BCKDHB (branched chain keto acid dehydrogenase E1 subunit beta) - Rat Genome Database

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Gene: BCKDHB (branched chain keto acid dehydrogenase E1 subunit beta) Homo sapiens
Analyze
Symbol: BCKDHB
Name: branched chain keto acid dehydrogenase E1 subunit beta
RGD ID: 1351460
HGNC Page HGNC
Description: Contributes to 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity. Involved in branched-chain amino acid catabolic process. Located in mitochondrial alpha-ketoglutarate dehydrogenase complex and nucleolus. Implicated in maple syrup urine disease.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: 2-oxoisovalerate dehydrogenase beta subunit; 2-oxoisovalerate dehydrogenase subunit beta, mitochondrial; BCKDE1B; BCKDH E1-beta; branched chain alpha-ketoacid dehydrogenase E1-beta subunit; branched chain keto acid dehydrogenase E1 beta; branched chain keto acid dehydrogenase E1, beta polypeptide; branched-chain alpha-keto acid dehydrogenase E1 component beta chain; dJ279A18.1; E1B; E1b-beta subunit of the branched-chain complex; FLJ17880; testis secretory sperm-binding protein Li 240mP
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 Ensembl680,106,647 - 80,346,270 (+)EnsemblGRCh38hg38GRCh38
GRCh38680,106,610 - 80,469,088 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37680,816,327 - 81,055,987 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36680,873,083 - 81,112,706 (+)NCBINCBI36hg18NCBI36
Build 34680,873,082 - 81,112,706NCBI
Celera681,237,906 - 81,477,561 (+)NCBI
Cytogenetic Map6q14.1NCBI
HuRef678,039,157 - 78,278,814 (+)NCBIHuRef
CHM1_1680,913,790 - 81,153,760 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

References

Additional References at PubMed
PMID:1860867   PMID:1889817   PMID:2335211   PMID:2365818   PMID:3593587   PMID:7672509   PMID:7918575   PMID:8161368   PMID:8651316   PMID:10745006   PMID:11509994   PMID:11839747  
PMID:12477932   PMID:12902323   PMID:14702039   PMID:14742428   PMID:15166214   PMID:15489334   PMID:15576032   PMID:16472748   PMID:17329260   PMID:17524396   PMID:17922217   PMID:18378174  
PMID:19480318   PMID:20301495   PMID:20379614   PMID:20877624   PMID:21145461   PMID:21873635   PMID:22326532   PMID:22593002   PMID:23313820   PMID:23400010   PMID:23563607   PMID:26186194  
PMID:26217791   PMID:26239723   PMID:26389662   PMID:26453840   PMID:26496610   PMID:26830710   PMID:27173435   PMID:27499296   PMID:27880917   PMID:28330616   PMID:28380382   PMID:28514442  
PMID:29306928   PMID:29307017   PMID:29568061   PMID:30166453   PMID:30298494   PMID:30463901   PMID:31056398   PMID:31536960   PMID:31723608   PMID:31753913   PMID:31796584   PMID:32515140  
PMID:33853758   PMID:33957083   PMID:33961781   PMID:34511290  


Genomics

Comparative Map Data
BCKDHB
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl680,106,647 - 80,346,270 (+)EnsemblGRCh38hg38GRCh38
GRCh38680,106,610 - 80,469,088 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37680,816,327 - 81,055,987 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36680,873,083 - 81,112,706 (+)NCBINCBI36hg18NCBI36
Build 34680,873,082 - 81,112,706NCBI
Celera681,237,906 - 81,477,561 (+)NCBI
Cytogenetic Map6q14.1NCBI
HuRef678,039,157 - 78,278,814 (+)NCBIHuRef
CHM1_1680,913,790 - 81,153,760 (+)NCBICHM1_1
Bckdhb
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39983,807,164 - 84,006,293 (+)NCBIGRCm39mm39
GRCm39 Ensembl983,807,198 - 84,006,293 (+)Ensembl
GRCm38983,925,111 - 84,124,240 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl983,925,145 - 84,124,240 (+)EnsemblGRCm38mm10GRCm38
MGSCv37983,842,388 - 84,017,847 (+)NCBIGRCm37mm9NCBIm37
MGSCv36983,745,499 - 83,920,958 (+)NCBImm8
Celera981,044,884 - 81,213,851 (+)NCBICelera
Cytogenetic Map9E2NCBI
Bckdhb
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2884,845,264 - 85,027,812 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl884,845,264 - 85,027,812 (+)Ensembl
Rnor_6.0891,464,229 - 91,656,134 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl891,464,229 - 91,656,134 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0890,982,516 - 91,173,706 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4888,997,979 - 89,191,017 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1889,017,545 - 89,210,461 (+)NCBI
Celera884,492,980 - 84,673,845 (+)NCBICelera
RH 3.4 Map8981.4RGD
Cytogenetic Map8q31NCBI
Bckdhb
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554118,437,548 - 8,628,363 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554118,427,875 - 8,626,564 (+)NCBIChiLan1.0ChiLan1.0
BCKDHB
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1681,277,085 - 81,516,787 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl681,276,836 - 81,516,787 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0678,005,287 - 78,246,287 (+)NCBIMhudiblu_PPA_v0panPan3
BCKDHB
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11241,009,798 - 41,224,802 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1241,009,730 - 41,224,802 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1240,881,519 - 41,096,408 (+)NCBI
ROS_Cfam_1.01241,775,384 - 41,991,512 (+)NCBI
UMICH_Zoey_3.11241,088,764 - 41,303,619 (+)NCBI
UNSW_CanFamBas_1.01241,063,571 - 41,271,816 (+)NCBI
UU_Cfam_GSD_1.01241,216,793 - 41,431,727 (+)NCBI
Bckdhb
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494676,389,357 - 76,568,118 (+)NCBI
SpeTri2.0NW_0049365109,904,703 - 10,081,532 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
BCKDHB
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl185,715,203 - 86,017,600 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1185,755,819 - 86,017,661 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2196,353,433 - 96,716,539 (-)NCBISscrofa10.2Sscrofa10.2susScr3
BCKDHB
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1134,845,481 - 5,087,558 (+)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl134,845,457 - 5,087,745 (+)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_023666040181,063,803 - 181,307,482 (+)NCBIVero_WHO_p1.0
Bckdhb
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462479914,182,951 - 14,368,568 (-)NCBIHetGla_female_1.0hetGla2

Position Markers
SHGC-36275  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37680,939,201 - 80,939,300UniSTSGRCh37
Build 36680,995,920 - 80,996,019RGDNCBI36
Celera681,360,779 - 81,360,878RGD
Cytogenetic Map6q14.1UniSTS
HuRef678,162,031 - 78,162,130UniSTS
Stanford-G3 RH Map63659.0UniSTS
GeneMap99-G3 RH Map63965.0UniSTS
D6S1856  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37680,991,179 - 80,991,521UniSTSGRCh37
GRCh37680,991,385 - 80,991,521UniSTSGRCh37
Build 36681,048,104 - 81,048,240RGDNCBI36
Celera681,412,959 - 81,413,095RGD
Celera681,412,753 - 81,413,095UniSTS
HuRef678,214,012 - 78,214,354UniSTS
HuRef678,214,218 - 78,214,354UniSTS
Stanford-G3 RH Map63650.0UniSTS
GeneMap99-GB4 RH Map6367.96UniSTS
Whitehead-RH Map6537.5UniSTS
Whitehead-YAC Contig Map6 UniSTS
GeneMap99-G3 RH Map63956.0UniSTS
RH102720  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37680,954,869 - 80,955,030UniSTSGRCh37
Build 36681,011,588 - 81,011,749RGDNCBI36
Celera681,376,447 - 81,376,608RGD
Cytogenetic Map6q14.1UniSTS
HuRef678,177,703 - 78,177,864UniSTS
GeneMap99-GB4 RH Map6367.68UniSTS
SHGC-132178  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37680,991,317 - 80,991,521UniSTSGRCh37
Build 36681,048,036 - 81,048,240RGDNCBI36
Celera681,412,891 - 81,413,095RGD
Cytogenetic Map6q14.1UniSTS
HuRef678,214,150 - 78,214,354UniSTS
RH46797  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37680,991,317 - 80,991,454UniSTSGRCh37
Build 36681,048,036 - 81,048,173RGDNCBI36
Celera681,412,891 - 81,413,028RGD
Cytogenetic Map6q14.1UniSTS
HuRef678,214,150 - 78,214,287UniSTS
GeneMap99-GB4 RH Map6367.9UniSTS
A005P24  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37681,055,699 - 81,055,956UniSTSGRCh37
Build 36681,112,418 - 81,112,675RGDNCBI36
Celera681,477,273 - 81,477,530RGD
Cytogenetic Map6q14.1UniSTS
HuRef678,278,526 - 78,278,783UniSTS
GeneMap99-GB4 RH Map6355.18UniSTS
RH15773  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37681,053,378 - 81,053,514UniSTSGRCh37
Build 36681,110,097 - 81,110,233RGDNCBI36
Celera681,474,957 - 81,475,093RGD
Cytogenetic Map6q14.1UniSTS
HuRef678,276,210 - 78,276,346UniSTS
GeneMap99-GB4 RH Map6355.28UniSTS
D6S1762  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37681,053,563 - 81,053,663UniSTSGRCh37
Build 36681,110,282 - 81,110,382RGDNCBI36
Celera681,475,142 - 81,475,242RGD
Cytogenetic Map6q14.1UniSTS
HuRef678,276,395 - 78,276,495UniSTS
Whitehead-YAC Contig Map6 UniSTS
L17705  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map15q22.3UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map9p13.3-p12UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map4q21.23UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic MapXq21.1UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map14q21UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map5q21UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map17q25.2UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map1p21.3UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map19q13.13UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map18q21.31UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map1p36-p35UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map11q12UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic MapXq21.3UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map19qUniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map4p16UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map12q14.2UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map3q21.3UniSTS
L17809  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map5q21UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic Map1q31UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map4p15.31UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map14q21UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map3p21.32UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map19qUniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map9q34.13UniSTS
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
L17877  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map6p22UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map4p15.31UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic MapXq21.1UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map18q21.31UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map20pter-q12UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map9q21.3UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map8q13.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map19qUniSTS
Cytogenetic Map4p16UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map12q14.2UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map18q12.2UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map17q25.3UniSTS
D8S2279  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.12UniSTS
Cytogenetic Map15q13UniSTS
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Cytogenetic Map1q21.2-q21.3UniSTS
Cytogenetic Map1p36.12UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map6q25.2-q27UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map3q28-q29UniSTS
Cytogenetic Map7p14-p13UniSTS
Cytogenetic Map12q24.2UniSTS
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map7q22-qterUniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map1q32.2-q41UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map5p15.1-p14.3UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map6q22-q23UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map3p12.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map14q21UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map2q24UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map3q28UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic MapXq22.2UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map7p15.1UniSTS
Cytogenetic Map2q37.2UniSTS
Cytogenetic Map18q22.3UniSTS
Cytogenetic Map14q32.13UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map16p13.1UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map20q13.2-q13.3UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map13q13.3UniSTS
Cytogenetic Map10p12.31UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map5q33.2UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map8q21.2UniSTS
Cytogenetic Map2q24.1UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map2q23.3UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map14q31UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map8p12-p11UniSTS
Cytogenetic Map18p11.2UniSTS
Cytogenetic Map7p11.1UniSTS
Cytogenetic Map1q31-q32UniSTS
Cytogenetic Map2q12UniSTS
Cytogenetic Map3p21.32UniSTS
Cytogenetic Map2p24.2UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map6q24.1UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map7p13-p12UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map17q11-q21UniSTS
Cytogenetic Map12q23UniSTS
Cytogenetic Map6p24-p22.3UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map7q31.1-q31.2UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map3p26.1-p25.1UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map6q16.3UniSTS
Cytogenetic Map17q24-q25UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic MapXq27.1UniSTS
Cytogenetic Map8q12.3UniSTS
Cytogenetic Map5q21.2UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map4q35.2UniSTS
Cytogenetic Map3p26.1UniSTS
Cytogenetic Map3p11.1UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map2q21.2UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map18q12.3UniSTS
Cytogenetic Map18p11.3UniSTS
Cytogenetic Map17q11.1UniSTS
Cytogenetic Map15q25.1UniSTS
Cytogenetic Map13q12.3UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map12q12-q13UniSTS
Cytogenetic Map12q14UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map2q32-q34UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map19q13.33-q13.41UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map6q23-q24UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map2p13UniSTS
