disease [RCV000271655] Chr1:100187521 [GRCh38]
Chr1:100653077 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.*1064del deletion Maple syrup urine disease [RCV000276875] Chr1:100195191 [GRCh38]
Chr1:100660747 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.*3869del deletion Maple syrup urine disease [RCV000299423] Chr1:100192386 [GRCh38]
Chr1:100657942 [GRCh37]
Chr1:1p21.2
likely benign
NM_001918.4(DBT):c.*344G>T single nucleotide variant Maple syrup urine disease [RCV000397497] Chr1:100195911 [GRCh38]
Chr1:100661467 [GRCh37]
Chr1:1p21.2
benign|likely benign
NM_001918.4(DBT):c.*6903T>A single nucleotide variant Maple syrup urine disease [RCV000314460] Chr1:100189352 [GRCh38]
Chr1:100654908 [GRCh37]
Chr1:1p21.2
benign
NM_001918.4(DBT):c.*347C>T single nucleotide variant Maple syrup urine disease [RCV000334994] Chr1:100195908 [GRCh38]
Chr1:100661464 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.*3461A>G single nucleotide variant Maple syrup urine disease [RCV000317021] Chr1:100192794 [GRCh38]
Chr1:100658350 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.*3652G>C single nucleotide variant Maple syrup urine disease [RCV000356631] Chr1:100192603 [GRCh38]
Chr1:100658159 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.*2074A>C single nucleotide variant Maple syrup urine disease [RCV000356728] Chr1:100194181 [GRCh38]
Chr1:100659737 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.*9153_*9156del deletion Maple syrup urine disease [RCV000356570] Chr1:100187099..100187102 [GRCh38]
Chr1:100652655..100652658 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.*5591T>C single nucleotide variant Maple syrup urine disease [RCV000378262] Chr1:100190664 [GRCh38]
Chr1:100656220 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.*470G>A single nucleotide variant Maple syrup urine disease [RCV000379307] Chr1:100195785 [GRCh38]
Chr1:100661341 [GRCh37]
Chr1:1p21.2
benign|uncertain significance
NM_001918.4(DBT):c.*4446C>G single nucleotide variant Maple syrup urine disease [RCV000401538] Chr1:100191809 [GRCh38]
Chr1:100657365 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.*8226G>T single nucleotide variant Maple syrup urine disease [RCV000336916] Chr1:100188029 [GRCh38]
Chr1:100653585 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.*4273C>A single nucleotide variant Maple syrup urine disease [RCV000357560] Chr1:100191982 [GRCh38]
Chr1:100657538 [GRCh37]
Chr1:1p21.2
likely benign|uncertain significance
NM_001918.4(DBT):c.*2633_*2636AAAT[5] microsatellite Maple syrup urine disease [RCV000402120] Chr1:100193599..100193602 [GRCh38]
Chr1:100659155..100659158 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.*5546G>A single nucleotide variant Maple syrup urine disease [RCV000319712] Chr1:100190709 [GRCh38]
Chr1:100656265 [GRCh37]
Chr1:1p21.2
benign
NM_001918.4(DBT):c.*2822T>G single nucleotide variant Maple syrup urine disease [RCV000290435] Chr1:100193433 [GRCh38]
Chr1:100658989 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.*2633_*2636AAAT[7] microsatellite Maple syrup urine disease [RCV000340607] Chr1:100193598..100193599 [GRCh38]
Chr1:100659154..100659155 [GRCh37]
Chr1:1p21.2
likely benign
NM_001918.4(DBT):c.*5875T>G single nucleotide variant Maple syrup urine disease [RCV000360673] Chr1:100190380 [GRCh38]
Chr1:100655936 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.*8607G>A single nucleotide variant Maple syrup urine disease [RCV000382411] Chr1:100187648 [GRCh38]
Chr1:100653204 [GRCh37]
Chr1:1p21.2
likely benign
NM_001918.4(DBT):c.*594A>G single nucleotide variant Maple syrup urine disease [RCV000383229] Chr1:100195661 [GRCh38]
Chr1:100661217 [GRCh37]
Chr1:1p21.2
benign|likely benign
NM_001918.4(DBT):c.*2542del deletion Maple syrup urine disease [RCV000341774] Chr1:100193713 [GRCh38]
Chr1:100659269 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.*4507T>C single nucleotide variant Maple syrup urine disease [RCV000293263] Chr1:100191748 [GRCh38]
Chr1:100657304 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.*5877G>C single nucleotide variant Maple syrup urine disease [RCV000308345] Chr1:100190378 [GRCh38]
Chr1:100655934 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.*6228A>T single nucleotide variant Maple syrup urine disease [RCV000308827] Chr1:100190027 [GRCh38]
Chr1:100655583 [GRCh37]
Chr1:1p21.2
benign
NM_001918.4(DBT):c.*6114_*6115del deletion Maple syrup urine disease [RCV000365742] Chr1:100190140..100190141 [GRCh38]
Chr1:100655696..100655697 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.*6901T>A single nucleotide variant Maple syrup urine disease [RCV000366733] Chr1:100189354 [GRCh38]
Chr1:100654910 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.*4872A>G single nucleotide variant Maple syrup urine disease [RCV000389837] Chr1:100191383 [GRCh38]
Chr1:100656939 [GRCh37]
Chr1:1p21.2
benign|likely benign
NM_001918.4(DBT):c.*4395G>A single nucleotide variant Maple syrup urine disease [RCV000310696] Chr1:100191860 [GRCh38]
Chr1:100657416 [GRCh37]
Chr1:1p21.2
benign|likely benign
NM_001918.4(DBT):c.*9105A>G single nucleotide variant Maple syrup urine disease [RCV000392153] Chr1:100187150 [GRCh38]
Chr1:100652706 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.*6646G>T single nucleotide variant Maple syrup urine disease [RCV000393871] Chr1:100189609 [GRCh38]
Chr1:100655165 [GRCh37]
Chr1:1p21.2
benign|likely benign
NM_001918.4(DBT):c.*3233C>T single nucleotide variant Maple syrup urine disease [RCV000329977] Chr1:100193022 [GRCh38]
Chr1:100658578 [GRCh37]
Chr1:1p21.2
benign
NM_001918.4(DBT):c.*8977T>C single nucleotide variant Maple syrup urine disease [RCV000330044] Chr1:100187278 [GRCh38]
Chr1:100652834 [GRCh37]
Chr1:1p21.2
benign|likely benign
NM_001918.4(DBT):c.*4506A>G single nucleotide variant Maple syrup urine disease [RCV000350352] Chr1:100191749 [GRCh38]
Chr1:100657305 [GRCh37]
Chr1:1p21.2
benign
NM_001918.4(DBT):c.*9082C>T single nucleotide variant Maple syrup urine disease [RCV000298307] Chr1:100187173 [GRCh38]