Cytogenetic Map13q11-q12UniSTS
Cytogenetic Map6p12.3-p11.2UniSTS
Cytogenetic Map6q16.1-q16.3UniSTS
Cytogenetic Map22q11UniSTS
Cytogenetic Map7q31.2UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map3q25.2UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map3q23-q24UniSTS
Cytogenetic Map3q12UniSTS
Cytogenetic Map7q11.1UniSTS
Cytogenetic Map3q22.3UniSTS
Cytogenetic Map7q21.3UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map22q12-q13UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map18q21.3UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map1q24.3UniSTS
Cytogenetic Map9q33.1UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map2p16.2UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map4q21UniSTS
Cytogenetic Map13q12.2UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map1q23UniSTS
Cytogenetic Map11q12-q13UniSTS
Cytogenetic Map11q13.3UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map11q12.1UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map8p21UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map7q36.2UniSTS
Cytogenetic Map4q32.3UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map10q26.1UniSTS
Cytogenetic Map9q32-q33.3UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q31-q34UniSTS
Cytogenetic Map9q33-q34UniSTS
Cytogenetic Map5q11.2-q13.2UniSTS
Cytogenetic Map13q32UniSTS
Cytogenetic Map9q22.32UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map5q22UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic MapXq13.3UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map3p26.3UniSTS
Cytogenetic Map2q11.1UniSTS
Cytogenetic Map21q11.2UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map12q24.23UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map2q31.1-q31.2UniSTS
Cytogenetic MapXp22.31UniSTS
Cytogenetic MapXp21.3UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map3q24UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map14q11.2-q12UniSTS
Cytogenetic Map3p24UniSTS
Cytogenetic Map12q23.3UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map11q14.3UniSTS
Cytogenetic Map10q25.2UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map8q13UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map8q23.3UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map11cen-q12UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map12q21UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map7q22-q31UniSTS
Cytogenetic Map11q22UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map1p35-p34UniSTS
Cytogenetic Map4p13-p12UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map9q31-q34UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map13q12.12UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1pUniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map2qUniSTS
Cytogenetic Map5q13.1UniSTS
Cytogenetic Map11p14.1UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map2p22UniSTS
Cytogenetic Map5q14.3UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map2p24.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map9p21.1UniSTS
Cytogenetic Map9q34.2-q34.3UniSTS
G32255  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37681,055,699 - 81,055,956UniSTSGRCh37
Celera681,477,273 - 81,477,530UniSTS
Cytogenetic Map6q14.1UniSTS
HuRef678,278,526 - 78,278,783UniSTS
D6S1866  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map6q14.1UniSTS
Stanford-G3 RH Map63642.0UniSTS
GeneMap99-GB4 RH Map6368.65UniSTS
Whitehead-YAC Contig Map6 UniSTS
GeneMap99-G3 RH Map63948.0UniSTS
D6S1856  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map6q14.1UniSTS
Stanford-G3 RH Map63650.0UniSTS
GeneMap99-G3 RH Map63956.0UniSTS
D6S1856  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map6q14.1UniSTS
GeneMap99-GB4 RH Map6367.96UniSTS
Whitehead-RH Map6537.5UniSTS
Whitehead-YAC Contig Map6 UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2772
Count of miRNA genes:812
Interacting mature miRNAs:946
Transcripts:ENST00000320393, ENST00000356489, ENST00000369760, ENST00000468520, ENST00000486968, ENST00000491328, ENST00000545529
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 1848 1426 1296 502 798 378 2426 815 1517 280 1188 1027 133 860 1431 3
Low 591 1292 430 122 892 87 1928 1370 2216 137 272 586 41 1 344 1356 3 2
Below cutoff 272 261 2 12 1 2 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_009775 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000056 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001318975 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_183050 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_134945 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005248756 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011536023 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011536024 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011536025 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001743546 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001743547 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001743548 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001743549 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002956292 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AK126122 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK289977 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK304353 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310838 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK316545 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL049696 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL359715 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL391595 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC034481 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC040139 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BJ997585 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM553932 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT020063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX640688 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA447889 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471051 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D90391 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB548202 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC372349 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC422376 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM005653 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF458208 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KP869067 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M55575 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT021983 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT021984 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT021985 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT021986 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT021987 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT021988 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT021989 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT021990 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT021991 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT021992 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT021993 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT021994 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT021995 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT021996 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OA988645 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U50708 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U51015 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U51016 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X52446 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000320393   ⟹   ENSP00000318351
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl680,106,671 - 80,346,270 (+)Ensembl
RefSeq Acc Id: ENST00000356489   ⟹   ENSP00000348880
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl680,106,647 - 80,346,254 (+)Ensembl
RefSeq Acc Id: ENST00000369760   ⟹   ENSP00000358775
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl680,106,647 - 80,169,873 (+)Ensembl
RefSeq Acc Id: ENST00000468520
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl680,203,102 - 80,273,190 (+)Ensembl
RefSeq Acc Id: ENST00000486968
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl680,127,269 - 80,135,887 (+)Ensembl
RefSeq Acc Id: ENST00000491328
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl680,343,571 - 80,346,254 (+)Ensembl
RefSeq Acc Id: NM_000056   ⟹   NP_000047
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38680,106,671 - 80,346,270 (+)NCBI
GRCh37680,816,344 - 81,055,987 (+)ENTREZGENE
Build 36680,873,083 - 81,112,706 (+)NCBI Archive
HuRef678,039,157 - 78,278,814 (+)ENTREZGENE
CHM1_1680,913,773 - 81,153,760 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001318975   ⟹   NP_001305904
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38680,106,610 - 80,346,270 (+)NCBI
CHM1_1680,913,773 - 81,153,760 (+)NCBI
Sequence:
RefSeq Acc Id: NM_183050   ⟹   NP_898871
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38680,106,671 - 80,346,270 (+)NCBI
GRCh37680,816,344 - 81,055,987 (+)ENTREZGENE
Build 36680,873,083 - 81,112,706 (+)NCBI Archive
HuRef678,039,157 - 78,278,814 (+)ENTREZGENE
CHM1_1680,913,773 - 81,153,760 (+)NCBI
Sequence:
RefSeq Acc Id: NR_134945
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38680,106,671 - 80,346,270 (+)NCBI
CHM1_1680,913,773 - 81,153,760 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005248756   ⟹   XP_005248813
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38680,106,664 - 80,307,588 (+)NCBI
GRCh37680,816,344 - 81,055,987 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011536023   ⟹   XP_011534325
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38680,106,664 - 80,277,690 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011536024   ⟹   XP_011534326
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38680,106,664 - 80,346,270 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011536025   ⟹   XP_011534327
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38680,106,664 - 80,290,629 (+)NCBI
Sequence:
RefSeq Acc Id: XR_001743546
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38680,106,664 - 80,469,088 (+)NCBI
Sequence:
RefSeq Acc Id: XR_001743547
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38680,106,664 - 80,469,088 (+)NCBI
Sequence:
RefSeq Acc Id: XR_001743548
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38680,106,664 - 80,469,088 (+)NCBI
Sequence:
RefSeq Acc Id: XR_001743549
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38680,106,664 - 80,469,088 (+)NCBI
Sequence:
RefSeq Acc Id: XR_002956292
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38680,106,664 - 80,469,088 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_000047 (Get FASTA)   NCBI Sequence Viewer  
  NP_001305904 (Get FASTA)   NCBI Sequence Viewer  
  NP_898871 (Get FASTA)   NCBI Sequence Viewer  
  XP_005248813 (Get FASTA)   NCBI Sequence Viewer  
  XP_011534325 (Get FASTA)   NCBI Sequence Viewer  
  XP_011534326 (Get FASTA)   NCBI Sequence Viewer  
  XP_011534327 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA51812 (Get FASTA)   NCBI Sequence Viewer  
  AAB09779 (Get FASTA)   NCBI Sequence Viewer  
  AAB09780 (Get FASTA)   NCBI Sequence Viewer  
  AAB16763 (Get FASTA)   NCBI Sequence Viewer  
  AAH34481 (Get FASTA)   NCBI Sequence Viewer  
  AAH40139 (Get FASTA)   NCBI Sequence Viewer  
  AAV38866 (Get FASTA)   NCBI Sequence Viewer  
  AEE61250 (Get FASTA)   NCBI Sequence Viewer  
  ALA62332 (Get FASTA)   NCBI Sequence Viewer  
  BAA14389 (Get FASTA)   NCBI Sequence Viewer  
  BAF82666 (Get FASTA)   NCBI Sequence Viewer  
  BAG65195 (Get FASTA)   NCBI Sequence Viewer  
  BAH14916 (Get FASTA)   NCBI Sequence Viewer  
  CAA36685 (Get FASTA)   NCBI Sequence Viewer  
  EAW48696 (Get FASTA)   NCBI Sequence Viewer  
  EAW48697 (Get FASTA)   NCBI Sequence Viewer  
  EAW48698 (Get FASTA)   NCBI Sequence Viewer  
  P21953 (Get FASTA)   NCBI Sequence Viewer  
  QVG60129 (Get FASTA)   NCBI Sequence Viewer  
  QVG60130 (Get FASTA)   NCBI Sequence Viewer  
  QVG60131 (Get FASTA)   NCBI Sequence Viewer  
  QVG60132 (Get FASTA)   NCBI Sequence Viewer  
  QVG60133 (Get FASTA)   NCBI Sequence Viewer  
  QVG60134 (Get FASTA)   NCBI Sequence Viewer  
  QVG60135 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_898871   ⟸   NM_183050
- Peptide Label: isoform 1 precursor
- UniProtKB: P21953 (UniProtKB/Swiss-Prot),   A0A140VKB3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_000047   ⟸   NM_000056
- Peptide Label: isoform 1 precursor
- UniProtKB: P21953 (UniProtKB/Swiss-Prot),   A0A140VKB3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005248813   ⟸   XM_005248756
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011534326   ⟸   XM_011536024
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011534327   ⟸   XM_011536025
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_011534325   ⟸   XM_011536023
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: NP_001305904   ⟸   NM_001318975
- Peptide Label: isoform 2
- UniProtKB: P21953 (UniProtKB/Swiss-Prot),   B4E2N3 (UniProtKB/TrEMBL),   B7ZB80 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000318351   ⟸   ENST00000320393
RefSeq Acc Id: ENSP00000358775   ⟸   ENST00000369760
RefSeq Acc Id: ENSP00000348880   ⟸   ENST00000356489
Protein Domains
Transket_pyr

Promoters
RGD ID:7208575
Promoter ID:EPDNEW_H10029
Type:initiation region
Name:BCKDHB_1
Description:branched chain keto acid dehydrogenase E1 subunit beta
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38680,106,671 - 80,106,731EPDNEW
RGD ID:6803797
Promoter ID:HG_KWN:54191
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:NM_000056,   NM_183050,   OTTHUMT00000043909
Position:
Human AssemblyChrPosition (strand)Source