Chr1:100652729 [GRCh37]
Chr1:1p21.2
benign|likely benign
NM_001918.4(DBT):c.*985C>T single nucleotide variant Maple syrup urine disease [RCV000331970] Chr1:100195270 [GRCh38]
Chr1:100660826 [GRCh37]
Chr1:1p21.2
benign|likely benign
NM_001918.4(DBT):c.*5150A>G single nucleotide variant Maple syrup urine disease [RCV000351715] Chr1:100191105 [GRCh38]
Chr1:100656661 [GRCh37]
Chr1:1p21.2
benign
NM_001918.4(DBT):c.*5328C>G single nucleotide variant Maple syrup urine disease [RCV000372020] Chr1:100190927 [GRCh38]
Chr1:100656483 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.*8983dup duplication Maple syrup urine disease [RCV000277312] Chr1:100187271..100187272 [GRCh38]
Chr1:100652827..100652828 [GRCh37]
Chr1:1p21.2
likely benign
NM_001918.4(DBT):c.*488G>A single nucleotide variant Maple syrup urine disease [RCV000324719] Chr1:100195767 [GRCh38]
Chr1:100661323 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.*5561A>G single nucleotide variant Maple syrup urine disease [RCV000262250] Chr1:100190694 [GRCh38]
Chr1:100656250 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.1282-11_1282-5del deletion not provided [RCV000282864] Chr1:100196427..100196433 [GRCh38]
Chr1:100661983..100661989 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.*3336_*3338dup duplication Maple syrup urine disease [RCV000277243] Chr1:100192916..100192917 [GRCh38]
Chr1:100658472..100658473 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.*678_*681TTAA[1] microsatellite Maple syrup urine disease [RCV000268829] Chr1:100195570..100195573 [GRCh38]
Chr1:100661126..100661129 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.*456C>G single nucleotide variant Maple syrup urine disease [RCV000279976] Chr1:100195799 [GRCh38]
Chr1:100661355 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.*6903del deletion Maple syrup urine disease [RCV000399929] Chr1:100189352 [GRCh38]
Chr1:100654908 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.*722C>T single nucleotide variant Maple syrup urine disease [RCV000363465] Chr1:100195533 [GRCh38]
Chr1:100661089 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.*8073C>T single nucleotide variant Maple syrup urine disease [RCV000400522] Chr1:100188182 [GRCh38]
Chr1:100653738 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.*4321G>T single nucleotide variant Maple syrup urine disease [RCV000400604] Chr1:100191934 [GRCh38]
Chr1:100657490 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.*4281del deletion Maple syrup urine disease [RCV000305152] Chr1:100191974 [GRCh38]
Chr1:100657530 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.*1064dup duplication Maple syrup urine disease [RCV000366840] Chr1:100195190..100195191 [GRCh38]
Chr1:100660746..100660747 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.*3027A>G single nucleotide variant Maple syrup urine disease [RCV000384774] Chr1:100193228 [GRCh38]
Chr1:100658784 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.1389C>T (p.Phe463=) single nucleotide variant Maple syrup urine disease [RCV000350038] Chr1:100196315 [GRCh38]
Chr1:100661871 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.*7187G>A single nucleotide variant Maple syrup urine disease [RCV000335589] Chr1:100189068 [GRCh38]
Chr1:100654624 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.*8900A>T single nucleotide variant Maple syrup urine disease [RCV000368403] Chr1:100187355 [GRCh38]
Chr1:100652911 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.*3201G>A single nucleotide variant Maple syrup urine disease [RCV000386838] Chr1:100193054 [GRCh38]
Chr1:100658610 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.*5638C>T single nucleotide variant Maple syrup urine disease [RCV000321221] Chr1:100190617 [GRCh38]
Chr1:100656173 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.*9058C>T single nucleotide variant Maple syrup urine disease [RCV000369530] Chr1:100187197 [GRCh38]
Chr1:100652753 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.*3455C>T single nucleotide variant Maple syrup urine disease [RCV000387945] Chr1:100192800 [GRCh38]
Chr1:100658356 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.*8554dup duplication Maple syrup urine disease [RCV000285677] Chr1:100187700..100187701 [GRCh38]
Chr1:100653256..100653257 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.*2114T>C single nucleotide variant Maple syrup urine disease [RCV000297202] Chr1:100194141 [GRCh38]
Chr1:100659697 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.*2363G>T single nucleotide variant Maple syrup urine disease [RCV000390355] Chr1:100193892 [GRCh38]
Chr1:100659448 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.*8552_*8553insT insertion Maple syrup urine disease [RCV000324242] Chr1:100187702..100187703 [GRCh38]
Chr1:100653258..100653259 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.*1917C>A single nucleotide variant Maple syrup urine disease [RCV000392071] Chr1:100194338 [GRCh38]
Chr1:100659894 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.*3187C>G single nucleotide variant Maple syrup urine disease [RCV000289311] Chr1:100193068 [GRCh38]
Chr1:100658624 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.*1747A>G single nucleotide variant Maple syrup urine disease [RCV000312193] Chr1:100194508 [GRCh38]
Chr1:100660064 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.*8385A>C single nucleotide variant Maple syrup urine disease [RCV000376547] Chr1:100187870 [GRCh38]
Chr1:100653426 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.*635C>T single nucleotide variant Maple syrup urine disease [RCV000328661] Chr1:100195620 [GRCh38]
Chr1:100661176 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.*8642C>G single nucleotide variant Maple syrup urine disease [RCV000328998] Chr1:100187613 [GRCh38]
Chr1:100653169 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.*3135G>A single nucleotide variant Maple syrup urine disease [RCV000344259] Chr1:100193120 [GRCh38]
Chr1:100658676 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.*4377C>G single nucleotide variant Maple syrup urine disease [RCV000344576] Chr1:100191878 [GRCh38]
Chr1:100657434 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.*2851C>T single nucleotide variant Maple syrup urine disease [RCV001099067] Chr1:100193404 [GRCh38]
Chr1:100658960 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.*2213T>C single nucleotide variant Maple syrup urine disease [RCV001099070] Chr1:100194042 [GRCh38]
Chr1:100659598 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.1036A>G (p.Ile346Val) single nucleotide variant Maple syrup urine disease [RCV001099249] Chr1:100206618 [GRCh38]
Chr1:100672174 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.1210-9_1210-8insT insertion Maple syrup urine disease [RCV000534141] Chr1:100206309..100206310 [GRCh38]
Chr1:100671865..100671866 [GRCh37]
Chr1:1p21.2
benign
NM_001918.4(DBT):c.725C>G (p.Ser242Ter) single nucleotide variant Maple syrup urine disease [RCV000409585] Chr1:100216030 [GRCh38]
Chr1:100681586 [GRCh37]
Chr1:1p21.2
likely pathogenic
NM_001918.4(DBT):c.1210-9dup duplication Maple syrup urine disease [RCV000557972] Chr1:100206304..100206305 [GRCh38]
Chr1:100671860..100671861 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.433+18A>G single nucleotide variant not specified [RCV000424863] Chr1:100230715 [GRCh38]
Chr1:100696271 [GRCh37]
Chr1:1p21.2
likely benign
NM_001918.4(DBT):c.252-13C>G single nucleotide variant not specified [RCV000435558] Chr1:100230927 [GRCh38]
Chr1:100696483 [GRCh37]
Chr1:1p21.2
likely benign
NM_001918.4(DBT):c.1143C>G (p.Gly381=) single nucleotide variant not specified [RCV000433221] Chr1:100206511 [GRCh38]
Chr1:100672067 [GRCh37]
Chr1:1p21.2
likely benign
NM_001918.4(DBT):c.731del (p.Pro244fs) deletion not provided [RCV000480067] Chr1:100216024 [GRCh38]
Chr1:100681580 [GRCh37]
Chr1:1p21.2
likely pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
NM_001918.4(DBT):c.902G>A (p.Arg301His) single nucleotide variant Maple syrup urine disease [RCV000503792] Chr1:100214854 [GRCh38]
Chr1:100680410 [GRCh37]
Chr1:1p21.2
pathogenic
NM_001918.4(DBT):c.1210-10del deletion Maple syrup urine disease [RCV000625322]|not specified [RCV000506498] Chr1:100206311 [GRCh38]
Chr1:100671867 [GRCh37]
Chr1:1p21.2
benign
NM_001918.4(DBT):c.1282-14_1282-9del deletion Maple syrup urine disease [RCV000913124]|not specified [RCV000507082] Chr1:100196431..100196436 [GRCh38]
Chr1:100661987..100661992 [GRCh37]
Chr1:1p21.2
benign
NM_001918.4(DBT):c.401C>T (p.Pro134Leu) single nucleotide variant Maple syrup urine disease [RCV000984157]|not provided [RCV000493274] Chr1:100230765 [GRCh38]
Chr1:100696321 [GRCh37]
Chr1:1p21.2
likely pathogenic|uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
NM_001918.4(DBT):c.260_262AAG[1] (p.Glu88del) microsatellite Maple syrup urine disease [RCV000631895] Chr1:100230901..100230903 [GRCh38]
Chr1:100696457..100696459 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.311A>G (p.Asp104Gly) single nucleotide variant Maple syrup urine disease [RCV000631890] Chr1:100230855 [GRCh38]
Chr1:100696411 [GRCh37]
Chr1:1p21.2
likely pathogenic
NM_001918.4(DBT):c.1209+17A>C single nucleotide variant not specified [RCV000607865] Chr1:100206428 [GRCh38]
Chr1:100671984 [GRCh37]
Chr1:1p21.2
likely benign
NM_001918.4(DBT):c.1210-8A>T single nucleotide variant Maple syrup urine disease [RCV000910455]|not specified [RCV000613510] Chr1:100206309 [GRCh38]
Chr1:100671865 [GRCh37]
Chr1:1p21.2
benign|likely benign
NM_001918.4(DBT):c.872G>T (p.Arg291Leu) single nucleotide variant Maple syrup urine disease [RCV000535685] Chr1:100214884 [GRCh38]
Chr1:100680440 [GRCh37]
Chr1:1p21.2
likely pathogenic|conflicting interpretations of pathogenicity
NM_001918.4(DBT):c.6T>A (p.Ala2=) single nucleotide variant not specified [RCV000612037] Chr1:100249815 [GRCh38]
Chr1:100715371 [GRCh37]
Chr1:1p21.2
likely benign
GRCh37/hg19 1p22.1-11.2(chr1:93837992-121343783)x3 copy number gain See cases [RCV000512354] Chr1:93837992..121343783 [GRCh37]
Chr1:1p22.1-11.2
pathogenic
NM_001918.4(DBT):c.555+1G>A single nucleotide variant Maple syrup urine disease [RCV000671865] Chr1:100218625 [GRCh38]
Chr1:100684181 [GRCh37]
Chr1:1p21.2
likely pathogenic
NM_001918.4(DBT):c.641_643del (p.Gly214del) deletion Maple syrup urine disease [RCV000664964] Chr1:100216112..100216114 [GRCh38]
Chr1:100681668..100681670 [GRCh37]
Chr1:1p21.2
likely benign
NM_001918.4(DBT):c.360dup (p.Leu121fs) duplication Maple syrup urine disease [RCV000670088] Chr1:100230805..100230806 [GRCh38]
Chr1:100696361..100696362 [GRCh37]
Chr1:1p21.2
likely pathogenic
NM_001918.4(DBT):c.434-1G>A single nucleotide variant Maple syrup urine disease [RCV000666893] Chr1:100218748 [GRCh38]
Chr1:100684304 [GRCh37]
Chr1:1p21.2
likely pathogenic
NM_001918.4(DBT):c.438_440AGA[2] (p.Glu148del) microsatellite Maple syrup urine disease [RCV000668049] Chr1:100218735..100218737 [GRCh38]
Chr1:100684291..100684293 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.1165_1166del (p.Thr388_Thr389insTer) deletion Maple syrup urine disease [RCV000671028] Chr1:100206488..100206489 [GRCh38]
Chr1:100672044..100672045 [GRCh37]
Chr1:1p21.2
likely pathogenic
NM_001918.4(DBT):c.*358A>C single nucleotide variant Maple syrup urine disease [RCV000668460] Chr1:100195897 [GRCh38]
Chr1:100661453 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.52-48_52-45delinsTAC indel Maple syrup urine disease [RCV000668633] Chr1:100240929..100240932 [GRCh38]
Chr1:100706485..100706488 [GRCh37]
Chr1:1p21.2
likely benign
NM_001918.4(DBT):c.258_277del (p.Lys87fs) deletion Maple syrup urine disease [RCV000673199] Chr1:100230889..100230908 [GRCh38]
Chr1:100696445..100696464 [GRCh37]
Chr1:1p21.2
likely pathogenic
NM_001918.4(DBT):c.634C>T (p.Gln212Ter) single nucleotide variant Maple syrup urine disease [RCV000673717] Chr1:100216121 [GRCh38]