Build 36680,872,726 - 80,873,226 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_183050.4(BCKDHB):c.498G>C (p.Lys166Asn) single nucleotide variant not provided [RCV000727895] Chr6:80168895 [GRCh38]
Chr6:80878612 [GRCh37]
Chr6:6q14.1
uncertain significance
BCKDHB, 11-BP DEL deletion MAPLE SYRUP URINE DISEASE, CLASSIC, TYPE IB [RCV000012714] Chr6:6q14 pathogenic
NM_183050.2(BCKDHB):c.1039-7_1039-4delTCTG deletion MAPLE SYRUP URINE DISEASE, CLASSIC, TYPE IB [RCV000012718] Chr6:6q14 pathogenic
BCKDHB, 8-BP INS, NT1109 insertion MAPLE SYRUP URINE DISEASE, CLASSIC, TYPE IB [RCV000012719] Chr6:6q14 pathogenic
NM_183050.4(BCKDHB):c.548G>C (p.Arg183Pro) single nucleotide variant MAPLE SYRUP URINE DISEASE, CLASSIC, TYPE IB [RCV000012715]|Maple syrup urine disease [RCV000056008]|Maple syrup urine disease type 1B [RCV000589206]|not provided [RCV000082754] Chr6:80168945 [GRCh38]
Chr6:80878662 [GRCh37]
Chr6:6q14.1
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_183050.4(BCKDHB):c.616C>T (p.His206Tyr) single nucleotide variant MAPLE SYRUP URINE DISEASE, CLASSIC, TYPE IB [RCV000012716] Chr6:80169013 [GRCh38]
Chr6:80878730 [GRCh37]
Chr6:6q14.1
pathogenic
NM_183050.4(BCKDHB):c.356T>G (p.Val119Gly) single nucleotide variant MAPLE SYRUP URINE DISEASE, CLASSIC, TYPE IB [RCV000012717] Chr6:80167690 [GRCh38]
Chr6:80877407 [GRCh37]
Chr6:6q14.1
pathogenic
NM_000056.3(BCKDHB):c.344-14318C>T single nucleotide variant Lung cancer [RCV000097196] Chr6:80153360 [GRCh38]
Chr6:80863077 [GRCh37]
Chr6:6q14.1
uncertain significance
NM_000056.3(BCKDHB):c.951+20624G>T single nucleotide variant Lung cancer [RCV000097197] Chr6:80223836 [GRCh38]
Chr6:80933553 [GRCh37]
Chr6:6q14.1
uncertain significance
NM_183050.4(BCKDHB):c.951+27209A>G single nucleotide variant Maple syrup urine disease [RCV000667770] Chr6:80230421 [GRCh38]
Chr6:80940138 [GRCh37]
Chr6:6q14.1
likely benign|uncertain significance
GRCh38/hg38 6q14.1(chr6:80332710-81126767)x1 copy number loss See cases [RCV000052617] Chr6:80332710..81126767 [GRCh38]
Chr6:81042427..81836484 [GRCh37]
Chr6:81099146..81893203 [NCBI36]
Chr6:6q14.1
uncertain significance
NM_183050.4(BCKDHB):c.1114G>T (p.Glu372Ter) single nucleotide variant Maple syrup urine disease [RCV000056007]|not provided [RCV000790721] Chr6:80343739 [GRCh38]
Chr6:81053456 [GRCh37]
Chr6:6q14.1
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|not provided
NM_183050.4(BCKDHB):c.832G>A (p.Gly278Ser) single nucleotide variant Maple syrup urine disease [RCV000056009]|Maple syrup urine disease type 1B [RCV000587416]|not provided [RCV000762424] Chr6:80201023 [GRCh38]
Chr6:80910740 [GRCh37]
Chr6:6q14.1
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_183050.4(BCKDHB):c.*13G>A single nucleotide variant Maple syrup urine disease [RCV000673471]|not provided [RCV000082718] Chr6:80343817 [GRCh38]
Chr6:81053534 [GRCh37]
Chr6:6q14.1
uncertain significance
NM_183050.4(BCKDHB):c.1006G>A (p.Gly336Ser) single nucleotide variant Maple syrup urine disease [RCV000674620]|Maple syrup urine disease type 1B [RCV000587204]|not provided [RCV000082719] Chr6:80273189 [GRCh38]
Chr6:80982906 [GRCh37]
Chr6:6q14.1
pathogenic|likely pathogenic|uncertain significance
NM_183050.4(BCKDHB):c.1016C>T (p.Ser339Leu) single nucleotide variant Maple syrup urine disease [RCV001052144]|not provided [RCV000180715] Chr6:80273199 [GRCh38]
Chr6:80982916 [GRCh37]
Chr6:6q14.1
pathogenic
NM_183050.4(BCKDHB):c.1046G>A (p.Cys349Tyr) single nucleotide variant Maple syrup urine disease [RCV000173927]|not provided [RCV000790712] Chr6:80343671 [GRCh38]
Chr6:81053388 [GRCh37]
Chr6:6q14.1
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_183050.4(BCKDHB):c.1057C>G (p.Leu353Val) single nucleotide variant not provided [RCV000082722] Chr6:80343682 [GRCh38]
Chr6:81053399 [GRCh37]
Chr6:6q14.1
uncertain significance
NM_183050.4(BCKDHB):c.1063G>C (p.Ala355Pro) single nucleotide variant not provided [RCV000082723] Chr6:80343688 [GRCh38]
Chr6:81053405 [GRCh37]
Chr6:6q14.1
uncertain significance
NM_183050.4(BCKDHB):c.1077A>C (p.Arg359Ser) single nucleotide variant not provided [RCV000082724] Chr6:80343702 [GRCh38]
Chr6:81053419 [GRCh37]
Chr6:6q14.1
uncertain significance
NM_183050.4(BCKDHB):c.1087T>A (p.Tyr363Asn) single nucleotide variant Maple syrup urine disease [RCV000811483]|not provided [RCV000082725] Chr6:80343712 [GRCh38]
Chr6:81053429 [GRCh37]
Chr6:6q14.1
pathogenic|uncertain significance
NM_183050.4(BCKDHB):c.1147T>G (p.Tyr383Asp) single nucleotide variant not provided [RCV000082727] Chr6:80343772 [GRCh38]
Chr6:81053489 [GRCh37]
Chr6:6q14.1
uncertain significance
NM_183050.4(BCKDHB):c.158A>C (p.His53Pro) single nucleotide variant not provided [RCV000082728] Chr6:80106851 [GRCh38]
Chr6:80816568 [GRCh37]
Chr6:6q14.1
uncertain significance
NM_183050.4(BCKDHB):c.196+5G>A single nucleotide variant not provided [RCV000082729] Chr6:80106894 [GRCh38]
Chr6:80816611 [GRCh37]
Chr6:6q14.1
uncertain significance
NM_183050.4(BCKDHB):c.197-11G>T single nucleotide variant Maple syrup urine disease [RCV000290906]|not specified [RCV000082730] Chr6:80127536 [GRCh38]
Chr6:80837253 [GRCh37]
Chr6:6q14.1
benign
NM_183050.4(BCKDHB):c.197-25A>G single nucleotide variant Maple syrup urine disease [RCV001530488]|not provided [RCV001596957]|not specified [RCV000082731] Chr6:80127522 [GRCh38]
Chr6:80837239 [GRCh37]
Chr6:6q14.1
benign
NM_183050.4(BCKDHB):c.197-30A>C single nucleotide variant not specified [RCV000082732] Chr6:80127517 [GRCh38]
Chr6:80837234 [GRCh37]
Chr6:6q14.1
benign
NM_183050.4(BCKDHB):c.269C>T (p.Thr90Ile) single nucleotide variant not provided [RCV000082733] Chr6:80127619 [GRCh38]
Chr6:80837336 [GRCh37]
Chr6:6q14.1
uncertain significance
NM_183050.4(BCKDHB):c.302G>A (p.Gly101Asp) single nucleotide variant Maple syrup urine disease [RCV001162146]|not provided [RCV000177427] Chr6:80129188 [GRCh38]
Chr6:80838905 [GRCh37]
Chr6:6q14.1
likely pathogenic|uncertain significance
NM_183050.4(BCKDHB):c.331C>G (p.Arg111Gly) single nucleotide variant not provided [RCV000082735] Chr6:80129217 [GRCh38]
Chr6:80838934 [GRCh37]
Chr6:6q14.1
uncertain significance
NM_183050.4(BCKDHB):c.33_34del (p.Leu12fs) deletion Maple syrup urine disease [RCV000173587]|not provided [RCV000790710] Chr6:80106726..80106727 [GRCh38]
Chr6:80816443..80816444 [GRCh37]
Chr6:6q14.1
pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_183050.4(BCKDHB):c.342T>G (p.Tyr114Ter) single nucleotide variant Maple syrup urine disease [RCV000177426]|not provided [RCV000790829] Chr6:80129228 [GRCh38]
Chr6:80838945 [GRCh37]
Chr6:6q14.1
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_183050.4(BCKDHB):c.344-1G>A single nucleotide variant not provided [RCV000178407] Chr6:80167677 [GRCh38]
Chr6:80877394 [GRCh37]
Chr6:6q14.1
pathogenic
NM_183050.4(BCKDHB):c.344-24C>T single nucleotide variant Maple syrup urine disease [RCV001530490]|not provided [RCV001539801]|not specified [RCV000082739] Chr6:80167654 [GRCh38]
Chr6:80877371 [GRCh37]
Chr6:6q14.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_183050.4(BCKDHB):c.365C>T (p.Thr122Ile) single nucleotide variant Maple syrup urine disease [RCV000529039]|not provided [RCV000082740] Chr6:80167699 [GRCh38]
Chr6:80877416 [GRCh37]
Chr6:6q14.1
uncertain significance
NM_183050.4(BCKDHB):c.479T>G (p.Ile160Ser) single nucleotide variant not provided [RCV000179044] Chr6:80168876 [GRCh38]
Chr6:80878593 [GRCh37]
Chr6:6q14.1
likely pathogenic
NM_183050.4(BCKDHB):c.488A>T (p.Glu163Val) single nucleotide variant not provided [RCV000179046] Chr6:80168885 [GRCh38]
Chr6:80878602 [GRCh37]
Chr6:6q14.1
pathogenic
NM_183050.4(BCKDHB):c.493G>C (p.Ala165Pro) single nucleotide variant not provided [RCV000082743] Chr6:80168890 [GRCh38]
Chr6:80878607 [GRCh37]
Chr6:6q14.1
uncertain significance
NM_183050.4(BCKDHB):c.502C>T (p.Arg168Cys) single nucleotide variant Maple syrup urine disease [RCV000818306]|not provided [RCV000082744] Chr6:80168899 [GRCh38]
Chr6:80878616 [GRCh37]
Chr6:6q14.1
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_183050.4(BCKDHB):c.506A>G (p.Tyr169Cys) single nucleotide variant Maple syrup urine disease [RCV001040696]|not provided [RCV000082745] Chr6:80168903 [GRCh38]
Chr6:80878620 [GRCh37]
Chr6:6q14.1
likely pathogenic|uncertain significance
NM_183050.4(BCKDHB):c.508C>A (p.Arg170Ser) single nucleotide variant not provided [RCV000179040] Chr6:80168905 [GRCh38]
Chr6:80878622 [GRCh37]
Chr6:6q14.1
likely pathogenic
NM_183050.4(BCKDHB):c.508C>G (p.Arg170Gly) single nucleotide variant not provided [RCV000179045] Chr6:80168905 [GRCh38]
Chr6:80878622 [GRCh37]
Chr6:6q14.1
likely pathogenic
NM_183050.4(BCKDHB):c.508C>T (p.Arg170Cys) single nucleotide variant Maple syrup urine disease [RCV000179043]|not provided [RCV000790692] Chr6:80168905 [GRCh38]
Chr6:80878622 [GRCh37]
Chr6:6q14.1
pathogenic|likely pathogenic
NM_183050.4(BCKDHB):c.509G>A (p.Arg170His) single nucleotide variant Maple syrup urine disease [RCV000179047]|not provided [RCV000082749] Chr6:80168906 [GRCh38]
Chr6:80878623 [GRCh37]
Chr6:6q14.1
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_183050.4(BCKDHB):c.509G>C (p.Arg170Pro) single nucleotide variant Maple syrup urine disease [RCV000631889]|not provided [RCV000082750] Chr6:80168906 [GRCh38]
Chr6:80878623 [GRCh37]
Chr6:6q14.1
uncertain significance
NM_183050.4(BCKDHB):c.526A>T (p.Asn176Tyr) single nucleotide variant Maple syrup urine disease [RCV001202851]|not provided [RCV000179049] Chr6:80168923 [GRCh38]
Chr6:80878640 [GRCh37]
Chr6:6q14.1
pathogenic|likely pathogenic
NM_183050.4(BCKDHB):c.529T>C (p.Cys177Arg) single nucleotide variant not provided [RCV000082752] Chr6:80168926 [GRCh38]
Chr6:80878643 [GRCh37]
Chr6:6q14.1
uncertain significance
NM_183050.4(BCKDHB):c.547C>T (p.Arg183Trp) single nucleotide variant not provided [RCV000082753] Chr6:80168944 [GRCh38]
Chr6:80878661 [GRCh37]
Chr6:6q14.1
likely pathogenic
NM_183050.4(BCKDHB):c.574G>A (p.Gly192Arg) single nucleotide variant not provided [RCV000082755] Chr6:80168971 [GRCh38]
Chr6:80878688 [GRCh37]
Chr6:6q14.1
uncertain significance
NM_183050.4(BCKDHB):c.587A>T (p.His196Leu) single nucleotide variant not provided [RCV000082756] Chr6:80168984 [GRCh38]
Chr6:80878701 [GRCh37]
Chr6:6q14.1
uncertain significance
NM_183050.4(BCKDHB):c.592_593del (p.Gln198fs) deletion not provided [RCV000179042] Chr6:80168989..80168990 [GRCh38]
Chr6:80878706..80878707 [GRCh37]
Chr6:6q14.1
pathogenic
NM_183050.4(BCKDHB):c.595_596del (p.Ser199_Pro200insTer) microsatellite Maple syrup urine disease [RCV000179041]|Maple syrup urine disease type 1B [RCV000780959]|not provided [RCV000790691] Chr6:80168990..80168991 [GRCh38]
Chr6:80878707..80878708 [GRCh37]
Chr6:6q14.1
pathogenic
NM_183050.4(BCKDHB):c.605C>T (p.Ala202Val) single nucleotide variant not provided [RCV000082759] Chr6:80169002 [GRCh38]
Chr6:80878719 [GRCh37]
Chr6:6q14.1
uncertain significance
NM_183050.4(BCKDHB):c.633+16T>C single nucleotide variant not provided [RCV000082760] Chr6:80169046 [GRCh38]
Chr6:80878763 [GRCh37]
Chr6:6q14.1
uncertain significance
NM_183050.4(BCKDHB):c.633+1G>A single nucleotide variant Maple syrup urine disease [RCV000811119]|not provided [RCV000179048] Chr6:80169031 [GRCh38]
Chr6:80878748 [GRCh37]
Chr6:6q14.1
pathogenic
NM_183050.4(BCKDHB):c.634-32T>C single nucleotide variant not specified [RCV000082762] Chr6:80171250 [GRCh38]
Chr6:80880967 [GRCh37]
Chr6:6q14.1
likely benign
NM_183050.4(BCKDHB):c.674T>C (p.Leu225Pro) single nucleotide variant Maple syrup urine disease [RCV001283856]|not provided [RCV000082763] Chr6:80171322 [GRCh38]
Chr6:80881039 [GRCh37]
Chr6:6q14.1
uncertain significance
NM_183050.4(BCKDHB):c.727C>T (p.Leu243Phe) single nucleotide variant Maple syrup urine disease [RCV000670677]|not provided [RCV000082764]|not specified [RCV001193354] Chr6:80171375 [GRCh38]
Chr6:80881092 [GRCh37]
Chr6:6q14.1
uncertain significance
NM_183050.4(BCKDHB):c.742+16A>G single nucleotide variant not provided [RCV000723411]|not specified [RCV001731370] Chr6:80171406 [GRCh38]
Chr6:80881123 [GRCh37]
Chr6:6q14.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_183050.4(BCKDHB):c.748G>T (p.Glu250Ter) single nucleotide variant Maple syrup urine disease [RCV001047777]|not provided [RCV000180017] Chr6:80200939 [GRCh38]
Chr6:80910656 [GRCh37]
Chr6:6q14.1
pathogenic
NM_183050.4(BCKDHB):c.752T>C (p.Val251Ala) single nucleotide variant Maple syrup urine disease [RCV000180018]|Maple syrup urine disease type 1B [RCV000586350]|not provided [RCV000790839] Chr6:80200943 [GRCh38]
Chr6:80910660 [GRCh37]
Chr6:6q14.1
pathogenic|likely pathogenic
NM_183050.4(BCKDHB):c.799C>T (p.Gln267Ter) single nucleotide variant Maple syrup urine disease [RCV000169389]|not provided [RCV000790821] Chr6:80200990 [GRCh38]
Chr6:80910707 [GRCh37]
Chr6:6q14.1
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_183050.4(BCKDHB):c.817A>C (p.Thr273Pro) single nucleotide variant not provided [RCV000082769] Chr6:80201008 [GRCh38]
Chr6:80910725 [GRCh37]
Chr6:6q14.1
uncertain significance
NM_183050.4(BCKDHB):c.840+2T>G single nucleotide variant Maple syrup urine disease [RCV000180019]|not provided [RCV000790653] Chr6:80201033 [GRCh38]
Chr6:80910750 [GRCh37]
Chr6:6q14.1
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_183050.4(BCKDHB):c.840+33A>G single nucleotide variant not specified [RCV000082772] Chr6:80201064 [GRCh38]
Chr6:80910781 [GRCh37]
Chr6:6q14.1
likely benign
NM_183050.4(BCKDHB):c.841-73C>T single nucleotide variant Maple syrup urine disease [RCV001530491]|not provided [RCV001711265]|not specified [RCV000082773] Chr6:80203029 [GRCh38]
Chr6:80912746 [GRCh37]
Chr6:6q14.1
benign
NM_183050.4(BCKDHB):c.845A>G (p.His282Arg) single nucleotide variant not provided [RCV000082774] Chr6:80203106 [GRCh38]
Chr6:80912823 [GRCh37]
Chr6:6q14.1
uncertain significance
NM_183050.4(BCKDHB):c.853C>T (p.Arg285Ter) single nucleotide variant Maple syrup urine disease [RCV000169304]|Maple syrup urine disease type 1B [RCV001193356]|not provided [RCV000790747] Chr6:80203114 [GRCh38]
Chr6:80912831 [GRCh37]
Chr6:6q14.1
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_183050.4(BCKDHB):c.885del (p.Gly296fs) deletion Maple syrup urine disease [RCV001240186] Chr6:80203145 [GRCh38]
Chr6:80912862 [GRCh37]