Chr1:100681677 [GRCh37]
Chr1:1p21.2
likely pathogenic
NM_001918.4(DBT):c.1126C>T (p.Arg376Cys) single nucleotide variant Maple syrup urine disease [RCV000670216]|not provided [RCV001092053] Chr1:100206528 [GRCh38]
Chr1:100672084 [GRCh37]
Chr1:1p21.2
pathogenic|uncertain significance
NM_001918.4(DBT):c.165_167AAC[1] (p.Thr57del) microsatellite Maple syrup urine disease [RCV000665578] Chr1:100240766..100240768 [GRCh38]
Chr1:100706322..100706324 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.449_451TTG[1] (p.Val151del) microsatellite Maple syrup urine disease [RCV000665504] Chr1:100218727..100218729 [GRCh38]
Chr1:100684283..100684285 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.788T>C (p.Met263Thr) single nucleotide variant Maple syrup urine disease [RCV000667766] Chr1:100214968 [GRCh38]
Chr1:100680524 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.139_140TA[1] (p.Tyr47_Ser48delinsTer) microsatellite Maple syrup urine disease [RCV000666032] Chr1:100240794..100240795 [GRCh38]
Chr1:100706350..100706351 [GRCh37]
Chr1:1p21.2
likely pathogenic
NM_001918.4(DBT):c.1202T>C (p.Ile401Thr) single nucleotide variant Maple syrup urine disease [RCV000668260] Chr1:100206452 [GRCh38]
Chr1:100672008 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.1343G>A (p.Trp448Ter) single nucleotide variant Maple syrup urine disease [RCV000672644] Chr1:100196361 [GRCh38]
Chr1:100661917 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.1282-5_1282-2del deletion Maple syrup urine disease [RCV000673699] Chr1:100196424..100196427 [GRCh38]
Chr1:100661980..100661983 [GRCh37]
Chr1:1p21.2
likely pathogenic
NM_001918.4(DBT):c.1382C>A (p.Ser461Ter) single nucleotide variant Maple syrup urine disease [RCV000673281] Chr1:100196322 [GRCh38]
Chr1:100661878 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.1017G>A (p.Lys339=) single nucleotide variant Maple syrup urine disease [RCV000665137] Chr1:100210694 [GRCh38]
Chr1:100676250 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.1195T>G (p.Ser399Ala) single nucleotide variant Maple syrup urine disease [RCV000666706] Chr1:100206459 [GRCh38]
Chr1:100672015 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.367_372del (p.Tyr123_Asn124del) deletion Maple syrup urine disease [RCV000721996] Chr1:100230794..100230799 [GRCh38]
Chr1:100696350..100696355 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.1217G>T (p.Gly406Val) single nucleotide variant Maple syrup urine disease [RCV000691390] Chr1:100206294 [GRCh38]
Chr1:100671850 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.967_975dup (p.Pro323_Leu325dup) duplication Maple syrup urine disease [RCV000706496] Chr1:100210735..100210736 [GRCh38]
Chr1:100676291..100676292 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.709G>C (p.Val237Leu) single nucleotide variant Maple syrup urine disease [RCV000693848] Chr1:100216046 [GRCh38]
Chr1:100681602 [GRCh37]
Chr1:1p21.2
uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p21.2(chr1:100443462-100693294)x3 copy number gain not provided [RCV000736589] Chr1:100443462..100693294 [GRCh37]
Chr1:1p21.2
benign
GRCh37/hg19 1p22.1-13.3(chr1:94054724-111671707)x3 copy number gain not provided [RCV000749068] Chr1:94054724..111671707 [GRCh37]
Chr1:1p22.1-13.3
pathogenic
NM_001918.4(DBT):c.663_670del (p.Lys222fs) deletion Maple syrup urine disease [RCV000761468] Chr1:100216085..100216092 [GRCh38]
Chr1:100681641..100681648 [GRCh37]
Chr1:1p21.2
pathogenic
NM_001918.4(DBT):c.1281+1G>T single nucleotide variant Maple syrup urine disease [RCV000761471] Chr1:100206229 [GRCh38]
Chr1:100671785 [GRCh37]
Chr1:1p21.2
likely pathogenic
NC_000001.11:g.(?_100240751)_(100240894_?)del deletion Maple syrup urine disease [RCV001031024] Chr1:100706307..100706450 [GRCh37]
Chr1:1p21.2
pathogenic
NM_001918.4(DBT):c.747C>A (p.Gly249=) single nucleotide variant Maple syrup urine disease [RCV000882349] Chr1:100216008 [GRCh38]
Chr1:100681564 [GRCh37]
Chr1:1p21.2
benign|likely benign
NM_001918.4(DBT):c.1282-9C>A single nucleotide variant Maple syrup urine disease [RCV000914457] Chr1:100196431 [GRCh38]
Chr1:100661987 [GRCh37]
Chr1:1p21.2
likely benign
NM_001918.4(DBT):c.1282-12_1282-9del deletion Maple syrup urine disease [RCV000914190] Chr1:100196431..100196434 [GRCh38]
Chr1:100661987..100661990 [GRCh37]
Chr1:1p21.2
likely benign
NM_001918.4(DBT):c.510A>G (p.Lys170=) single nucleotide variant not provided [RCV000975532] Chr1:100218671 [GRCh38]
Chr1:100684227 [GRCh37]
Chr1:1p21.2
likely benign
NM_001918.4(DBT):c.1282-4C>A single nucleotide variant Maple syrup urine disease [RCV000900921] Chr1:100196426 [GRCh38]
Chr1:100661982 [GRCh37]
Chr1:1p21.2
likely benign
NM_001918.4(DBT):c.420G>A (p.Thr140=) single nucleotide variant Maple syrup urine disease [RCV000942464] Chr1:100230746 [GRCh38]
Chr1:100696302 [GRCh37]
Chr1:1p21.2
likely benign
NM_001918.4(DBT):c.336T>C (p.Ser112=) single nucleotide variant Maple syrup urine disease [RCV000976343] Chr1:100230830 [GRCh38]
Chr1:100696386 [GRCh37]
Chr1:1p21.2
likely benign
NM_001918.4(DBT):c.1282-37_1282-33dup duplication not provided [RCV000973170] Chr1:100196431..100196432 [GRCh38]
Chr1:100661987..100661988 [GRCh37]
Chr1:1p21.2
benign
NM_001918.4(DBT):c.342T>C (p.Tyr114=) single nucleotide variant not provided [RCV000902310] Chr1:100230824 [GRCh38]
Chr1:100696380 [GRCh37]
Chr1:1p21.2
likely benign
NM_001918.4(DBT):c.1264dup (p.Ala422fs) duplication Maple syrup urine disease [RCV001046944] Chr1:100206246..100206247 [GRCh38]
Chr1:100671802..100671803 [GRCh37]
Chr1:1p21.2
likely pathogenic
NM_001918.4(DBT):c.1190C>T (p.Thr397Ile) single nucleotide variant Maple syrup urine disease type 2 [RCV000790387] Chr1:100206464 [GRCh38]
Chr1:100672020 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.1282-5_1282-1del deletion Maple syrup urine disease [RCV000778178] Chr1:100196423..100196427 [GRCh38]
Chr1:100661979..100661983 [GRCh37]
Chr1:1p21.2
uncertain significance
GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3 copy number gain Global developmental delay [RCV000787285] Chr1:103343285..103455144 [GRCh37]
Chr1:1p36.22-21.1
uncertain significance
NM_001918.4(DBT):c.270T>C (p.Asp90=) single nucleotide variant not provided [RCV000930766] Chr1:100230896 [GRCh38]
Chr1:100696452 [GRCh37]
Chr1:1p21.2
likely benign
NM_001918.4(DBT):c.433+10G>A single nucleotide variant Maple syrup urine disease [RCV000980481] Chr1:100230723 [GRCh38]
Chr1:100696279 [GRCh37]
Chr1:1p21.2
likely benign
NM_001918.4(DBT):c.1282-15_1282-9del deletion Maple syrup urine disease [RCV000914712] Chr1:100196431..100196437 [GRCh38]
Chr1:100661987..100661993 [GRCh37]
Chr1:1p21.2
likely benign
NM_001918.4(DBT):c.176-10del deletion not provided [RCV000977004] Chr1:100235521 [GRCh38]
Chr1:100701077 [GRCh37]
Chr1:1p21.2
likely benign
NM_001918.4(DBT):c.1282-37_1282-32dup duplication not provided [RCV000963057] Chr1:100196431..100196432 [GRCh38]
Chr1:100661987..100661988 [GRCh37]
Chr1:1p21.2
benign
NM_001918.4(DBT):c.804T>C (p.Ser268=) single nucleotide variant not provided [RCV000983238] Chr1:100214952 [GRCh38]
Chr1:100680508 [GRCh37]
Chr1:1p21.2
likely benign
NM_001918.4(DBT):c.318T>G (p.Ala106=) single nucleotide variant not provided [RCV000924980] Chr1:100230848 [GRCh38]
Chr1:100696404 [GRCh37]
Chr1:1p21.2
likely benign
NM_001918.4(DBT):c.1282-13_1282-9del deletion Maple syrup urine disease [RCV000896892] Chr1:100196431..100196435 [GRCh38]
Chr1:100661987..100661991 [GRCh37]
Chr1:1p21.2
likely benign
NM_001918.4(DBT):c.300A>G (p.Glu100=) single nucleotide variant Maple syrup urine disease [RCV000975673] Chr1:100230866 [GRCh38]
Chr1:100696422 [GRCh37]
Chr1:1p21.2
likely benign
NM_001918.4(DBT):c.261del (p.Glu88fs) deletion Maple syrup urine disease [RCV000814694] Chr1:100230905 [GRCh38]
Chr1:100696461 [GRCh37]
Chr1:1p21.2
pathogenic
NM_001918.4(DBT):c.673A>C (p.Ile225Leu) single nucleotide variant Maple syrup urine disease [RCV000821362] Chr1:100216082 [GRCh38]
Chr1:100681638 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.1282-37_1282-24dup duplication not provided [RCV000893355] Chr1:100196431..100196432 [GRCh38]
Chr1:100661987..100661988 [GRCh37]
Chr1:1p21.2
benign
NM_001918.4(DBT):c.1110C>T (p.Ile370=) single nucleotide variant Maple syrup urine disease [RCV000892025] Chr1:100206544 [GRCh38]
Chr1:100672100 [GRCh37]
Chr1:1p21.2
likely benign
NM_001918.4(DBT):c.898del (p.Ala300fs) deletion Maple syrup urine disease type 2 [RCV000790386] Chr1:100214858 [GRCh38]
Chr1:100680414 [GRCh37]
Chr1:1p21.2
pathogenic
NM_001918.4(DBT):c.*6771A>G single nucleotide variant Maple syrup urine disease [RCV001098875] Chr1:100189484 [GRCh38]
Chr1:100655040 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.*4425C>A single nucleotide variant Maple syrup urine disease [RCV001098980] Chr1:100191830 [GRCh38]
Chr1:100657386 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.*7690T>C single nucleotide variant Maple syrup urine disease [RCV001097122] Chr1:100188565 [GRCh38]
Chr1:100654121 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.*7469T>C single nucleotide variant Maple syrup urine disease [RCV001097123] Chr1:100188786 [GRCh38]
Chr1:100654342 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.*7698C>T single nucleotide variant Maple syrup urine disease [RCV001097121] Chr1:100188557 [GRCh38]
Chr1:100654113 [GRCh37]
Chr1:1p21.2
likely benign
NM_001918.4(DBT):c.*3240T>A single nucleotide variant Maple syrup urine disease [RCV001097319] Chr1:100193015 [GRCh38]
Chr1:100658571 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.433+300T>G single nucleotide variant not provided [RCV000841077] Chr1:100230433 [GRCh38]
Chr1:100695989 [GRCh37]
Chr1:1p21.2
benign
NM_001918.4(DBT):c.555+276C>A single nucleotide variant not provided [RCV000841078] Chr1:100218350 [GRCh38]
Chr1:100683906 [GRCh37]
Chr1:1p21.2
benign
NM_001918.4(DBT):c.1018-840T>C single nucleotide variant not provided [RCV000841079] Chr1:100207476 [GRCh38]
Chr1:100673032 [GRCh37]
Chr1:1p21.2
benign
NC_000001.11:g.(?_100218757)_(100221872_?)del deletion Maple syrup urine disease [RCV000800034] Chr1:100218757..100221872 [GRCh38]
Chr1:100684313..100687428 [GRCh37]
Chr1:1p21.2
likely pathogenic
NM_001918.4(DBT):c.556-7T>C single nucleotide variant not provided [RCV000827386] Chr1:100216206 [GRCh38]
Chr1:100681762 [GRCh37]
Chr1:1p21.2
likely benign
NM_001918.4(DBT):c.*9123A>G single nucleotide variant Maple syrup urine disease [RCV001098763] Chr1:100187132 [GRCh38]
Chr1:100652688 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.*8830T>C single nucleotide variant Maple syrup urine disease [RCV001098765] Chr1:100187425 [GRCh38]
Chr1:100652981 [GRCh37]
Chr1:1p21.2
uncertain significance
NC_000001.11:g.(?_100196245)_(100196432_?)del deletion Maple syrup urine disease [RCV001031106] Chr1:100661801..100661988 [GRCh37]
Chr1:1p21.2
pathogenic
NC_000001.11:g.(?_100240741)_(100240904_?)del deletion Maple syrup urine disease [RCV001031700] Chr1:100706297..100706460 [GRCh37]
Chr1:1p21.2
pathogenic
NM_001918.4(DBT):c.*9230T>C single nucleotide variant Maple syrup urine disease [RCV001097028] Chr1:100187025 [GRCh38]
Chr1:100652581 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.*4576G>A single nucleotide variant Maple syrup urine disease [RCV001098979] Chr1:100191679 [GRCh38]
Chr1:100657235 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.*3022G>A single nucleotide variant Maple syrup urine disease [RCV001099066] Chr1:100193233 [GRCh38]
Chr1:100658789 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.*2271A>C single nucleotide variant Maple syrup urine disease [RCV001099069] Chr1:100193984 [GRCh38]
Chr1:100659540 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.*2088A>T single nucleotide variant Maple syrup urine disease [RCV001099153] Chr1:100194167 [GRCh38]
Chr1:100659723 [GRCh37]
Chr1:1p21.2
uncertain significance
NC_000001.11:g.100196336_100215732del deletion Maple syrup urine disease [RCV001231087]   likely pathogenic