Chr6:6q14.1
pathogenic|conflicting interpretations of pathogenicity
NM_183050.4(BCKDHB):c.902T>G (p.Val301Gly) single nucleotide variant not provided [RCV000180384] Chr6:80203163 [GRCh38]
Chr6:80912880 [GRCh37]
Chr6:6q14.1
likely pathogenic
NM_183050.4(BCKDHB):c.93_103del (p.Ala32fs) microsatellite MAPLE SYRUP URINE DISEASE, CLASSIC, TYPE IB [RCV000012714]|Maple syrup urine disease [RCV001390112]|Maple syrup urine disease type 1B [RCV000780961]|not provided [RCV000173586] Chr6:80106773..80106783 [GRCh38]
Chr6:80816490..80816500 [GRCh37]
Chr6:6q14.1
pathogenic
NM_183050.4(BCKDHB):c.951+48C>T single nucleotide variant Maple syrup urine disease [RCV001530492]|not provided [RCV001650935]|not specified [RCV000082779] Chr6:80203260 [GRCh38]
Chr6:80912977 [GRCh37]
Chr6:6q14.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_183050.4(BCKDHB):c.952-1G>A single nucleotide variant not provided [RCV000180714] Chr6:80273134 [GRCh38]
Chr6:80982851 [GRCh37]
Chr6:6q14.1
pathogenic
NM_183050.4(BCKDHB):c.970C>T (p.Arg324Ter) single nucleotide variant Maple syrup urine disease [RCV000169351]|Maple syrup urine disease type 1B [RCV000779833]|not provided [RCV000790773] Chr6:80273153 [GRCh38]
Chr6:80982870 [GRCh37]
Chr6:6q14.1
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_183050.4(BCKDHB):c.974T>G (p.Leu325Arg) single nucleotide variant Maple syrup urine disease [RCV000346636]|not provided [RCV000790833] Chr6:80273157 [GRCh38]
Chr6:80982874 [GRCh37]
Chr6:6q14.1
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_183050.4(BCKDHB):c.866C>T (p.Ser289Phe) single nucleotide variant Maple syrup urine disease [RCV001349186] Chr6:80203127 [GRCh38]
Chr6:80912844 [GRCh37]
Chr6:6q14.1
uncertain significance
GRCh38/hg38 6q14.1(chr6:80173984-80425274)x1 copy number loss See cases [RCV000134880] Chr6:80173984..80425274 [GRCh38]
Chr6:80883701..81134991 [GRCh37]
Chr6:80940420..81191710 [NCBI36]
Chr6:6q14.1
benign
GRCh38/hg38 6q14.1-14.2(chr6:78912019-84096427)x1 copy number loss See cases [RCV000137752] Chr6:78912019..84096427 [GRCh38]
Chr6:79621736..84806146 [GRCh37]
Chr6:79678455..84862865 [NCBI36]
Chr6:6q14.1-14.2
uncertain significance
GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3 copy number gain See cases [RCV000139729] Chr6:74382807..142040500 [GRCh38]
Chr6:75092523..142361637 [GRCh37]
Chr6:75149243..142403330 [NCBI36]
Chr6:6q13-24.1
pathogenic
GRCh38/hg38 6q12-14.2(chr6:64549655-83426791)x1 copy number loss See cases [RCV000142527] Chr6:64549655..83426791 [GRCh38]
Chr6:65259548..84136510 [GRCh37]
Chr6:65316269..84193229 [NCBI36]
Chr6:6q12-14.2
pathogenic
GRCh38/hg38 6q14.1(chr6:78661176-80245532)x1 copy number loss See cases [RCV000143199] Chr6:78661176..80245532 [GRCh38]
Chr6:79370893..80955249 [GRCh37]
Chr6:79427612..81011968 [NCBI36]
Chr6:6q14.1
uncertain significance
GRCh38/hg38 6q14.1-16.1(chr6:75926199-92710793)x1 copy number loss See cases [RCV000143505] Chr6:75926199..92710793 [GRCh38]
Chr6:76635916..93420511 [GRCh37]
Chr6:76692636..93477232 [NCBI36]
Chr6:6q14.1-16.1
pathogenic
NM_183050.4(BCKDHB):c.1144T>C (p.Cys382Arg) single nucleotide variant Maple syrup urine disease [RCV001261643]|not provided [RCV000152850] Chr6:80343769 [GRCh38]
Chr6:81053486 [GRCh37]
Chr6:6q14.1
likely pathogenic|uncertain significance
NM_183050.4(BCKDHB):c.93_103dup (p.Phe35fs) microsatellite Maple syrup urine disease [RCV000169513]|Maple syrup urine disease type 1B [RCV000589099] Chr6:80106772..80106773 [GRCh38]
Chr6:80816489..80816490 [GRCh37]
Chr6:6q14.1
pathogenic|likely pathogenic
NM_183050.4(BCKDHB):c.*1444T>C single nucleotide variant Maple syrup urine disease [RCV000260047] Chr6:80345248 [GRCh38]
Chr6:81054965 [GRCh37]
Chr6:6q14.1
benign
NM_183050.4(BCKDHB):c.1119del (p.Phe374fs) deletion Maple syrup urine disease type 1B [RCV000193073] Chr6:80343744 [GRCh38]
Chr6:81053461 [GRCh37]
Chr6:6q14.1
likely pathogenic
NM_183050.4(BCKDHB):c.1022T>A (p.Ile341Asn) single nucleotide variant Maple syrup urine disease [RCV000209023]|not provided [RCV000185797] Chr6:80273205 [GRCh38]
Chr6:80982922 [GRCh37]
Chr6:6q14.1
pathogenic|likely pathogenic
NM_183050.3(BCKDHB):c.641T>A (p.Ile214Lys) single nucleotide variant not provided [RCV000185798] Chr6:80171289 [GRCh38]
Chr6:80881006 [GRCh37]
Chr6:6q14.1
pathogenic
NM_183050.4(BCKDHB):c.51A>C (p.Ala17=) single nucleotide variant Maple syrup urine disease [RCV000269861]|not provided [RCV000327459] Chr6:80106744 [GRCh38]
Chr6:80816461 [GRCh37]
Chr6:6q14.1
conflicting interpretations of pathogenicity|uncertain significance
NM_183050.4(BCKDHB):c.744G>A (p.Ala248=) single nucleotide variant Maple syrup urine disease [RCV001080961]|not provided [RCV000755846] Chr6:80200935 [GRCh38]
Chr6:80910652 [GRCh37]
Chr6:6q14.1
likely benign|conflicting interpretations of pathogenicity
NM_001318975.1(BCKDHB):c.-70_-15+207del deletion Maple syrup urine disease [RCV000209157] Chr6:80106627..80106889 [GRCh38]
Chr6:80816344..80816606 [GRCh37]
Chr6:6q14.1
pathogenic
NM_183050.4(BCKDHB):c.293T>G (p.Val98Gly) single nucleotide variant Maple syrup urine disease [RCV000209422] Chr6:80129179 [GRCh38]
Chr6:80838896 [GRCh37]
Chr6:6q14.1
pathogenic|conflicting interpretations of pathogenicity
NM_183050.4(BCKDHB):c.197-2A>G single nucleotide variant Maple syrup urine disease [RCV000209460] Chr6:80127545 [GRCh38]
Chr6:80837262 [GRCh37]
Chr6:6q14.1
pathogenic
NM_183050.4(BCKDHB):c.1065del (p.Pro356fs) deletion Maple syrup urine disease [RCV000209501] Chr6:80343690 [GRCh38]
Chr6:81053407 [GRCh37]
Chr6:6q14.1
pathogenic
NM_183050.4(BCKDHB):c.964A>G (p.Thr322Ala) single nucleotide variant Maple syrup urine disease [RCV000209523] Chr6:80273147 [GRCh38]
Chr6:80982864 [GRCh37]
Chr6:6q14.1
pathogenic|likely pathogenic
NM_183050.4(BCKDHB):c.3G>A (p.Met1Ile) single nucleotide variant Maple syrup urine disease [RCV000209790] Chr6:80106696 [GRCh38]
Chr6:80816413 [GRCh37]
Chr6:6q14.1
pathogenic
NM_183050.4(BCKDHB):c.401T>A (p.Ile134Asn) single nucleotide variant Maple syrup urine disease [RCV000209826] Chr6:80167735 [GRCh38]
Chr6:80877452 [GRCh37]
Chr6:6q14.1
pathogenic
NM_183050.4(BCKDHB):c.554C>T (p.Pro185Leu) single nucleotide variant Maple syrup urine disease [RCV000209747] Chr6:80168951 [GRCh38]
Chr6:80878668 [GRCh37]
Chr6:6q14.1
pathogenic
GRCh38/hg38 6q14.1(chr6:80425171-80657032)x3 copy number gain See cases [RCV000138477] Chr6:80425171..80657032 [GRCh38]
Chr6:81134888..81366749 [GRCh37]
Chr6:81191607..81423468 [NCBI36]
Chr6:6q14.1
likely benign
NM_183050.4(BCKDHB):c.517G>T (p.Asp173Tyr) single nucleotide variant Maple syrup urine disease [RCV000669545] Chr6:80168914 [GRCh38]
Chr6:80878631 [GRCh37]
Chr6:6q14.1
uncertain significance
NM_183050.4(BCKDHB):c.348del (p.Asp117fs) deletion Maple syrup urine disease [RCV000548346] Chr6:80167679 [GRCh38]
Chr6:80877396 [GRCh37]
Chr6:6q14.1
pathogenic
NM_183050.4(BCKDHB):c.503G>A (p.Arg168His) single nucleotide variant Maple syrup urine disease [RCV000553115] Chr6:80168900 [GRCh38]
Chr6:80878617 [GRCh37]
Chr6:6q14.1
pathogenic|likely pathogenic
NM_183050.4(BCKDHB):c.86C>T (p.Ala29Val) single nucleotide variant Maple syrup urine disease [RCV000901604]|not specified [RCV000246746] Chr6:80106779 [GRCh38]
Chr6:80816496 [GRCh37]
Chr6:6q14.1
likely benign
NM_183050.4(BCKDHB):c.197-11del deletion Maple syrup urine disease [RCV001514344]|not specified [RCV000247883] Chr6:80127536 [GRCh38]
Chr6:80837253 [GRCh37]
Chr6:6q14.1
benign
NM_183050.4(BCKDHB):c.*763G>A single nucleotide variant Maple syrup urine disease [RCV000374865] Chr6:80344567 [GRCh38]
Chr6:81054284 [GRCh37]
Chr6:6q14.1
benign|uncertain significance
NM_183050.4(BCKDHB):c.*1142C>G single nucleotide variant Maple syrup urine disease [RCV000397289] Chr6:80344946 [GRCh38]
Chr6:81054663 [GRCh37]
Chr6:6q14.1
benign
NM_183050.4(BCKDHB):c.1031C>T (p.Thr344Ile) single nucleotide variant Maple syrup urine disease [RCV000398163] Chr6:80273214 [GRCh38]
Chr6:80982931 [GRCh37]
Chr6:6q14.1
uncertain significance
NM_183050.4(BCKDHB):c.245A>G (p.Asp82Gly) single nucleotide variant Maple syrup urine disease [RCV000322424]|Maple syrup urine disease type 1B [RCV001280517] Chr6:80127595 [GRCh38]
Chr6:80837312 [GRCh37]
Chr6:6q14.1
uncertain significance
NM_001318975.1(BCKDHB):c.-45C>T single nucleotide variant Maple syrup urine disease [RCV000370178] Chr6:80106653 [GRCh38]
Chr6:80816370 [GRCh37]
Chr6:6q14.1
uncertain significance
NM_183050.4(BCKDHB):c.*922A>G single nucleotide variant Maple syrup urine disease [RCV000397290] Chr6:80344726 [GRCh38]
Chr6:81054443 [GRCh37]
Chr6:6q14.1
uncertain significance
NM_183050.4(BCKDHB):c.*731C>T single nucleotide variant Maple syrup urine disease [RCV000315644] Chr6:80344535 [GRCh38]
Chr6:81054252 [GRCh37]
Chr6:6q14.1
benign
NM_183050.4(BCKDHB):c.*627T>C single nucleotide variant Maple syrup urine disease [RCV000324200] Chr6:80344431 [GRCh38]
Chr6:81054148 [GRCh37]
Chr6:6q14.1
benign
NM_183050.4(BCKDHB):c.51A>G (p.Ala17=) single nucleotide variant Maple syrup urine disease [RCV000324921]|not provided [RCV001727704]|not specified [RCV000419989] Chr6:80106744 [GRCh38]
Chr6:80816461 [GRCh37]
Chr6:6q14.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_183050.4(BCKDHB):c.*1010A>G single nucleotide variant Maple syrup urine disease [RCV000347503] Chr6:80344814 [GRCh38]
Chr6:81054531 [GRCh37]
Chr6:6q14.1
uncertain significance
NM_183050.4(BCKDHB):c.*236G>A single nucleotide variant Maple syrup urine disease [RCV000398165]|not provided [RCV001653710] Chr6:80344040 [GRCh38]
Chr6:81053757 [GRCh37]
Chr6:6q14.1
benign|likely benign
NM_183050.4(BCKDHB):c.*304G>A single nucleotide variant Maple syrup urine disease [RCV000348834]|not provided [RCV001613189] Chr6:80344108 [GRCh38]
Chr6:81053825 [GRCh37]
Chr6:6q14.1
benign
NM_183050.4(BCKDHB):c.*1158T>G single nucleotide variant Maple syrup urine disease [RCV000303378] Chr6:80344962 [GRCh38]
Chr6:81054679 [GRCh37]
Chr6:6q14.1
benign|likely benign
NM_183050.4(BCKDHB):c.*805T>C single nucleotide variant Maple syrup urine disease [RCV000349945] Chr6:80344609 [GRCh38]
Chr6:81054326 [GRCh37]
Chr6:6q14.1
benign
NM_183050.4(BCKDHB):c.*1778A>G single nucleotide variant Maple syrup urine disease [RCV000374633] Chr6:80345582 [GRCh38]
Chr6:81055299 [GRCh37]
Chr6:6q14.1
benign
NM_183050.4(BCKDHB):c.*2282C>T single nucleotide variant Maple syrup urine disease [RCV000289821]|not provided [RCV001653711] Chr6:80346086 [GRCh38]
Chr6:81055803 [GRCh37]
Chr6:6q14.1
benign
NM_183050.4(BCKDHB):c.*994G>A single nucleotide variant Maple syrup urine disease [RCV000306621] Chr6:80344798 [GRCh38]
Chr6:81054515 [GRCh37]
Chr6:6q14.1
benign
NM_183050.4(BCKDHB):c.*921C>T single nucleotide variant Maple syrup urine disease [RCV000350925] Chr6:80344725 [GRCh38]
Chr6:81054442 [GRCh37]
Chr6:6q14.1
uncertain significance
NM_183050.4(BCKDHB):c.*1241A>G single nucleotide variant Maple syrup urine disease [RCV000304701] Chr6:80345045 [GRCh38]
Chr6:81054762 [GRCh37]
Chr6:6q14.1
benign
NM_183050.4(BCKDHB):c.*644C>T single nucleotide variant Maple syrup urine disease [RCV000378786] Chr6:80344448 [GRCh38]
Chr6:81054165 [GRCh37]
Chr6:6q14.1
uncertain significance
NM_183050.4(BCKDHB):c.*1810T>C single nucleotide variant Maple syrup urine disease [RCV000330559] Chr6:80345614 [GRCh38]
Chr6:81055331 [GRCh37]
Chr6:6q14.1
benign
NM_183050.4(BCKDHB):c.*1315G>A single nucleotide variant Maple syrup urine disease [RCV000354880] Chr6:80345119 [GRCh38]
Chr6:81054836 [GRCh37]
Chr6:6q14.1
uncertain significance
NM_183050.4(BCKDHB):c.*1798C>T single nucleotide variant Maple syrup urine disease [RCV000275417] Chr6:80345602 [GRCh38]
Chr6:81055319 [GRCh37]
Chr6:6q14.1
likely benign|uncertain significance
NM_183050.4(BCKDHB):c.*2271G>A single nucleotide variant Maple syrup urine disease [RCV000381873]|not provided [RCV001643083] Chr6:80346075 [GRCh38]
Chr6:81055792 [GRCh37]
Chr6:6q14.1
benign
NM_183050.4(BCKDHB):c.*440A>T single nucleotide variant Maple syrup urine disease [RCV000363971] Chr6:80344244 [GRCh38]
Chr6:81053961 [GRCh37]
Chr6:6q14.1
benign|likely benign
NM_183050.4(BCKDHB):c.*726A>G single nucleotide variant Maple syrup urine disease [RCV000260441] Chr6:80344530 [GRCh38]
Chr6:81054247 [GRCh37]
Chr6:6q14.1
benign|likely benign
NM_183050.4(BCKDHB):c.*293T>C single nucleotide variant Maple syrup urine disease [RCV000312717]|not provided [RCV001672682] Chr6:80344097 [GRCh38]
Chr6:81053814 [GRCh37]
Chr6:6q14.1
benign
NM_183050.4(BCKDHB):c.63G>T (p.Gly21=) single nucleotide variant Maple syrup urine disease [RCV000385257]|not specified [RCV000602894] Chr6:80106756 [GRCh38]
Chr6:80816473 [GRCh37]
Chr6:6q14.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_183050.4(BCKDHB):c.*832C>T single nucleotide variant Maple syrup urine disease [RCV000385706] Chr6:80344636 [GRCh38]
Chr6:81054353 [GRCh37]
Chr6:6q14.1
benign
NM_183050.4(BCKDHB):c.*345C>T single nucleotide variant Maple syrup urine disease [RCV000389995] Chr6:80344149 [GRCh38]
Chr6:81053866 [GRCh37]
Chr6:6q14.1
benign
NM_183050.4(BCKDHB):c.*83C>T single nucleotide variant Maple syrup urine disease [RCV000279018] Chr6:80343887 [GRCh38]
Chr6:81053604 [GRCh37]
Chr6:6q14.1
likely benign|uncertain significance
NM_183050.4(BCKDHB):c.*1892T>C single nucleotide variant Maple syrup urine disease [RCV000295762] Chr6:80345696 [GRCh38]
Chr6:81055413 [GRCh37]
Chr6:6q14.1
benign
NM_183050.4(BCKDHB):c.*395G>T single nucleotide variant Maple syrup urine disease [RCV000314077] Chr6:80344199 [GRCh38]
Chr6:81053916 [GRCh37]
Chr6:6q14.1
benign
NM_183050.4(BCKDHB):c.*121G>A single nucleotide variant Maple syrup urine disease [RCV000338517]|not provided [RCV001675869] Chr6:80343925 [GRCh38]
Chr6:81053642 [GRCh37]
Chr6:6q14.1
benign
NM_183050.4(BCKDHB):c.*559_*560del deletion Maple syrup urine disease [RCV000264302] Chr6:80344349..80344350 [GRCh38]
Chr6:81054066..81054067 [GRCh37]
Chr6:6q14.1
benign
NM_183050.4(BCKDHB):c.*789C>T single nucleotide variant Maple syrup urine disease [RCV000280897] Chr6:80344593 [GRCh38]
Chr6:81054310 [GRCh37]
Chr6:6q14.1
benign
NM_183050.4(BCKDHB):c.*1875G>A single nucleotide variant Maple syrup urine disease [RCV000389776] Chr6:80345679 [GRCh38]
Chr6:81055396 [GRCh37]
Chr6:6q14.1
benign