NM_001918.4(DBT):c.1082dup (p.Asn361fs) duplication Maple syrup urine disease [RCV000986388] Chr1:100206571..100206572 [GRCh38]
Chr1:100672127..100672128 [GRCh37]
Chr1:1p21.2
pathogenic
NM_001918.4(DBT):c.442G>T (p.Glu148Ter) single nucleotide variant Maple syrup urine disease [RCV000986389] Chr1:100218739 [GRCh38]
Chr1:100684295 [GRCh37]
Chr1:1p21.2
likely pathogenic
NC_000001.11:g.(?_100214807)_(100230924_?)del deletion Maple syrup urine disease [RCV001031731] Chr1:100680363..100696480 [GRCh37]
Chr1:1p21.2
pathogenic
NM_001918.5(DBT):c.1171C>T (p.Leu391Phe) single nucleotide variant Maple syrup urine disease [RCV001242841] Chr1:100206483 [GRCh38]
Chr1:100672039 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.*8663T>C single nucleotide variant Maple syrup urine disease [RCV001100595] Chr1:100187592 [GRCh38]
Chr1:100653148 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.*6270A>G single nucleotide variant Maple syrup urine disease [RCV001100689] Chr1:100189985 [GRCh38]
Chr1:100655541 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.*5969C>T single nucleotide variant Maple syrup urine disease [RCV001100690] Chr1:100190286 [GRCh38]
Chr1:100655842 [GRCh37]
Chr1:1p21.2
likely benign
NM_001918.4(DBT):c.*5959A>G single nucleotide variant Maple syrup urine disease [RCV001100691] Chr1:100190296 [GRCh38]
Chr1:100655852 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.*8080C>G single nucleotide variant Maple syrup urine disease [RCV001100872] Chr1:100188175 [GRCh38]
Chr1:100653731 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.*3859T>C single nucleotide variant Maple syrup urine disease [RCV001101046] Chr1:100192396 [GRCh38]
Chr1:100657952 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.*3586A>G single nucleotide variant Maple syrup urine disease [RCV001101049] Chr1:100192669 [GRCh38]
Chr1:100658225 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.*7369G>A single nucleotide variant Maple syrup urine disease [RCV001097124] Chr1:100188886 [GRCh38]
Chr1:100654442 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.*7358C>T single nucleotide variant Maple syrup urine disease [RCV001097125] Chr1:100188897 [GRCh38]
Chr1:100654453 [GRCh37]
Chr1:1p21.2
benign
NM_001918.4(DBT):c.*6413C>T single nucleotide variant Maple syrup urine disease [RCV001098878] Chr1:100189842 [GRCh38]
Chr1:100655398 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.42G>A (p.Ala14=) single nucleotide variant Maple syrup urine disease [RCV000925071] Chr1:100249779 [GRCh38]
Chr1:100715335 [GRCh37]
Chr1:1p21.2
likely benign
NM_001918.4(DBT):c.62G>A (p.Arg21His) single nucleotide variant Maple syrup urine disease [RCV000902742] Chr1:100240874 [GRCh38]
Chr1:100706430 [GRCh37]
Chr1:1p21.2
likely benign
NM_001918.4(DBT):c.1210-18_1210-9del deletion Maple syrup urine disease [RCV000932429] Chr1:100206310..100206319 [GRCh38]
Chr1:100671866..100671875 [GRCh37]
Chr1:1p21.2
likely benign
NM_001918.4(DBT):c.891T>C (p.Ile297=) single nucleotide variant not provided [RCV000932611] Chr1:100214865 [GRCh38]
Chr1:100680421 [GRCh37]
Chr1:1p21.2
likely benign
NM_001918.4(DBT):c.1282-37_1282-34dup duplication not provided [RCV000955242] Chr1:100196431..100196432 [GRCh38]
Chr1:100661987..100661988 [GRCh37]
Chr1:1p21.2
benign
NM_001918.4(DBT):c.1275A>G (p.Ser425=) single nucleotide variant not provided [RCV000929864] Chr1:100206236 [GRCh38]
Chr1:100671792 [GRCh37]
Chr1:1p21.2
likely benign
NM_001918.4(DBT):c.1392C>T (p.Ser464=) single nucleotide variant Maple syrup urine disease [RCV000979391] Chr1:100196312 [GRCh38]
Chr1:100661868 [GRCh37]
Chr1:1p21.2
likely benign
NM_001918.4(DBT):c.*8552A>T single nucleotide variant Maple syrup urine disease [RCV001100596] Chr1:100187703 [GRCh38]
Chr1:100653259 [GRCh37]
Chr1:1p21.2
likely benign
NM_001918.4(DBT):c.*8471T>C single nucleotide variant Maple syrup urine disease [RCV001100597] Chr1:100187784 [GRCh38]
Chr1:100653340 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.*4250C>T single nucleotide variant Maple syrup urine disease [RCV001100789] Chr1:100192005 [GRCh38]
Chr1:100657561 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.*7942G>A single nucleotide variant Maple syrup urine disease [RCV001100874] Chr1:100188313 [GRCh38]
Chr1:100653869 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.*1322C>T single nucleotide variant Maple syrup urine disease [RCV001101147] Chr1:100194933 [GRCh38]
Chr1:100660489 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.*2130G>A single nucleotide variant Maple syrup urine disease [RCV001099150] Chr1:100194125 [GRCh38]
Chr1:100659681 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.*2092A>T single nucleotide variant Maple syrup urine disease [RCV001099152] Chr1:100194163 [GRCh38]
Chr1:100659719 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.*2021C>T single nucleotide variant Maple syrup urine disease [RCV001099154] Chr1:100194234 [GRCh38]
Chr1:100659790 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.5(DBT):c.4G>A (p.Ala2Thr) single nucleotide variant Maple syrup urine disease [RCV001219774] Chr1:100249817 [GRCh38]
Chr1:100715373 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.5(DBT):c.488_489del (p.His163fs) microsatellite Maple syrup urine disease [RCV001223966] Chr1:100218692..100218693 [GRCh38]
Chr1:100684248..100684249 [GRCh37]
Chr1:1p21.2
pathogenic
NM_001918.5(DBT):c.1281+5A>G single nucleotide variant Maple syrup urine disease [RCV001240490] Chr1:100206225 [GRCh38]
Chr1:100671781 [GRCh37]
Chr1:1p21.2
uncertain significance
NC_000001.11:g.100249860A>T single nucleotide variant Maple syrup urine disease [RCV001095805] Chr1:100249860 [GRCh38]
Chr1:100715416 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.5(DBT):c.572T>G (p.Val191Gly) single nucleotide variant Maple syrup urine disease [RCV001241632] Chr1:100216183 [GRCh38]
Chr1:100681739 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.5(DBT):c.391G>A (p.Val131Met) single nucleotide variant Maple syrup urine disease [RCV001198107] Chr1:100230775 [GRCh38]
Chr1:100696331 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.978C>T (p.Asn326=) single nucleotide variant Maple syrup urine disease [RCV000912103] Chr1:100210733 [GRCh38]
Chr1:100676289 [GRCh37]
Chr1:1p21.2
likely benign
NM_001918.4(DBT):c.1282-37_1282-23dup duplication Maple syrup urine disease [RCV000955736] Chr1:100196431..100196432 [GRCh38]
Chr1:100661987..100661988 [GRCh37]
Chr1:1p21.2
benign
GRCh37/hg19 1p21.2(chr1:100704867-101205009)x3 copy number gain not provided [RCV001005123] Chr1:100704867..101205009 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.*4576G>C single nucleotide variant Maple syrup urine disease [RCV001097224] Chr1:100191679 [GRCh38]
Chr1:100657235 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.*2810A>G single nucleotide variant Maple syrup urine disease [RCV001099068] Chr1:100193445 [GRCh38]
Chr1:100659001 [GRCh37]
Chr1:1p21.2
benign
NM_001918.4(DBT):c.*8670A>G single nucleotide variant Maple syrup urine disease [RCV001100594] Chr1:100187585 [GRCh38]
Chr1:100653141 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.*8944A>G single nucleotide variant Maple syrup urine disease [RCV001098764] Chr1:100187311 [GRCh38]
Chr1:100652867 [GRCh37]
Chr1:1p21.2
benign
NM_001918.4(DBT):c.*5784T>C single nucleotide variant Maple syrup urine disease [RCV001100960] Chr1:100190471 [GRCh38]
Chr1:100656027 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.*642T>C single nucleotide variant Maple syrup urine disease [RCV001101149] Chr1:100195613 [GRCh38]
Chr1:100661169 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.*4094C>A single nucleotide variant Maple syrup urine disease [RCV001100791] Chr1:100192161 [GRCh38]
Chr1:100657717 [GRCh37]
Chr1:1p21.2
benign
NM_001918.4(DBT):c.*3995G>T single nucleotide variant Maple syrup urine disease [RCV001100792] Chr1:100192260 [GRCh38]
Chr1:100657816 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.*8083C>T single nucleotide variant Maple syrup urine disease [RCV001100871] Chr1:100188172 [GRCh38]
Chr1:100653728 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.*5347C>T single nucleotide variant Maple syrup urine disease [RCV001100962] Chr1:100190908 [GRCh38]
Chr1:100656464 [GRCh37]
Chr1:1p21.2
benign
NM_001918.4(DBT):c.*3789A>C single nucleotide variant Maple syrup urine disease [RCV001101047] Chr1:100192466 [GRCh38]
Chr1:100658022 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.*918G>T single nucleotide variant Maple syrup urine disease [RCV001101148] Chr1:100195337 [GRCh38]
Chr1:100660893 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.*3693C>G single nucleotide variant Maple syrup urine disease [RCV001101048] Chr1:100192562 [GRCh38]
Chr1:100658118 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.*2119G>A single nucleotide variant Maple syrup urine disease [RCV001099151] Chr1:100194136 [GRCh38]
Chr1:100659692 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.853A>C (p.Thr285Pro) single nucleotide variant Maple syrup urine disease [RCV001069298] Chr1:100214903 [GRCh38]
Chr1:100680459 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.1170T>G (p.Asp390Glu) single nucleotide variant Maple syrup urine disease [RCV001071699] Chr1:100206484 [GRCh38]
Chr1:100672040 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.5(DBT):c.932T>C (p.Phe311Ser) single nucleotide variant Maple syrup urine disease [RCV001205986] Chr1:100214824 [GRCh38]
Chr1:100680380 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.*9228C>T single nucleotide variant Maple syrup urine disease [RCV001097029] Chr1:100187027 [GRCh38]
Chr1:100652583 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.*4864C>T single nucleotide variant Maple syrup urine disease [RCV001097222] Chr1:100191391 [GRCh38]
Chr1:100656947 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.*4688G>T single nucleotide variant Maple syrup urine disease [RCV001097223] Chr1:100191567 [GRCh38]
Chr1:100657123 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.*3245G>A single nucleotide variant Maple syrup urine disease [RCV001097318] Chr1:100193010 [GRCh38]
Chr1:100658566 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.*7223C>T single nucleotide variant Maple syrup urine disease [RCV001097126] Chr1:100189032 [GRCh38]
Chr1:100654588 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.*295G>A single nucleotide variant Maple syrup urine disease [RCV001097489] Chr1:100195960 [GRCh38]
Chr1:100661516 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.*293C>T single nucleotide variant Maple syrup urine disease [RCV001097490] Chr1:100195962 [GRCh38]
Chr1:100661518 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.*64A>G single nucleotide variant Maple syrup urine disease [RCV001097491] Chr1:100196191 [GRCh38]
Chr1:100661747 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.*6902T>A single nucleotide variant Maple syrup urine disease [RCV001098874] Chr1:100189353 [GRCh38]
Chr1:100654909 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.*6771A>C single nucleotide variant Maple syrup urine disease [RCV001098876] Chr1:100189484 [GRCh38]
Chr1:100655040 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.*4237A>C single nucleotide variant Maple syrup urine disease [RCV001100790] Chr1:100192018 [GRCh38]
Chr1:100657574 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.*8074G>A single nucleotide variant Maple syrup urine disease [RCV001100873] Chr1:100188181 [GRCh38]
Chr1:100653737 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.*5380G>C single nucleotide variant Maple syrup urine disease [RCV001100961] Chr1:100190875 [GRCh38]
Chr1:100656431 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.198G>A (p.Gln66=) single nucleotide variant Maple syrup urine disease [RCV001101248] Chr1:100235489 [GRCh38]
Chr1:100701045 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.*4313G>A single nucleotide variant Maple syrup urine disease [RCV001100787] Chr1:100191942 [GRCh38]