NM_183050.4(BCKDHB):c.987C>T (p.His329=) single nucleotide variant Maple syrup urine disease [RCV000342150]|not specified [RCV000602885] Chr6:80273170 [GRCh38]
Chr6:80982887 [GRCh37]
Chr6:6q14.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_183050.4(BCKDHB):c.*1554C>G single nucleotide variant Maple syrup urine disease [RCV000319868] Chr6:80345358 [GRCh38]
Chr6:81055075 [GRCh37]
Chr6:6q14.1
uncertain significance
NM_183050.4(BCKDHB):c.290A>T (p.Asp97Val) single nucleotide variant not provided [RCV000392751] Chr6:80129176 [GRCh38]
Chr6:80838893 [GRCh37]
Chr6:6q14.1
likely pathogenic
NM_183050.4(BCKDHB):c.*1239dup duplication Maple syrup urine disease [RCV000268095] Chr6:80345037..80345038 [GRCh38]
Chr6:81054754..81054755 [GRCh37]
Chr6:6q14.1
uncertain significance
NM_183050.4(BCKDHB):c.*466G>T single nucleotide variant Maple syrup urine disease [RCV000269465] Chr6:80344270 [GRCh38]
Chr6:81053987 [GRCh37]
Chr6:6q14.1
uncertain significance
NM_183050.4(BCKDHB):c.1168A>G (p.Ile390Val) single nucleotide variant not provided [RCV000490228] Chr6:80343793 [GRCh38]
Chr6:81053510 [GRCh37]
Chr6:6q14.1
uncertain significance
NM_183050.4(BCKDHB):c.368del (p.Pro123fs) deletion Maple syrup urine disease [RCV000490444] Chr6:80167699 [GRCh38]
Chr6:80877416 [GRCh37]
Chr6:6q14.1
pathogenic|likely pathogenic
NM_183050.4(BCKDHB):c.*896A>G single nucleotide variant Maple syrup urine disease [RCV000296179] Chr6:80344700 [GRCh38]
Chr6:81054417 [GRCh37]
Chr6:6q14.1
uncertain significance
NM_183050.4(BCKDHB):c.*560dup duplication Maple syrup urine disease [RCV000308883] Chr6:80344348..80344349 [GRCh38]
Chr6:81054065..81054066 [GRCh37]
Chr6:6q14.1
uncertain significance
NM_183050.4(BCKDHB):c.*1162T>C single nucleotide variant Maple syrup urine disease [RCV000358129] Chr6:80344966 [GRCh38]
Chr6:81054683 [GRCh37]
Chr6:6q14.1
uncertain significance
NM_183050.4(BCKDHB):c.*559_*560dup duplication Maple syrup urine disease [RCV000358977] Chr6:80344348..80344349 [GRCh38]
Chr6:81054065..81054066 [GRCh37]
Chr6:6q14.1
uncertain significance
NM_183050.4(BCKDHB):c.*2224dup duplication Maple syrup urine disease [RCV000343637] Chr6:80346019..80346020 [GRCh38]
Chr6:81055736..81055737 [GRCh37]
Chr6:6q14.1
uncertain significance
NM_183050.4(BCKDHB):c.275-2A>G single nucleotide variant Maple syrup urine disease [RCV000671012]|not provided [RCV000523329] Chr6:80129159 [GRCh38]
Chr6:80838876 [GRCh37]
Chr6:6q14.1
pathogenic|likely pathogenic
NM_183050.4(BCKDHB):c.403G>A (p.Gly135Arg) single nucleotide variant Maple syrup urine disease type 1B [RCV000589594]|not provided [RCV000732154] Chr6:80167737 [GRCh38]
Chr6:80877454 [GRCh37]
Chr6:6q14.1
pathogenic|likely pathogenic
NM_183050.4(BCKDHB):c.97del (p.Arg33fs) deletion Maple syrup urine disease [RCV000409161] Chr6:80106790 [GRCh38]
Chr6:80816507 [GRCh37]
Chr6:6q14.1
likely pathogenic
NM_183050.4(BCKDHB):c.79_89del (p.Pro27fs) deletion Maple syrup urine disease [RCV000410202] Chr6:80106772..80106782 [GRCh38]
Chr6:80816489..80816499 [GRCh37]
Chr6:6q14.1
pathogenic|likely pathogenic
NM_183050.4(BCKDHB):c.853del (p.Arg285fs) deletion Maple syrup urine disease [RCV000410450] Chr6:80203113 [GRCh38]
Chr6:80912830 [GRCh37]
Chr6:6q14.1
likely pathogenic
NM_183050.4(BCKDHB):c.840+1G>A single nucleotide variant Maple syrup urine disease [RCV000411423] Chr6:80201032 [GRCh38]
Chr6:80910749 [GRCh37]
Chr6:6q14.1
likely pathogenic
NM_183050.4(BCKDHB):c.840+1G>T single nucleotide variant Maple syrup urine disease [RCV000411637]|not provided [RCV000578568] Chr6:80201032 [GRCh38]
Chr6:80910749 [GRCh37]
Chr6:6q14.1
pathogenic|likely pathogenic
NM_183050.4(BCKDHB):c.410C>T (p.Ala137Val) single nucleotide variant Maple syrup urine disease [RCV000410485] Chr6:80167744 [GRCh38]
Chr6:80877461 [GRCh37]
Chr6:6q14.1
pathogenic|likely pathogenic
NM_183050.4(BCKDHB):c.18_27del (p.Ala7fs) deletion Maple syrup urine disease [RCV000411585] Chr6:80106707..80106716 [GRCh38]
Chr6:80816424..80816433 [GRCh37]
Chr6:6q14.1
likely pathogenic
NM_183050.4(BCKDHB):c.730del (p.Tyr244fs) deletion Maple syrup urine disease [RCV000411844] Chr6:80171376 [GRCh38]
Chr6:80881093 [GRCh37]
Chr6:6q14.1
likely pathogenic
NM_183050.4(BCKDHB):c.139_149del (p.Gln47fs) deletion Maple syrup urine disease [RCV000411913] Chr6:80106832..80106842 [GRCh38]
Chr6:80816549..80816559 [GRCh37]
Chr6:6q14.1
likely pathogenic
NM_183050.4(BCKDHB):c.487G>T (p.Glu163Ter) single nucleotide variant Maple syrup urine disease [RCV000409047]|Maple syrup urine disease type 1B [RCV000780960] Chr6:80168884 [GRCh38]
Chr6:80878601 [GRCh37]
Chr6:6q14.1
pathogenic
NM_183050.4(BCKDHB):c.368C>T (p.Pro123Leu) single nucleotide variant not provided [RCV000729477] Chr6:80167702 [GRCh38]
Chr6:80877419 [GRCh37]
Chr6:6q14.1
uncertain significance
NM_183050.4(BCKDHB):c.1090G>A (p.Asp364Asn) single nucleotide variant Maple syrup urine disease [RCV000449516] Chr6:80343715 [GRCh38]
Chr6:81053432 [GRCh37]
Chr6:6q14.1
likely pathogenic
NM_183050.4(BCKDHB):c.365C>A (p.Thr122Asn) single nucleotide variant Maple syrup urine disease [RCV000449606] Chr6:80167699 [GRCh38]
Chr6:80877416 [GRCh37]
Chr6:6q14.1
likely pathogenic|uncertain significance
NM_183050.4(BCKDHB):c.742+7A>T single nucleotide variant Maple syrup urine disease [RCV000541838]|not specified [RCV000427244] Chr6:80171397 [GRCh38]
Chr6:80881114 [GRCh37]
Chr6:6q14.1
benign|likely benign
NM_183050.4(BCKDHB):c.122C>T (p.Thr41Ile) single nucleotide variant Maple syrup urine disease [RCV000872414]|Maple syrup urine disease type 1B [RCV001273014]|not specified [RCV000421289] Chr6:80106815 [GRCh38]
Chr6:80816532 [GRCh37]
Chr6:6q14.1
benign|likely benign
NM_183050.4(BCKDHB):c.1014A>G (p.Ala338=) single nucleotide variant Maple syrup urine disease [RCV001460693]|not specified [RCV000438938] Chr6:80273197 [GRCh38]
Chr6:80982914 [GRCh37]
Chr6:6q14.1
likely benign
NM_183050.4(BCKDHB):c.447T>C (p.Phe149=) single nucleotide variant Maple syrup urine disease [RCV000540485]|not specified [RCV000432088] Chr6:80167781 [GRCh38]
Chr6:80877498 [GRCh37]
Chr6:6q14.1
benign|likely benign
NM_183050.4(BCKDHB):c.477+14C>T single nucleotide variant not specified [RCV000442667] Chr6:80167825 [GRCh38]
Chr6:80877542 [GRCh37]
Chr6:6q14.1
likely benign
NM_183050.4(BCKDHB):c.478-15C>T single nucleotide variant not specified [RCV000429033] Chr6:80168860 [GRCh38]
Chr6:80878577 [GRCh37]
Chr6:6q14.1
likely benign
NM_183050.4(BCKDHB):c.*2186A>G single nucleotide variant not specified [RCV000436063] Chr6:80345990 [GRCh38]
Chr6:81055707 [GRCh37]
Chr6:6q14.1
likely benign
NM_183050.4(BCKDHB):c.637G>T (p.Val213Phe) single nucleotide variant Maple syrup urine disease [RCV000675115]|not provided [RCV000429032] Chr6:80171285 [GRCh38]
Chr6:80881002 [GRCh37]
Chr6:6q14.1
likely pathogenic|uncertain significance
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3 copy number gain See cases [RCV000512067] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27
pathogenic
NM_183050.4(BCKDHB):c.776del (p.Pro259fs) deletion not provided [RCV000480050] Chr6:80200965 [GRCh38]
Chr6:80910682 [GRCh37]
Chr6:6q14.1
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482) copy number gain See cases [RCV000510595] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27
pathogenic
NM_183050.4(BCKDHB):c.995C>T (p.Pro332Leu) single nucleotide variant Maple syrup urine disease [RCV000530607]|not provided [RCV000498242] Chr6:80273178 [GRCh38]
Chr6:80982895 [GRCh37]
Chr6:6q14.1
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_183050.4(BCKDHB):c.305G>C (p.Gly102Ala) single nucleotide variant not provided [RCV000498492] Chr6:80129191 [GRCh38]
Chr6:80838908 [GRCh37]
Chr6:6q14.1
likely pathogenic
NM_183050.4(BCKDHB):c.560G>A (p.Gly187Asp) single nucleotide variant not provided [RCV000493769] Chr6:80168957 [GRCh38]
Chr6:80878674 [GRCh37]
Chr6:6q14.1
likely pathogenic
NM_183050.4(BCKDHB):c.2T>C (p.Met1Thr) single nucleotide variant Maple syrup urine disease [RCV000669039] Chr6:80106695 [GRCh38]
Chr6:80816412 [GRCh37]
Chr6:6q14.1
likely pathogenic
NM_183050.4(BCKDHB):c.599C>T (p.Pro200Leu) single nucleotide variant Maple syrup urine disease [RCV000668982] Chr6:80168996 [GRCh38]
Chr6:80878713 [GRCh37]
Chr6:6q14.1
uncertain significance
NM_183050.4(BCKDHB):c.633+1G>T single nucleotide variant Maple syrup urine disease [RCV000669008] Chr6:80169031 [GRCh38]
Chr6:80878748 [GRCh37]
Chr6:6q14.1
pathogenic|likely pathogenic
NM_183050.4(BCKDHB):c.548G>A (p.Arg183Gln) single nucleotide variant Maple syrup urine disease [RCV000631894] Chr6:80168945 [GRCh38]
Chr6:80878662 [GRCh37]
Chr6:6q14.1
likely pathogenic
NM_183050.4(BCKDHB):c.152del (p.Val51fs) deletion Maple syrup urine disease [RCV000631886] Chr6:80106845 [GRCh38]
Chr6:80816562 [GRCh37]
Chr6:6q14.1
pathogenic
NM_183050.4(BCKDHB):c.1039-10C>T single nucleotide variant Maple syrup urine disease [RCV000631896] Chr6:80343654 [GRCh38]
Chr6:81053371 [GRCh37]
Chr6:6q14.1
likely benign
NM_183050.4(BCKDHB):c.1130C>T (p.Pro377Leu) single nucleotide variant Maple syrup urine disease [RCV000631888] Chr6:80343755 [GRCh38]
Chr6:81053472 [GRCh37]
Chr6:6q14.1
uncertain significance
NM_183050.4(BCKDHB):c.1115A>T (p.Glu372Val) single nucleotide variant Maple syrup urine disease [RCV000631891] Chr6:80343740 [GRCh38]
Chr6:81053457 [GRCh37]
Chr6:6q14.1
uncertain significance
NM_183050.4(BCKDHB):c.672T>G (p.Leu224=) single nucleotide variant Maple syrup urine disease [RCV001477879]|not specified [RCV000601877] Chr6:80171320 [GRCh38]
Chr6:80881037 [GRCh37]
Chr6:6q14.1
likely benign
NM_183050.4(BCKDHB):c.196+8C>G single nucleotide variant Maple syrup urine disease [RCV001403746]|not specified [RCV000609567] Chr6:80106897 [GRCh38]
Chr6:80816614 [GRCh37]
Chr6:6q14.1
likely benign
NM_183050.4(BCKDHB):c.1042G>A (p.Glu348Lys) single nucleotide variant Maple syrup urine disease [RCV000631892] Chr6:80343667 [GRCh38]
Chr6:81053384 [GRCh37]
Chr6:6q14.1
uncertain significance
NM_183050.4(BCKDHB):c.393A>T (p.Gly131=) single nucleotide variant Maple syrup urine disease [RCV000900016]|not specified [RCV000615430] Chr6:80167727 [GRCh38]
Chr6:80877444 [GRCh37]
Chr6:6q14.1
likely benign
NM_183050.4(BCKDHB):c.714dup (p.Glu239Ter) duplication Maple syrup urine disease [RCV000631887] Chr6:80171356..80171357 [GRCh38]
Chr6:80881073..80881074 [GRCh37]
Chr6:6q14.1
pathogenic
NM_183050.4(BCKDHB):c.364dup (p.Thr122fs) duplication Maple syrup urine disease [RCV000672840] Chr6:80167697..80167698 [GRCh38]
Chr6:80877414..80877415 [GRCh37]
Chr6:6q14.1
likely pathogenic
NM_183050.4(BCKDHB):c.196+1G>T single nucleotide variant Maple syrup urine disease [RCV000672948] Chr6:80106890 [GRCh38]
Chr6:80816607 [GRCh37]
Chr6:6q14.1
likely pathogenic
NM_183050.4(BCKDHB):c.988G>A (p.Glu330Lys) single nucleotide variant Maple syrup urine disease [RCV000673516] Chr6:80273171 [GRCh38]
Chr6:80982888 [GRCh37]
Chr6:6q14.1
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_183050.4(BCKDHB):c.169C>T (p.Gln57Ter) single nucleotide variant Maple syrup urine disease [RCV000671817] Chr6:80106862 [GRCh38]
Chr6:80816579 [GRCh37]
Chr6:6q14.1
likely pathogenic
NM_183050.4(BCKDHB):c.952-16_952-15del deletion Maple syrup urine disease [RCV000664867] Chr6:80273116..80273117 [GRCh38]
Chr6:80982833..80982834 [GRCh37]
Chr6:6q14.1
likely benign
NM_183050.4(BCKDHB):c.952-2A>G single nucleotide variant Maple syrup urine disease [RCV000665340] Chr6:80273133 [GRCh38]
Chr6:80982850 [GRCh37]
Chr6:6q14.1
likely pathogenic
NM_183050.4(BCKDHB):c.1159C>T (p.Arg387Ter) single nucleotide variant Maple syrup urine disease [RCV000671826] Chr6:80343784 [GRCh38]
Chr6:81053501 [GRCh37]
Chr6:6q14.1
conflicting interpretations of pathogenicity|uncertain significance
NM_183050.4(BCKDHB):c.633+1G>C single nucleotide variant Maple syrup urine disease [RCV000665584] Chr6:80169031 [GRCh38]
Chr6:80878748 [GRCh37]
Chr6:6q14.1
likely pathogenic
NM_183050.4(BCKDHB):c.-22_4del (p.Met1fs) deletion Maple syrup urine disease [RCV000674485] Chr6:80106671..80106696 [GRCh38]
Chr6:80816388..80816413 [GRCh37]
Chr6:6q14.1
likely pathogenic
NM_183050.4(BCKDHB):c.931G>C (p.Asp311His) single nucleotide variant Maple syrup urine disease [RCV000674818] Chr6:80203192 [GRCh38]
Chr6:80912909 [GRCh37]
Chr6:6q14.1
uncertain significance
GRCh37/hg19 6q13-14.2(chr6:73674612-84829774)x1 copy number loss not provided [RCV000682681] Chr6:73674612..84829774 [GRCh37]
Chr6:6q13-14.2
pathogenic
NM_183050.4(BCKDHB):c.281_291del (p.Phe94fs) deletion Maple syrup urine disease [RCV000664711] Chr6:80129165..80129175 [GRCh38]
Chr6:80838882..80838892 [GRCh37]
Chr6:6q14.1
likely pathogenic
NM_183050.4(BCKDHB):c.196+1G>C single nucleotide variant Maple syrup urine disease [RCV000672543] Chr6:80106890 [GRCh38]
Chr6:80816607 [GRCh37]
Chr6:6q14.1
likely pathogenic
NM_183050.4(BCKDHB):c.964del (p.Thr322fs) deletion Maple syrup urine disease [RCV000674353] Chr6:80273144 [GRCh38]
Chr6:80982861 [GRCh37]
Chr6:6q14.1
likely pathogenic
NM_183050.4(BCKDHB):c.742+1G>A single nucleotide variant Maple syrup urine disease [RCV000672647] Chr6:80171391 [GRCh38]
Chr6:80881108 [GRCh37]
Chr6:6q14.1
likely pathogenic
NM_183050.4(BCKDHB):c.1A>T (p.Met1Leu) single nucleotide variant Maple syrup urine disease [RCV000666521] Chr6:80106694 [GRCh38]
Chr6:80816411 [GRCh37]
Chr6:6q14.1
likely pathogenic
GRCh37/hg19 6q14.1(chr6:80480799-81040515)x3 copy number gain not provided [RCV000682687] Chr6:80480799..81040515 [GRCh37]
Chr6:6q14.1
uncertain significance
NM_183050.4(BCKDHB):c.1067C>T (p.Pro356Leu) single nucleotide variant Maple syrup urine disease [RCV000672025] Chr6:80343692 [GRCh38]
Chr6:81053409 [GRCh37]
Chr6:6q14.1
uncertain significance
NM_183050.4(BCKDHB):c.1149T>A (p.Tyr383Ter) single nucleotide variant Maple syrup urine disease [RCV000668675] Chr6:80343774 [GRCh38]
Chr6:81053491 [GRCh37]
Chr6:6q14.1
pathogenic|likely pathogenic
NM_183050.4(BCKDHB):c.343+2T>G single nucleotide variant Maple syrup urine disease [RCV000672452] Chr6:80129231 [GRCh38]
Chr6:80838948 [GRCh37]
Chr6:6q14.1
likely pathogenic
NM_183050.4(BCKDHB):c.8_19dup (p.Val3_Ala6dup) duplication Maple syrup urine disease [RCV000672547] Chr6:80106695..80106696 [GRCh38]
Chr6:80816412..80816413 [GRCh37]
Chr6:6q14.1