Chr1:100657498 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.*8118T>C single nucleotide variant Maple syrup urine disease [RCV001100870] Chr1:100188137 [GRCh38]
Chr1:100653693 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.*1640C>T single nucleotide variant Maple syrup urine disease [RCV001101144] Chr1:100194615 [GRCh38]
Chr1:100660171 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.1364T>C (p.Ile455Thr) single nucleotide variant Maple syrup urine disease [RCV001097492] Chr1:100196340 [GRCh38]
Chr1:100661896 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.*6716C>G single nucleotide variant Maple syrup urine disease [RCV001098877] Chr1:100189539 [GRCh38]
Chr1:100655095 [GRCh37]
Chr1:1p21.2
likely benign
NM_001918.4(DBT):c.*4291C>A single nucleotide variant Maple syrup urine disease [RCV001100788] Chr1:100191964 [GRCh38]
Chr1:100657520 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.*1572A>G single nucleotide variant Maple syrup urine disease [RCV001101145] Chr1:100194683 [GRCh38]
Chr1:100660239 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.4(DBT):c.*1332T>C single nucleotide variant Maple syrup urine disease [RCV001101146] Chr1:100194923 [GRCh38]
Chr1:100660479 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.5(DBT):c.252G>T (p.Trp84Cys) single nucleotide variant Maple syrup urine disease [RCV001255379] Chr1:100230914 [GRCh38]
Chr1:100696470 [GRCh37]
Chr1:1p21.2
pathogenic
NM_001918.5(DBT):c.1209+1G>A single nucleotide variant Maple syrup urine disease [RCV001255380] Chr1:100206444 [GRCh38]
Chr1:100672000 [GRCh37]
Chr1:1p21.2
pathogenic
NM_001918.5(DBT):c.961C>T (p.Gln321Ter) single nucleotide variant Maple syrup urine disease [RCV001263639] Chr1:100210750 [GRCh38]
Chr1:100676306 [GRCh37]
Chr1:1p21.2
likely pathogenic
NM_001918.5(DBT):c.298G>T (p.Glu100Ter) single nucleotide variant Maple syrup urine disease [RCV001263640] Chr1:100230868 [GRCh38]
Chr1:100696424 [GRCh37]
Chr1:1p21.2
likely pathogenic
NM_001918.5(DBT):c.209C>A (p.Ser70Ter) single nucleotide variant Maple syrup urine disease [RCV001263641] Chr1:100235478 [GRCh38]
Chr1:100701034 [GRCh37]
Chr1:1p21.2
likely pathogenic
NM_001918.5(DBT):c.196C>T (p.Gln66Ter) single nucleotide variant Maple syrup urine disease [RCV001263642] Chr1:100235491 [GRCh38]
Chr1:100701047 [GRCh37]
Chr1:1p21.2
likely pathogenic
NM_001918.5(DBT):c.187C>T (p.Gln63Ter) single nucleotide variant Maple syrup urine disease [RCV001263643] Chr1:100235500 [GRCh38]
Chr1:100701056 [GRCh37]
Chr1:1p21.2
likely pathogenic
NM_001918.5(DBT):c.126T>A (p.Tyr42Ter) single nucleotide variant Maple syrup urine disease [RCV001263644] Chr1:100240810 [GRCh38]
Chr1:100706366 [GRCh37]
Chr1:1p21.2
likely pathogenic
NM_001918.5(DBT):c.70C>T (p.Gln24Ter) single nucleotide variant Maple syrup urine disease [RCV001263645] Chr1:100240866 [GRCh38]
Chr1:100706422 [GRCh37]
Chr1:1p21.2
likely pathogenic
NM_001918.5(DBT):c.1208C>A (p.Ser403Ter) single nucleotide variant Maple syrup urine disease [RCV001264214] Chr1:100206446 [GRCh38]
Chr1:100672002 [GRCh37]
Chr1:1p21.2
likely pathogenic
NM_001918.5(DBT):c.1184C>T (p.Thr395Ile) single nucleotide variant Maple syrup urine disease [RCV001255378] Chr1:100206470 [GRCh38]
Chr1:100672026 [GRCh37]
Chr1:1p21.2
likely pathogenic
NM_001918.5(DBT):c.1385G>A (p.Arg462His) single nucleotide variant Maple syrup urine disease [RCV001337652] Chr1:100196319 [GRCh38]
Chr1:100661875 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.5(DBT):c.815A>G (p.Lys272Arg) single nucleotide variant Maple syrup urine disease [RCV001338106] Chr1:100214941 [GRCh38]
Chr1:100680497 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.5(DBT):c.962A>T (p.Gln321Leu) single nucleotide variant Maple syrup urine disease [RCV001347136] Chr1:100210749 [GRCh38]
Chr1:100676305 [GRCh37]
Chr1:1p21.2
uncertain significance
NM_001918.5(DBT):c.34A>G (p.Arg12Gly) single nucleotide variant Maple syrup urine disease [RCV001344280] Chr1:100249787 [GRCh38]
Chr1:100715343 [GRCh37]
Chr1:1p21.2
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:2698 AgrOrtholog
COSMIC DBT COSMIC
Ensembl Genes ENSG00000137992 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000359150 UniProtKB/TrEMBL
  ENSP00000359151 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000505780 ENTREZGENE
Ensembl Transcript ENST00000370131 UniProtKB/TrEMBL
  ENST00000370132 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000681780 ENTREZGENE
Gene3D-CATH 3.30.559.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  4.10.320.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000137992 GTEx
HGNC ID HGNC:2698 ENTREZGENE
Human Proteome Map DBT Human Proteome Map
InterPro 2-oxoA_DH_lipoyl-BS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2-oxoacid_DH_actylTfrase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Biotin_lipoyl UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CAT-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  E3-bd_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PSBD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Single_hybrid_motif UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:1629 UniProtKB/Swiss-Prot
NCBI Gene 1629 ENTREZGENE
OMIM 248600 OMIM
  248610 OMIM
Pfam 2-oxoacid_dh UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Biotin_lipoyl UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  E3_binding UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA27167 PharmGKB
PROSITE BIOTINYL_LIPOYL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LIPOYL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PSBD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF47005 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF51230 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt ODB2_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q5VVL7_HUMAN UniProtKB/TrEMBL
UniProt Secondary B2R811 UniProtKB/Swiss-Prot
  Q5VVL8 UniProtKB/Swiss-Prot