uncertain significance
NM_183050.4(BCKDHB):c.841-1G>C single nucleotide variant Maple syrup urine disease [RCV000666534] Chr6:80203101 [GRCh38]
Chr6:80912818 [GRCh37]
Chr6:6q14.1
pathogenic|likely pathogenic
NM_183050.4(BCKDHB):c.811_824del (p.Asp271fs) deletion Maple syrup urine disease [RCV000673322] Chr6:80200999..80201012 [GRCh38]
Chr6:80910716..80910729 [GRCh37]
Chr6:6q14.1
likely pathogenic
NM_183050.4(BCKDHB):c.1023del (p.Ser342fs) deletion Maple syrup urine disease [RCV000667163] Chr6:80273206 [GRCh38]
Chr6:80982923 [GRCh37]
Chr6:6q14.1
likely pathogenic
NM_183050.4(BCKDHB):c.181G>T (p.Glu61Ter) single nucleotide variant Maple syrup urine disease [RCV000673646] Chr6:80106874 [GRCh38]
Chr6:80816591 [GRCh37]
Chr6:6q14.1
likely pathogenic
NM_183050.4(BCKDHB):c.953C>T (p.Ser318Phe) single nucleotide variant Maple syrup urine disease [RCV000688955] Chr6:80273136 [GRCh38]
Chr6:80982853 [GRCh37]
Chr6:6q14.1
uncertain significance
NM_183050.4(BCKDHB):c.57_64dup (p.His22fs) duplication Maple syrup urine disease [RCV000688957] Chr6:80106743..80106744 [GRCh38]
Chr6:80816460..80816461 [GRCh37]
Chr6:6q14.1
pathogenic
NM_183050.4(BCKDHB):c.564T>A (p.Cys188Ter) single nucleotide variant Maple syrup urine disease [RCV000704171] Chr6:80168961 [GRCh38]
Chr6:80878678 [GRCh37]
Chr6:6q14.1
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3 copy number gain not provided [RCV000745403] Chr6:108666..170980171 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3 copy number gain not provided [RCV000745400] Chr6:60107..171054786 [GRCh37]
Chr6:6p25.3-q27
pathogenic
NM_183050.4(BCKDHB):c.344-102A>G single nucleotide variant not provided [RCV001732470] Chr6:80167576 [GRCh38]
Chr6:80877293 [GRCh37]
Chr6:6q14.1
likely benign
GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3 copy number gain not provided [RCV000745404] Chr6:165632..170919470 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6q14.1(chr6:80975741-81072208)x3 copy number gain not provided [RCV000745870] Chr6:80975741..81072208 [GRCh37]
Chr6:6q14.1
benign
GRCh37/hg19 6q14.1(chr6:80982394-81064816)x3 copy number gain not provided [RCV000745871] Chr6:80982394..81064816 [GRCh37]
Chr6:6q14.1
benign
NM_183050.4(BCKDHB):c.854G>A (p.Arg285Gln) single nucleotide variant Maple syrup urine disease [RCV001559211] Chr6:80203115 [GRCh38]
Chr6:80912832 [GRCh37]
Chr6:6q14.1
uncertain significance
NM_183050.4(BCKDHB):c.743-80G>A single nucleotide variant not provided [RCV001690854] Chr6:80200854 [GRCh38]
Chr6:80910571 [GRCh37]
Chr6:6q14.1
benign
NM_183050.4(BCKDHB):c.1145G>A (p.Cys382Tyr) single nucleotide variant Maple syrup urine disease [RCV000761470] Chr6:80343770 [GRCh38]
Chr6:81053487 [GRCh37]
Chr6:6q14.1
likely pathogenic
NM_183050.4(BCKDHB):c.115G>A (p.Ala39Thr) single nucleotide variant Maple syrup urine disease [RCV000987745] Chr6:80106808 [GRCh38]
Chr6:80816525 [GRCh37]
Chr6:6q14.1
uncertain significance
NM_001318975.1(BCKDHB):c.-75C>T single nucleotide variant not provided [RCV001550666] Chr6:80106623 [GRCh38]
Chr6:80816340 [GRCh37]
Chr6:6q14.1
likely benign
NM_183050.4(BCKDHB):c.343+196A>G single nucleotide variant not provided [RCV001680339] Chr6:80129425 [GRCh38]
Chr6:80839142 [GRCh37]
Chr6:6q14.1
benign
NM_183050.4(BCKDHB):c.732C>T (p.Tyr244=) single nucleotide variant Maple syrup urine disease [RCV001164159] Chr6:80171380 [GRCh38]
Chr6:80881097 [GRCh37]
Chr6:6q14.1
conflicting interpretations of pathogenicity|uncertain significance
NM_183050.4(BCKDHB):c.90G>A (p.Gly30=) single nucleotide variant Maple syrup urine disease [RCV001481379]|not provided [RCV000925236] Chr6:80106783 [GRCh38]
Chr6:80816500 [GRCh37]
Chr6:6q14.1
likely benign
NM_183050.4(BCKDHB):c.633G>C (p.Lys211Asn) single nucleotide variant Maple syrup urine disease [RCV000973811]|Maple syrup urine disease type 1B [RCV001273120] Chr6:80169030 [GRCh38]
Chr6:80878747 [GRCh37]
Chr6:6q14.1
likely benign|uncertain significance
NM_183050.4(BCKDHB):c.267T>C (p.Pro89=) single nucleotide variant Maple syrup urine disease [RCV001474242]|not provided [RCV000929264] Chr6:80127617 [GRCh38]
Chr6:80837334 [GRCh37]
Chr6:6q14.1
likely benign
NM_183050.4(BCKDHB):c.411G>A (p.Ala137=) single nucleotide variant Maple syrup urine disease [RCV000973810]|Maple syrup urine disease type 1B [RCV001273119] Chr6:80167745 [GRCh38]
Chr6:80877462 [GRCh37]
Chr6:6q14.1
likely benign|uncertain significance
NM_183050.4(BCKDHB):c.743-8G>T single nucleotide variant not provided [RCV000973876] Chr6:80200926 [GRCh38]
Chr6:80910643 [GRCh37]
Chr6:6q14.1
likely benign
NM_183050.4(BCKDHB):c.197-10A>T single nucleotide variant not provided [RCV000877047] Chr6:80127537 [GRCh38]
Chr6:80837254 [GRCh37]
Chr6:6q14.1
likely benign
NM_183050.4(BCKDHB):c.1143G>A (p.Lys381=) single nucleotide variant Maple syrup urine disease [RCV000877170] Chr6:80343768 [GRCh38]
Chr6:81053485 [GRCh37]
Chr6:6q14.1
likely benign
NM_183050.4(BCKDHB):c.1107C>T (p.His369=) single nucleotide variant Maple syrup urine disease [RCV001453879]|not provided [RCV000983201] Chr6:80343732 [GRCh38]
Chr6:81053449 [GRCh37]
Chr6:6q14.1
likely benign
NM_183050.4(BCKDHB):c.969G>C (p.Gly323=) single nucleotide variant Maple syrup urine disease [RCV000976415] Chr6:80273152 [GRCh38]
Chr6:80982869 [GRCh37]
Chr6:6q14.1
likely benign
NM_183050.4(BCKDHB):c.17C>T (p.Ala6Val) single nucleotide variant Maple syrup urine disease [RCV000951018]|Maple syrup urine disease type 1B [RCV001273116]|not provided [RCV001552203] Chr6:80106710 [GRCh38]
Chr6:80816427 [GRCh37]
Chr6:6q14.1
benign|likely benign
NM_183050.4(BCKDHB):c.908dup (p.Asp303fs) duplication Maple syrup urine disease [RCV001052891] Chr6:80203168..80203169 [GRCh38]
Chr6:80912885..80912886 [GRCh37]
Chr6:6q14.1
pathogenic
GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367) copy number gain not provided [RCV000767714] Chr6:29455465..81447367 [GRCh37]
Chr6:6p22.1-q14.1
pathogenic
NM_183050.4(BCKDHB):c.617A>C (p.His206Pro) single nucleotide variant Maple syrup urine disease [RCV001050318] Chr6:80169014 [GRCh38]
Chr6:80878731 [GRCh37]
Chr6:6q14.1
uncertain significance
NM_183050.4(BCKDHB):c.263A>T (p.Asp88Val) single nucleotide variant Maple syrup urine disease [RCV001047176]|Maple syrup urine disease type 1B [RCV001273015] Chr6:80127613 [GRCh38]
Chr6:80837330 [GRCh37]
Chr6:6q14.1
uncertain significance
NM_183050.4(BCKDHB):c.753C>A (p.Val251=) single nucleotide variant Maple syrup urine disease [RCV001474241]|not provided [RCV000929260] Chr6:80200944 [GRCh38]
Chr6:80910661 [GRCh37]
Chr6:6q14.1
likely benign
NM_183050.4(BCKDHB):c.168C>T (p.Phe56=) single nucleotide variant Maple syrup urine disease [RCV000884949] Chr6:80106861 [GRCh38]
Chr6:80816578 [GRCh37]
Chr6:6q14.1
likely benign
NM_183050.4(BCKDHB):c.48G>T (p.Ala16=) single nucleotide variant Maple syrup urine disease [RCV001464986]|not provided [RCV000977174] Chr6:80106741 [GRCh38]
Chr6:80816458 [GRCh37]
Chr6:6q14.1
likely benign
NM_183050.4(BCKDHB):c.435G>T (p.Ala145=) single nucleotide variant Maple syrup urine disease [RCV001468907]|not provided [RCV000941629] Chr6:80167769 [GRCh38]
Chr6:80877486 [GRCh37]
Chr6:6q14.1
likely benign
NM_183050.4(BCKDHB):c.429C>T (p.Ala143=) single nucleotide variant Maple syrup urine disease [RCV001439103]|not provided [RCV000941936] Chr6:80167763 [GRCh38]
Chr6:80877480 [GRCh37]
Chr6:6q14.1
likely benign
NM_183050.4(BCKDHB):c.24C>T (p.Ala8=) single nucleotide variant Maple syrup urine disease [RCV000929892]|Maple syrup urine disease type 1B [RCV001273117] Chr6:80106717 [GRCh38]
Chr6:80816434 [GRCh37]
Chr6:6q14.1
likely benign|uncertain significance
NM_183050.4(BCKDHB):c.693T>C (p.Asp231=) single nucleotide variant not provided [RCV000906259] Chr6:80171341 [GRCh38]
Chr6:80881058 [GRCh37]
Chr6:6q14.1
likely benign
NM_183050.4(BCKDHB):c.33A>T (p.Leu11=) single nucleotide variant Maple syrup urine disease [RCV000980203]|Maple syrup urine disease type 1B [RCV001273118] Chr6:80106726 [GRCh38]
Chr6:80816443 [GRCh37]
Chr6:6q14.1
likely benign|uncertain significance
NM_183050.4(BCKDHB):c.70_71insTTCCTGGCAGGGGCTGAGGA (p.Arg24delinsLeuProGlyArgGlyTer) insertion Maple syrup urine disease [RCV000809821] Chr6:80106763..80106764 [GRCh38]
Chr6:80816480..80816481 [GRCh37]
Chr6:6q14.1
pathogenic
NM_183050.4(BCKDHB):c.555T>C (p.Pro185=) single nucleotide variant Maple syrup urine disease [RCV000915101] Chr6:80168952 [GRCh38]
Chr6:80878669 [GRCh37]
Chr6:6q14.1
likely benign
NM_183050.4(BCKDHB):c.197-206A>G single nucleotide variant not provided [RCV000843544] Chr6:80127341 [GRCh38]
Chr6:80837058 [GRCh37]
Chr6:6q14.1
benign
NM_183050.4(BCKDHB):c.742+182C>G single nucleotide variant not provided [RCV000843551] Chr6:80171572 [GRCh38]
Chr6:80881289 [GRCh37]
Chr6:6q14.1
benign
NM_183050.4(BCKDHB):c.196G>T (p.Gly66Trp) single nucleotide variant Maple syrup urine disease [RCV000822086] Chr6:80106889 [GRCh38]
Chr6:80816606 [GRCh37]
Chr6:6q14.1
uncertain significance
NM_183050.4(BCKDHB):c.1068T>C (p.Pro356=) single nucleotide variant not provided [RCV000827175] Chr6:80343693 [GRCh38]
Chr6:81053410 [GRCh37]
Chr6:6q14.1
likely benign
NM_183050.4(BCKDHB):c.821T>C (p.Leu274Pro) single nucleotide variant Maple syrup urine disease [RCV000818587] Chr6:80201012 [GRCh38]
Chr6:80910729 [GRCh37]
Chr6:6q14.1
uncertain significance
GRCh37/hg19 6q14.1(chr6:80964546-80983538)x1 copy number loss not provided [RCV000849493] Chr6:80964546..80983538 [GRCh37]
Chr6:6q14.1
pathogenic
NM_183050.4(BCKDHB):c.239C>G (p.Ala80Gly) single nucleotide variant Maple syrup urine disease [RCV000812935] Chr6:80127589 [GRCh38]
Chr6:80837306 [GRCh37]
Chr6:6q14.1
uncertain significance
NM_183050.4(BCKDHB):c.*2224T>A single nucleotide variant Maple syrup urine disease [RCV001164382] Chr6:80346028 [GRCh38]
Chr6:81055745 [GRCh37]
Chr6:6q14.1
uncertain significance
GRCh37/hg19 6q14.1(chr6:78216253-82753743)x3 copy number gain not provided [RCV000846973] Chr6:78216253..82753743 [GRCh37]
Chr6:6q14.1
uncertain significance
NC_000006.11:g.(?_80910641)_(80982948_?)dup duplication Maple syrup urine disease [RCV000792164] Chr6:80200924..80273231 [GRCh38]
Chr6:80910641..80982948 [GRCh37]
Chr6:6q14.1
likely pathogenic
NM_183050.4(BCKDHB):c.534A>G (p.Gly178=) single nucleotide variant Maple syrup urine disease [RCV001456505]|not provided [RCV000982032] Chr6:80168931 [GRCh38]
Chr6:80878648 [GRCh37]
Chr6:6q14.1
likely benign
NM_183050.4(BCKDHB):c.951+287A>G single nucleotide variant not provided [RCV000843552] Chr6:80203499 [GRCh38]
Chr6:80913216 [GRCh37]
Chr6:6q14.1
benign
NM_183050.4(BCKDHB):c.1039-274G>A single nucleotide variant not provided [RCV000843554] Chr6:80343390 [GRCh38]
Chr6:81053107 [GRCh37]
Chr6:6q14.1
benign
NM_183050.4(BCKDHB):c.1039-164G>T single nucleotide variant not provided [RCV000843556] Chr6:80343500 [GRCh38]
Chr6:81053217 [GRCh37]
Chr6:6q14.1
benign
NC_000006.12:g.(?_80273125)_(80273231_?)del deletion Maple syrup urine disease [RCV001032203] Chr6:80982842..80982948 [GRCh37]
Chr6:6q14.1
likely pathogenic
GRCh37/hg19 6q14.1(chr6:80884790-80997902)x3 copy number gain not provided [RCV000847689] Chr6:80884790..80997902 [GRCh37]
Chr6:6q14.1
uncertain significance
GRCh37/hg19 6q14.1(chr6:80884500-80997653)x3 copy number gain not provided [RCV000847065] Chr6:80884500..80997653 [GRCh37]
Chr6:6q14.1
uncertain significance
NC_000006.12:g.(?_80106674)_(80106909_?)del deletion Maple syrup urine disease [RCV001032526] Chr6:80816391..80816626 [GRCh37]
Chr6:6q14.1
pathogenic
NM_183050.4(BCKDHB):c.528C>G (p.Asn176Lys) single nucleotide variant Maple syrup urine disease [RCV000987747] Chr6:80168925 [GRCh38]
Chr6:80878642 [GRCh37]
Chr6:6q14.1
likely pathogenic
NM_183050.4(BCKDHB):c.612del (p.Phe204fs) deletion Maple syrup urine disease [RCV001220702] Chr6:80169004 [GRCh38]
Chr6:80878721 [GRCh37]
Chr6:6q14.1
pathogenic
GRCh37/hg19 6q14.1(chr6:80557845-80897919)x1 copy number loss not provided [RCV000845729] Chr6:80557845..80897919 [GRCh37]
Chr6:6q14.1
uncertain significance
NM_183050.4(BCKDHB):c.107dup (p.Leu36fs) duplication Maple syrup urine disease [RCV001209665] Chr6:80106795..80106796 [GRCh38]
Chr6:80816512..80816513 [GRCh37]
Chr6:6q14.1
pathogenic
NM_183050.4(BCKDHB):c.274+5C>T single nucleotide variant Maple syrup urine disease [RCV001241254] Chr6:80127629 [GRCh38]
Chr6:80837346 [GRCh37]
Chr6:6q14.1
uncertain significance
NM_183050.4(BCKDHB):c.862G>C (p.Ala288Pro) single nucleotide variant Maple syrup urine disease [RCV001209664] Chr6:80203123 [GRCh38]
Chr6:80912840 [GRCh37]
Chr6:6q14.1
uncertain significance
NM_183050.4(BCKDHB):c.10G>A (p.Val4Ile) single nucleotide variant Maple syrup urine disease [RCV001241757] Chr6:80106703 [GRCh38]
Chr6:80816420 [GRCh37]
Chr6:6q14.1
uncertain significance
NM_183050.4(BCKDHB):c.951+1G>A single nucleotide variant Maple syrup urine disease [RCV001232495] Chr6:80203213 [GRCh38]
Chr6:80912930 [GRCh37]
Chr6:6q14.1
likely pathogenic
GRCh37/hg19 6q14.1(chr6:80884516-80997902)x3 copy number gain not provided [RCV000847435] Chr6:80884516..80997902 [GRCh37]
Chr6:6q14.1
uncertain significance
NM_183050.4(BCKDHB):c.*540T>C single nucleotide variant Maple syrup urine disease [RCV001160621] Chr6:80344344 [GRCh38]
Chr6:81054061 [GRCh37]
Chr6:6q14.1
uncertain significance
NM_183050.4(BCKDHB):c.*569G>A single nucleotide variant Maple syrup urine disease [RCV001160622] Chr6:80344373 [GRCh38]
Chr6:81054090 [GRCh37]
Chr6:6q14.1
uncertain significance
NM_183050.4(BCKDHB):c.*1603G>A single nucleotide variant Maple syrup urine disease [RCV001160723] Chr6:80345407 [GRCh38]
Chr6:81055124 [GRCh37]
Chr6:6q14.1
uncertain significance
NM_183050.4(BCKDHB):c.745G>T (p.Glu249Ter) single nucleotide variant Maple syrup urine disease [RCV001212982] Chr6:80200936 [GRCh38]
Chr6:80910653 [GRCh37]
Chr6:6q14.1
pathogenic
NM_183050.4(BCKDHB):c.*2245C>G single nucleotide variant Maple syrup urine disease [RCV001164383] Chr6:80346049 [GRCh38]
Chr6:81055766 [GRCh37]
Chr6:6q14.1
uncertain significance
NM_183050.4(BCKDHB):c.478-63C>A single nucleotide variant not provided [RCV001723195] Chr6:80168812 [GRCh38]
Chr6:80878529 [GRCh37]
Chr6:6q14.1
benign
NM_183050.4(BCKDHB):c.743-17del deletion not provided [RCV001596820] Chr6:80200906 [GRCh38]
Chr6:80910623 [GRCh37]
Chr6:6q14.1
benign
NM_183050.4(BCKDHB):c.1039-264G>A single nucleotide variant not provided [RCV001621370] Chr6:80343400 [GRCh38]
Chr6:81053117 [GRCh37]
Chr6:6q14.1
benign
NM_183050.4(BCKDHB):c.275-288TG[16] microsatellite not provided [RCV001713759] Chr6:80128873..80128876 [GRCh38]
Chr6:80838590..80838593 [GRCh37]
Chr6:6q14.1
benign
NM_183050.4(BCKDHB):c.633+57T>C single nucleotide variant not provided [RCV001616739] Chr6:80169087 [GRCh38]
Chr6:80878804 [GRCh37]
Chr6:6q14.1
benign
NM_183050.4(BCKDHB):c.197-46del deletion not provided [RCV001551868] Chr6:80127501 [GRCh38]
Chr6:80837218 [GRCh37]
Chr6:6q14.1
likely benign
NM_183050.4(BCKDHB):c.840+156T>G single nucleotide variant not provided [RCV001558164] Chr6:80201187 [GRCh38]
Chr6:80910904 [GRCh37]
Chr6:6q14.1
likely benign
Single allele single nucleotide variant not provided [RCV001680590] Chr6:80106428 [GRCh38]
Chr6:80816145 [GRCh37]
Chr6:6q14.1
benign
NM_183050.4(BCKDHB):c.197-12dup duplication not provided [RCV001716759] Chr6:80127525..80127526 [GRCh38]
Chr6:80837242..80837243 [GRCh37]
Chr6:6q14.1
benign
NM_183050.4(BCKDHB):c.135G>A (p.Ala45=) single nucleotide variant not provided [RCV000930326] Chr6:80106828 [GRCh38]
Chr6:80816545 [GRCh37]
Chr6:6q14.1
likely benign
NM_183050.4(BCKDHB):c.537C>T (p.Ser179=) single nucleotide variant Maple syrup urine disease [RCV000931237] Chr6:80168934 [GRCh38]
Chr6:80878651 [GRCh37]
Chr6:6q14.1
likely benign
NM_183050.4(BCKDHB):c.402C>T (p.Ile134=) single nucleotide variant Maple syrup urine disease [RCV000942234] Chr6:80167736 [GRCh38]
Chr6:80877453 [GRCh37]
Chr6:6q14.1
likely benign
NM_183050.4(BCKDHB):c.36C>T (p.Leu12=) single nucleotide variant Maple syrup urine disease [RCV000932857] Chr6:80106729 [GRCh38]
Chr6:80816446 [GRCh37]
Chr6:6q14.1
likely benign
NM_183050.4(BCKDHB):c.858G>A (p.Glu286=) single nucleotide variant Maple syrup urine disease [RCV001449304]|Maple syrup urine disease type 1B [RCV001280520]|not provided [RCV000930028] Chr6:80203119 [GRCh38]
Chr6:80912836 [GRCh37]
Chr6:6q14.1
likely benign|uncertain significance
NM_183050.4(BCKDHB):c.301G>A (p.Gly101Ser) single nucleotide variant Maple syrup urine disease [RCV001034919] Chr6:80129187 [GRCh38]
Chr6:80838904 [GRCh37]
Chr6:6q14.1
uncertain significance
NM_183050.4(BCKDHB):c.895T>A (p.Cys299Ser) single nucleotide variant Maple syrup urine disease [RCV001218611] Chr6:80203156 [GRCh38]
Chr6:80912873 [GRCh37]
Chr6:6q14.1
uncertain significance
NM_183050.4(BCKDHB):c.*1143A>G single nucleotide variant Maple syrup urine disease [RCV001159355] Chr6:80344947 [GRCh38]
Chr6:81054664 [GRCh37]
Chr6:6q14.1
uncertain significance
NM_183050.4(BCKDHB):c.*1908A>G single nucleotide variant Maple syrup urine disease [RCV001164377] Chr6:80345712 [GRCh38]
Chr6:81055429 [GRCh37]
Chr6:6q14.1
uncertain significance
NM_183050.4(BCKDHB):c.*1909T>C single nucleotide variant Maple syrup urine disease [RCV001164378] Chr6:80345713 [GRCh38]
Chr6:81055430 [GRCh37]
Chr6:6q14.1
uncertain significance
NM_183050.4(BCKDHB):c.*2212T>C single nucleotide variant Maple syrup urine disease [RCV001164381] Chr6:80346016 [GRCh38]
Chr6:81055733 [GRCh37]
Chr6:6q14.1
uncertain significance
NM_183050.4(BCKDHB):c.496A>T (p.Lys166Ter) single nucleotide variant Maple syrup urine disease [RCV001203795] Chr6:80168893 [GRCh38]
Chr6:80878610 [GRCh37]
Chr6:6q14.1
pathogenic|likely pathogenic
NM_183050.4(BCKDHB):c.5C>T (p.Ala2Val) single nucleotide variant Maple syrup urine disease [RCV001243582] Chr6:80106698 [GRCh38]
Chr6:80816415 [GRCh37]
Chr6:6q14.1
uncertain significance
NM_183050.4(BCKDHB):c.658C>T (p.Gln220Ter) single nucleotide variant Maple syrup urine disease [RCV001224152] Chr6:80171306 [GRCh38]
Chr6:80881023 [GRCh37]
Chr6:6q14.1
pathogenic
NM_183050.4(BCKDHB):c.1132G>A (p.Asp378Asn) single nucleotide variant Maple syrup urine disease [RCV001225322] Chr6:80343757 [GRCh38]
Chr6:81053474 [GRCh37]
Chr6:6q14.1
uncertain significance
NM_183050.4(BCKDHB):c.989A>G (p.Glu330Gly) single nucleotide variant Maple syrup urine disease [RCV001235219] Chr6:80273172 [GRCh38]
Chr6:80982889 [GRCh37]
Chr6:6q14.1
uncertain significance
NM_183050.4(BCKDHB):c.478A>T (p.Ile160Phe) single nucleotide variant Maple syrup urine disease [RCV000987746] Chr6:80168875 [GRCh38]
Chr6:80878592 [GRCh37]
Chr6:6q14.1
likely pathogenic
NM_183050.4(BCKDHB):c.742+194T>C single nucleotide variant not provided [RCV001568736] Chr6:80171584 [GRCh38]
Chr6:80881301 [GRCh37]
Chr6:6q14.1
likely benign
Single allele single nucleotide variant not provided [RCV001618791] Chr6:80106579 [GRCh38]
Chr6:80816296 [GRCh37]
Chr6:6q14.1
benign
NM_183050.4(BCKDHB):c.275-288TG[17] microsatellite not provided [RCV001718122] Chr6:80128873..80128874 [GRCh38]
Chr6:80838590..80838591 [GRCh37]
Chr6:6q14.1
benign
NM_183050.4(BCKDHB):c.275-288TG[19] microsatellite not provided [RCV001696539] Chr6:80128872..80128873 [GRCh38]
Chr6:80838589..80838590 [GRCh37]
Chr6:6q14.1
benign
NM_183050.4(BCKDHB):c.*198GTT[4] microsatellite not provided [RCV001655458] Chr6:80344000..80344002 [GRCh38]
Chr6:81053717..81053719 [GRCh37]
Chr6:6q14.1
benign
NM_183050.4(BCKDHB):c.275-288TG[15] microsatellite not provided [RCV001678369] Chr6:80128873..80128878 [GRCh38]
Chr6:80838590..80838595 [GRCh37]
Chr6:6q14.1
benign
NM_183050.4(BCKDHB):c.1038+2T>C single nucleotide variant Maple syrup urine disease [RCV001067446] Chr6:80273223 [GRCh38]
Chr6:80982940 [GRCh37]
Chr6:6q14.1
likely pathogenic
NM_183050.4(BCKDHB):c.*1008T>C single nucleotide variant Maple syrup urine disease [RCV001159354] Chr6:80344812 [GRCh38]
Chr6:81054529 [GRCh37]
Chr6:6q14.1
uncertain significance
NC_000006.12:g.(?_80200924)_(80201041_?)del deletion Maple syrup urine disease [RCV001032199] Chr6:80910641..80910758 [GRCh37]
Chr6:6q14.1
pathogenic
NM_183050.4(BCKDHB):c.1097C>T (p.Pro366Leu) single nucleotide variant Maple syrup urine disease [RCV001069662] Chr6:80343722 [GRCh38]
Chr6:81053439 [GRCh37]
Chr6:6q14.1
uncertain significance
NM_183050.4(BCKDHB):c.*501A>G single nucleotide variant Maple syrup urine disease [RCV001160620] Chr6:80344305 [GRCh38]
Chr6:81054022 [GRCh37]
Chr6:6q14.1
uncertain significance
NM_183050.4(BCKDHB):c.*574A>G single nucleotide variant Maple syrup urine disease [RCV001160623] Chr6:80344378 [GRCh38]
Chr6:81054095 [GRCh37]
Chr6:6q14.1
uncertain significance
NM_183050.4(BCKDHB):c.*1279A>G single nucleotide variant Maple syrup urine disease [RCV001160722] Chr6:80345083 [GRCh38]
Chr6:81054800 [GRCh37]
Chr6:6q14.1
uncertain significance
NM_183050.4(BCKDHB):c.477+70C>T single nucleotide variant not provided [RCV001669012] Chr6:80167881 [GRCh38]
Chr6:80877598 [GRCh37]
Chr6:6q14.1
benign
NM_183050.4(BCKDHB):c.841-234G>A single nucleotide variant not provided [RCV001615845] Chr6:80202868 [GRCh38]
Chr6:80912585 [GRCh37]
Chr6:6q14.1
benign
NM_183050.4(BCKDHB):c.196+142T>C single nucleotide variant not provided [RCV001707251] Chr6:80107031 [GRCh38]
Chr6:80816748 [GRCh37]
Chr6:6q14.1
benign
NM_183050.4(BCKDHB):c.343+101G>A single nucleotide variant not provided [RCV001713482] Chr6:80129330 [GRCh38]
Chr6:80839047 [GRCh37]
Chr6:6q14.1
benign
NM_183050.4(BCKDHB):c.1038+100T>C single nucleotide variant not provided [RCV001536638] Chr6:80273321 [GRCh38]
Chr6:80983038 [GRCh37]
Chr6:6q14.1
likely benign
NM_183050.4(BCKDHB):c.742+239A>G single nucleotide variant not provided [RCV001547105] Chr6:80171629 [GRCh38]
Chr6:80881346 [GRCh37]
Chr6:6q14.1
likely benign
NM_183050.4(BCKDHB):c.193T>G (p.Tyr65Asp) single nucleotide variant Maple syrup urine disease [RCV001559212] Chr6:80106886 [GRCh38]
Chr6:80816603 [GRCh37]
Chr6:6q14.1
uncertain significance
NM_183050.4(BCKDHB):c.-15C>T single nucleotide variant Maple syrup urine disease [RCV001559213] Chr6:80106679 [GRCh38]
Chr6:80816396 [GRCh37]
Chr6:6q14.1
uncertain significance
NM_183050.4(BCKDHB):c.92T>C (p.Leu31Pro) single nucleotide variant Maple syrup urine disease [RCV001207343] Chr6:80106785 [GRCh38]
Chr6:80816502 [GRCh37]
Chr6:6q14.1
uncertain significance
NM_183050.4(BCKDHB):c.*777G>C single nucleotide variant Maple syrup urine disease [RCV001162241] Chr6:80344581 [GRCh38]
Chr6:81054298 [GRCh37]
Chr6:6q14.1
uncertain significance
NM_183050.4(BCKDHB):c.1112T>C (p.Phe371Ser) single nucleotide variant Maple syrup urine disease [RCV001164160] Chr6:80343737 [GRCh38]
Chr6:81053454 [GRCh37]
Chr6:6q14.1
uncertain significance
NM_183050.4(BCKDHB):c.1A>G (p.Met1Val) single nucleotide variant Maple syrup urine disease [RCV001174774] Chr6:80106694 [GRCh38]
Chr6:80816411 [GRCh37]
Chr6:6q14.1
likely pathogenic
NM_183050.4(BCKDHB):c.26G>C (p.Gly9Ala) single nucleotide variant Maple syrup urine disease [RCV001236440] Chr6:80106719 [GRCh38]
Chr6:80816436 [GRCh37]
Chr6:6q14.1
uncertain significance
NM_183050.4(BCKDHB):c.449C>T (p.Ala150Val) single nucleotide variant Maple syrup urine disease [RCV001202327] Chr6:80167783 [GRCh38]
Chr6:80877500 [GRCh37]
Chr6:6q14.1
uncertain significance
NM_183050.4(BCKDHB):c.583dup (p.Tyr195fs) duplication Maple syrup urine disease [RCV001039804] Chr6:80168979..80168980 [GRCh38]
Chr6:80878696..80878697 [GRCh37]
Chr6:6q14.1
pathogenic
NM_183050.4(BCKDHB):c.343+1G>C single nucleotide variant Maple syrup urine disease [RCV001050317] Chr6:80129230 [GRCh38]
Chr6:80838947 [GRCh37]
Chr6:6q14.1
likely pathogenic
NM_183050.4(BCKDHB):c.*263C>A single nucleotide variant Maple syrup urine disease [RCV001159263] Chr6:80344067 [GRCh38]
Chr6:81053784 [GRCh37]
Chr6:6q14.1
likely benign
NM_183050.4(BCKDHB):c.*2018A>G single nucleotide variant Maple syrup urine disease [RCV001164379] Chr6:80345822 [GRCh38]
Chr6:81055539 [GRCh37]
Chr6:6q14.1
uncertain significance
NM_183050.4(BCKDHB):c.*2072C>T single nucleotide variant Maple syrup urine disease [RCV001164380] Chr6:80345876 [GRCh38]
Chr6:81055593 [GRCh37]
Chr6:6q14.1
likely benign
NM_183050.4(BCKDHB):c.331C>T (p.Arg111Ter) single nucleotide variant Maple syrup urine disease [RCV001218214]|Maple syrup urine disease type 1B [RCV001193355] Chr6:80129217 [GRCh38]
Chr6:80838934 [GRCh37]
Chr6:6q14.1
pathogenic
NC_000006.12:g.(?_80167668)_(80171400_?)del deletion Maple syrup urine disease [RCV001033382] Chr6:80877385..80881117 [GRCh37]
Chr6:6q14.1
likely pathogenic
NM_183050.4(BCKDHB):c.398G>A (p.Gly133Glu) single nucleotide variant Maple syrup urine disease [RCV001062973] Chr6:80167732 [GRCh38]
Chr6:80877449 [GRCh37]
Chr6:6q14.1
uncertain significance
NM_183050.4(BCKDHB):c.119C>T (p.Ala40Val) single nucleotide variant Maple syrup urine disease type 1B [RCV001280516] Chr6:80106812 [GRCh38]
Chr6:80816529 [GRCh37]
Chr6:6q14.1
uncertain significance
NM_183050.4(BCKDHB):c.951+4T>C single nucleotide variant Maple syrup urine disease type 1B [RCV001280521] Chr6:80203216 [GRCh38]
Chr6:80912933 [GRCh37]
Chr6:6q14.1
uncertain significance
NM_183050.4(BCKDHB):c.790G>T (p.Glu264Ter) single nucleotide variant Maple syrup urine disease [RCV001263852] Chr6:80200981 [GRCh38]
Chr6:80910698 [GRCh37]
Chr6:6q14.1
likely pathogenic
NM_183050.4(BCKDHB):c.830G>A (p.Trp277Ter) single nucleotide variant Maple syrup urine disease [RCV001263853] Chr6:80201021 [GRCh38]
Chr6:80910738 [GRCh37]
Chr6:6q14.1
likely pathogenic
NM_183050.4(BCKDHB):c.501T>G (p.Tyr167Ter) single nucleotide variant Maple syrup urine disease [RCV001263565] Chr6:80168898 [GRCh38]
Chr6:80878615 [GRCh37]
Chr6:6q14.1
likely pathogenic
NM_183050.4(BCKDHB):c.352A>T (p.Arg118Ter) single nucleotide variant Maple syrup urine disease [RCV001263564] Chr6:80167686 [GRCh38]
Chr6:80877403 [GRCh37]
Chr6:6q14.1
likely pathogenic
NM_183050.4(BCKDHB):c.625G>T (p.Gly209Ter) single nucleotide variant Maple syrup urine disease [RCV001263566] Chr6:80169022 [GRCh38]
Chr6:80878739 [GRCh37]
Chr6:6q14.1
likely pathogenic
NM_183050.4(BCKDHB):c.732C>A (p.Tyr244Ter) single nucleotide variant Maple syrup urine disease [RCV001263567] Chr6:80171380 [GRCh38]
Chr6:80881097 [GRCh37]
Chr6:6q14.1
likely pathogenic
NM_183050.4(BCKDHB):c.434C>T (p.Ala145Val) single nucleotide variant Maple syrup urine disease type 1B [RCV001280519] Chr6:80167768 [GRCh38]
Chr6:80877485 [GRCh37]
Chr6:6q14.1
uncertain significance
NM_183050.4(BCKDHB):c.36C>G (p.Leu12=) single nucleotide variant Maple syrup urine disease type 1B [RCV001280514] Chr6:80106729 [GRCh38]
Chr6:80816446 [GRCh37]
Chr6:6q14.1
uncertain significance
NM_183050.4(BCKDHB):c.79C>T (p.Pro27Ser) single nucleotide variant Maple syrup urine disease type 1B [RCV001280515] Chr6:80106772 [GRCh38]
Chr6:80816489 [GRCh37]
Chr6:6q14.1
uncertain significance
NC_000006.11:g.(?_80877375)_(80881127_?)dup duplication Maple syrup urine disease [RCV001320325] Chr6:80877375..80881127 [GRCh37]
Chr6:6q14.1
uncertain significance
NM_183050.4(BCKDHB):c.410C>A (p.Ala137Glu) single nucleotide variant Maple syrup urine disease [RCV001381550]|not specified [RCV001328417] Chr6:80167744 [GRCh38]
Chr6:80877461 [GRCh37]
Chr6:6q14.1
pathogenic|uncertain significance
NC_000006.11:g.(?_80816391)_(81053541_?)del deletion Maple syrup urine disease [RCV001382355] Chr6:80816391..81053541 [GRCh37]
Chr6:6q14.1
pathogenic
NM_183050.4(BCKDHB):c.48G>C (p.Ala16=) single nucleotide variant Maple syrup urine disease [RCV001396779] Chr6:80106741 [GRCh38]
Chr6:80816458 [GRCh37]
Chr6:6q14.1
likely benign
NM_183050.4(BCKDHB):c.1002A>G (p.Thr334=) single nucleotide variant Maple syrup urine disease [RCV001414648] Chr6:80273185 [GRCh38]
Chr6:80982902 [GRCh37]
Chr6:6q14.1
likely benign
NM_183050.4(BCKDHB):c.77T>C (p.Leu26Pro) single nucleotide variant Maple syrup urine disease [RCV001361385] Chr6:80106770 [GRCh38]
Chr6:80816487 [GRCh37]
Chr6:6q14.1
uncertain significance
NM_183050.4(BCKDHB):c.827C>G (p.Ala276Gly) single nucleotide variant Maple syrup urine disease [RCV001347289] Chr6:80201018 [GRCh38]
Chr6:80910735 [GRCh37]
Chr6:6q14.1
uncertain significance
NM_183050.4(BCKDHB):c.268A>G (p.Thr90Ala) single nucleotide variant Maple syrup urine disease type 1B [RCV001280518] Chr6:80127618 [GRCh38]
Chr6:80837335 [GRCh37]
Chr6:6q14.1
uncertain significance
NM_183050.4(BCKDHB):c.1025G>C (p.Ser342Thr) single nucleotide variant Maple syrup urine disease type 1B [RCV001280522] Chr6:80273208 [GRCh38]
Chr6:80982925 [GRCh37]
Chr6:6q14.1
uncertain significance
NM_183050.4(BCKDHB):c.1133A>G (p.Asp378Gly) single nucleotide variant Maple syrup urine disease [RCV001315107] Chr6:80343758 [GRCh38]
Chr6:81053475 [GRCh37]
Chr6:6q14.1
uncertain significance
NM_183050.4(BCKDHB):c.1039-10C>G single nucleotide variant Maple syrup urine disease [RCV001305532] Chr6:80343654 [GRCh38]
Chr6:81053371 [GRCh37]
Chr6:6q14.1
uncertain significance
NM_183050.4(BCKDHB):c.25G>A (p.Gly9Ser) single nucleotide variant Maple syrup urine disease type 1B [RCV001280513]|not provided [RCV001357758] Chr6:80106718 [GRCh38]
Chr6:80816435 [GRCh37]
Chr6:6q14.1
benign|uncertain significance
NM_183050.4(BCKDHB):c.315A>G (p.Arg105=) single nucleotide variant Maple syrup urine disease [RCV001314945] Chr6:80129201 [GRCh38]
Chr6:80838918 [GRCh37]
Chr6:6q14.1
uncertain significance
NM_183050.4(BCKDHB):c.743-8G>C single nucleotide variant Maple syrup urine disease [RCV001396419] Chr6:80200926 [GRCh38]
Chr6:80910643 [GRCh37]
Chr6:6q14.1
likely benign
NM_183050.4(BCKDHB):c.634-10G>A single nucleotide variant Maple syrup urine disease [RCV001394763] Chr6:80171272 [GRCh38]
Chr6:80880989 [GRCh37]
Chr6:6q14.1
likely benign
NM_183050.4(BCKDHB):c.555T>A (p.Pro185=) single nucleotide variant Maple syrup urine disease [RCV001414217] Chr6:80168952 [GRCh38]
Chr6:80878669 [GRCh37]
Chr6:6q14.1
likely benign
NM_183050.4(BCKDHB):c.768C>T (p.Tyr256=) single nucleotide variant Maple syrup urine disease [RCV001421424] Chr6:80200959 [GRCh38]
Chr6:80910676 [GRCh37]
Chr6:6q14.1
likely benign
NM_183050.4(BCKDHB):c.714T>C (p.Phe238=) single nucleotide variant Maple syrup urine disease [RCV001468301] Chr6:80171362 [GRCh38]
Chr6:80881079 [GRCh37]
Chr6:6q14.1
likely benign
NM_183050.4(BCKDHB):c.234_249del (p.Ser79fs) deletion Maple syrup urine disease [RCV001384968] Chr6:80127580..80127595 [GRCh38]
Chr6:80837297..80837312 [GRCh37]
Chr6:6q14.1
pathogenic
NM_183050.4(BCKDHB):c.253T>C (p.Leu85=) single nucleotide variant Maple syrup urine disease [RCV001404780] Chr6:80127603 [GRCh38]
Chr6:80837320 [GRCh37]
Chr6:6q14.1
likely benign
NM_183050.4(BCKDHB):c.516G>A (p.Gly172=) single nucleotide variant Maple syrup urine disease [RCV001451473] Chr6:80168913 [GRCh38]
Chr6:80878630 [GRCh37]
Chr6:6q14.1
likely benign
NM_183050.4(BCKDHB):c.344-4T>G single nucleotide variant Maple syrup urine disease [RCV001478872] Chr6:80167674 [GRCh38]
Chr6:80877391 [GRCh37]
Chr6:6q14.1
likely benign
NM_183050.4(BCKDHB):c.72T>G (p.Arg24=) single nucleotide variant Maple syrup urine disease [RCV001454502] Chr6:80106765 [GRCh38]
Chr6:80816482 [GRCh37]
Chr6:6q14.1
likely benign
NM_183050.4(BCKDHB):c.861A>G (p.Val287=) single nucleotide variant Maple syrup urine disease [RCV001474190] Chr6:80203122 [GRCh38]
Chr6:80912839 [GRCh37]
Chr6:6q14.1
likely benign
NM_183050.4(BCKDHB):c.24C>G (p.Ala8=) single nucleotide variant Maple syrup urine disease [RCV001483552] Chr6:80106717 [GRCh38]
Chr6:80816434 [GRCh37]
Chr6:6q14.1
likely benign
NM_183050.4(BCKDHB):c.474T>C (p.Asp158=) single nucleotide variant Maple syrup urine disease [RCV001469493] Chr6:80167808 [GRCh38]
Chr6:80877525 [GRCh37]
Chr6:6q14.1
likely benign
NM_183050.4(BCKDHB):c.322dup (p.Val108fs) duplication Maple syrup urine disease [RCV001390691] Chr6:80129207..80129208 [GRCh38]
Chr6:80838924..80838925 [GRCh37]
Chr6:6q14.1
pathogenic
NM_183050.4(BCKDHB):c.102C>T (p.Gly34=) single nucleotide variant Maple syrup urine disease [RCV001471880] Chr6:80106795 [GRCh38]
Chr6:80816512 [GRCh37]
Chr6:6q14.1
likely benign
NM_183050.4(BCKDHB):c.657C>T (p.Phe219=) single nucleotide variant Maple syrup urine disease [RCV001475810] Chr6:80171305 [GRCh38]
Chr6:80881022 [GRCh37]
Chr6:6q14.1
likely benign
NM_183050.4(BCKDHB):c.369A>G (p.Pro123=) single nucleotide variant Maple syrup urine disease [RCV001484467] Chr6:80167703 [GRCh38]
Chr6:80877420 [GRCh37]
Chr6:6q14.1
likely benign
NM_183050.4(BCKDHB):c.478-6C>T single nucleotide variant Maple syrup urine disease [RCV001485952] Chr6:80168869 [GRCh38]
Chr6:80878586 [GRCh37]
Chr6:6q14.1
likely benign
NM_183050.4(BCKDHB):c.765A>T (p.Pro255=) single nucleotide variant Maple syrup urine disease [RCV001493304] Chr6:80200956 [GRCh38]
Chr6:80910673 [GRCh37]
Chr6:6q14.1
likely benign
NM_183050.4(BCKDHB):c.274+8T>G single nucleotide variant Maple syrup urine disease [RCV001472674] Chr6:80127632 [GRCh38]
Chr6:80837349 [GRCh37]
Chr6:6q14.1
likely benign
NM_183050.4(BCKDHB):c.636G>A (p.Val212=) single nucleotide variant Maple syrup urine disease [RCV001481660] Chr6:80171284 [GRCh38]
Chr6:80881001 [GRCh37]
Chr6:6q14.1
likely benign
NM_183050.4(BCKDHB):c.274+10A>T single nucleotide variant Maple syrup urine disease [RCV001457141] Chr6:80127634 [GRCh38]
Chr6:80837351 [GRCh37]
Chr6:6q14.1
likely benign
NM_183050.4(BCKDHB):c.504C>T (p.Arg168=) single nucleotide variant Maple syrup urine disease [RCV001471285] Chr6:80168901 [GRCh38]
Chr6:80878618 [GRCh37]
Chr6:6q14.1
likely benign
NM_183050.4(BCKDHB):c.651C>T (p.Ser217=) single nucleotide variant Maple syrup urine disease [RCV001427149] Chr6:80171299 [GRCh38]
Chr6:80881016 [GRCh37]
Chr6:6q14.1
likely benign
NM_183050.4(BCKDHB):c.951+7A>C single nucleotide variant Maple syrup urine disease [RCV001401642] Chr6:80203219 [GRCh38]
Chr6:80912936 [GRCh37]
Chr6:6q14.1
likely benign
NM_183050.4(BCKDHB):c.495C>T (p.Ala165=) single nucleotide variant Maple syrup urine disease [RCV001401659] Chr6:80168892 [GRCh38]
Chr6:80878609 [GRCh37]
Chr6:6q14.1
likely benign
NM_183050.4(BCKDHB):c.681A>C (p.Ser227=) single nucleotide variant Maple syrup urine disease [RCV001469048] Chr6:80171329 [GRCh38]
Chr6:80881046 [GRCh37]
Chr6:6q14.1
likely benign
NM_183050.4(BCKDHB):c.1038+8A>T single nucleotide variant Maple syrup urine disease [RCV001435246] Chr6:80273229 [GRCh38]
Chr6:80982946 [GRCh37]
Chr6:6q14.1
likely benign
NM_183050.4(BCKDHB):c.24C>A (p.Ala8=) single nucleotide variant Maple syrup urine disease [RCV001443237] Chr6:80106717 [GRCh38]
Chr6:80816434 [GRCh37]
Chr6:6q14.1
likely benign
NM_183050.4(BCKDHB):c.743-15del deletion Maple syrup urine disease [RCV001409491] Chr6:80200918 [GRCh38]
Chr6:80910635 [GRCh37]
Chr6:6q14.1
likely benign
NM_183050.4(BCKDHB):c.42C>T (p.Leu14=) single nucleotide variant Maple syrup urine disease [RCV001412019] Chr6:80106735 [GRCh38]
Chr6:80816452 [GRCh37]
Chr6:6q14.1
likely benign
NM_183050.4(BCKDHB):c.952-151G>A single nucleotide variant Maple syrup urine disease [RCV001530521]|not provided [RCV001615247] Chr6:80272984 [GRCh38]
Chr6:80982701 [GRCh37]
Chr6:6q14.1
benign
NM_183050.4(BCKDHB):c.678G>A (p.Leu226=) single nucleotide variant Maple syrup urine disease [RCV001428862] Chr6:80171326 [GRCh38]
Chr6:80881043 [GRCh37]
Chr6:6q14.1
likely benign
NM_183050.4(BCKDHB):c.174A>G (p.Pro58=) single nucleotide variant Maple syrup urine disease [RCV001448966] Chr6:80106867 [GRCh38]
Chr6:80816584 [GRCh37]
Chr6:6q14.1
likely benign
NM_183050.4(BCKDHB):c.15G>A (p.Ala5=) single nucleotide variant Maple syrup urine disease [RCV001407554] Chr6:80106708 [GRCh38]
Chr6:80816425 [GRCh37]
Chr6:6q14.1
likely benign
NM_183050.4(BCKDHB):c.478-9G>A single nucleotide variant Maple syrup urine disease [RCV001418083] Chr6:80168866 [GRCh38]
Chr6:80878583 [GRCh37]
Chr6:6q14.1
likely benign
NM_183050.4(BCKDHB):c.196G>A (p.Gly66Arg) single nucleotide variant Maple syrup urine disease [RCV001380845] Chr6:80106889 [GRCh38]
Chr6:80816606 [GRCh37]
Chr6:6q14.1
pathogenic
NM_183050.4(BCKDHB):c.861A>T (p.Val287=) single nucleotide variant Maple syrup urine disease [RCV001399564] Chr6:80203122 [GRCh38]
Chr6:80912839 [GRCh37]
Chr6:6q14.1
likely benign
NM_183050.4(BCKDHB):c.1092C>T (p.Asp364=) single nucleotide variant Maple syrup urine disease [RCV001426773] Chr6:80343717 [GRCh38]
Chr6:81053434 [GRCh37]
Chr6:6q14.1
likely benign
NM_183050.4(BCKDHB):c.841-9T>G single nucleotide variant Maple syrup urine disease [RCV001434199] Chr6:80203093 [GRCh38]
Chr6:80912810 [GRCh37]
Chr6:6q14.1
likely benign
NM_183050.4(BCKDHB):c.27C>G (p.Gly9=) single nucleotide variant Maple syrup urine disease [RCV001405685] Chr6:80106720 [GRCh38]
Chr6:80816437 [GRCh37]
Chr6:6q14.1
likely benign
NM_183050.4(BCKDHB):c.1039-5T>C single nucleotide variant Maple syrup urine disease [RCV001408335] Chr6:80343659 [GRCh38]
Chr6:81053376 [GRCh37]
Chr6:6q14.1
likely benign
NM_183050.4(BCKDHB):c.1095A>G (p.Thr365=) single nucleotide variant Maple syrup urine disease [RCV001408801] Chr6:80343720 [GRCh38]
Chr6:81053437 [GRCh37]
Chr6:6q14.1
likely benign
NM_183050.4(BCKDHB):c.573T>C (p.His191=) single nucleotide variant Maple syrup urine disease [RCV001431892] Chr6:80168970 [GRCh38]
Chr6:80878687 [GRCh37]
Chr6:6q14.1
likely benign
NM_183050.4(BCKDHB):c.743-8G>A single nucleotide variant Maple syrup urine disease [RCV001490261] Chr6:80200926 [GRCh38]
Chr6:80910643 [GRCh37]
Chr6:6q14.1
likely benign
NM_183050.4(BCKDHB):c.43A>C (p.Arg15=) single nucleotide variant Maple syrup urine disease [RCV001502949] Chr6:80106736 [GRCh38]
Chr6:80816453 [GRCh37]
Chr6:6q14.1
likely benign
NM_183050.4(BCKDHB):c.1038+274T>A single nucleotide variant not provided [RCV001693786] Chr6:80273495 [GRCh38]
Chr6:80983212 [GRCh37]
Chr6:6q14.1
benign
NM_183050.4(BCKDHB):c.333A>G (p.Arg111=) single nucleotide variant Maple syrup urine disease [RCV001458966] Chr6:80129219 [GRCh38]
Chr6:80838936 [GRCh37]
Chr6:6q14.1
likely benign
NM_183050.4(BCKDHB):c.634-6T>C single nucleotide variant Maple syrup urine disease [RCV001480206] Chr6:80171276 [GRCh38]
Chr6:80880993 [GRCh37]
Chr6:6q14.1
likely benign
NM_183050.4(BCKDHB):c.196+7C>T single nucleotide variant Maple syrup urine disease [RCV001463319] Chr6:80106896 [GRCh38]
Chr6:80816613 [GRCh37]
Chr6:6q14.1
likely benign
NM_183050.4(BCKDHB):c.483T>C (p.Val161=) single nucleotide variant Maple syrup urine disease [RCV001503980] Chr6:80168880 [GRCh38]
Chr6:80878597 [GRCh37]
Chr6:6q14.1
likely benign
NM_183050.4(BCKDHB):c.634-5del deletion Maple syrup urine disease [RCV001512178] Chr6:80171273 [GRCh38]
Chr6:80880990 [GRCh37]
Chr6:6q14.1
benign
NM_183050.4(BCKDHB):c.12A>G (p.Val4=) single nucleotide variant Maple syrup urine disease [RCV001453046] Chr6:80106705 [GRCh38]
Chr6:80816422 [GRCh37]
Chr6:6q14.1
likely benign
NM_183050.4(BCKDHB):c.841-306C>T single nucleotide variant not provided [RCV001685165] Chr6:80202796 [GRCh38]
Chr6:80912513 [GRCh37]
Chr6:6q14.1
benign
NM_183050.4(BCKDHB):c.378A>G (p.Glu126=) single nucleotide variant Maple syrup urine disease [RCV001453115] Chr6:80167712 [GRCh38]
Chr6:80877429 [GRCh37]
Chr6:6q14.1
likely benign
NM_183050.4(BCKDHB):c.258C>T (p.Ala86=) single nucleotide variant Maple syrup urine disease [RCV001467660] Chr6:80127608 [GRCh38]
Chr6:80837325 [GRCh37]
Chr6:6q14.1
likely benign
NM_183050.4(BCKDHB):c.615C>T (p.Ala205=) single nucleotide variant Maple syrup urine disease [RCV001472137] Chr6:80169012 [GRCh38]
Chr6:80878729 [GRCh37]
Chr6:6q14.1
likely benign
NM_183050.4(BCKDHB):c.344-88C>T single nucleotide variant Maple syrup urine disease [RCV001530489]|not provided [RCV001615245] Chr6:80167590 [GRCh38]
Chr6:80877307 [GRCh37]
Chr6:6q14.1
benign|likely benign
NM_183050.4(BCKDHB):c.432T>C (p.Ile144=) single nucleotide variant Maple syrup urine disease [RCV001442044] Chr6:80167766 [GRCh38]
Chr6:80877483 [GRCh37]
Chr6:6q14.1
likely benign
NM_183050.4(BCKDHB):c.344-9T>C single nucleotide variant Maple syrup urine disease [RCV001495602] Chr6:80167669 [GRCh38]
Chr6:80877386 [GRCh37]
Chr6:6q14.1
likely benign
NM_183050.4(BCKDHB):c.976C>T (p.Leu326=) single nucleotide variant Maple syrup urine disease [RCV001497727] Chr6:80273159 [GRCh38]
Chr6:80982876 [GRCh37]
Chr6:6q14.1
likely benign
NM_183050.4(BCKDHB):c.197-5C>T single nucleotide variant Maple syrup urine disease [RCV001470113] Chr6:80127542 [GRCh38]
Chr6:80837259 [GRCh37]
Chr6:6q14.1
likely benign
NM_183050.4(BCKDHB):c.15G>C (p.Ala5=) single nucleotide variant Maple syrup urine disease [RCV001453773] Chr6:80106708 [GRCh38]
Chr6:80816425 [GRCh37]
Chr6:6q14.1
likely benign
NM_183050.4(BCKDHB):c.1032A>G (p.Thr344=) single nucleotide variant Maple syrup urine disease [RCV001453217] Chr6:80273215 [GRCh38]
Chr6:80982932 [GRCh37]
Chr6:6q14.1
likely benign
NM_183050.4(BCKDHB):c.840+10A>G single nucleotide variant Maple syrup urine disease [RCV001459643] Chr6:80201041 [GRCh38]
Chr6:80910758 [GRCh37]
Chr6:6q14.1
likely benign
NM_183050.4(BCKDHB):c.117C>T (p.Ala39=) single nucleotide variant Maple syrup urine disease [RCV001496372] Chr6:80106810 [GRCh38]
Chr6:80816527 [GRCh37]
Chr6:6q14.1
likely benign
NM_183050.4(BCKDHB):c.396del (p.Phe132fs) deletion Maple syrup urine disease [RCV001385404] Chr6:80167728 [GRCh38]
Chr6:80877445 [GRCh37]
Chr6:6q14.1
pathogenic
NM_183050.4(BCKDHB):c.331C>A (p.Arg111=) single nucleotide variant Maple syrup urine disease [RCV001432926] Chr6:80129217 [GRCh38]
Chr6:80838934 [GRCh37]
Chr6:6q14.1
likely benign
NM_183050.4(BCKDHB):c.285T>C (p.Gly95=) single nucleotide variant Maple syrup urine disease [RCV001489040] Chr6:80129171 [GRCh38]
Chr6:80838888 [GRCh37]
Chr6:6q14.1
likely benign
NM_183050.4(BCKDHB):c.6G>A (p.Ala2=) single nucleotide variant Maple syrup urine disease [RCV001483989] Chr6:80106699 [GRCh38]
Chr6:80816416 [GRCh37]
Chr6:6q14.1
likely benign
NM_183050.4(BCKDHB):c.96G>A (p.Ala32=) single nucleotide variant Maple syrup urine disease [RCV001450467] Chr6:80106789 [GRCh38]
Chr6:80816506 [GRCh37]
Chr6:6q14.1
likely benign
NM_183050.4(BCKDHB):c.111C>T (p.His37=) single nucleotide variant Maple syrup urine disease [RCV001502659] Chr6:80106804 [GRCh38]
Chr6:80816521 [GRCh37]
Chr6:6q14.1
likely benign
NM_183050.4(BCKDHB):c.63G>C (p.Gly21=) single nucleotide variant Maple syrup urine disease [RCV001424548] Chr6:80106756 [GRCh38]
Chr6:80816473 [GRCh37]
Chr6:6q14.1
likely benign
NM_183050.4(BCKDHB):c.1158T>G (p.Leu386=) single nucleotide variant Maple syrup urine disease [RCV001452687] Chr6:80343783 [GRCh38]
Chr6:81053500 [GRCh37]
Chr6:6q14.1
likely benign
NM_183050.4(BCKDHB):c.731A>C (p.Tyr244Ser) single nucleotide variant not provided [RCV001727369] Chr6:80171379 [GRCh38]
Chr6:80881096 [GRCh37]
Chr6:6q14.1
likely pathogenic
NM_183050.4(BCKDHB):c.329_330delinsAA (p.Leu110Ter) indel Maple syrup urine disease [RCV001775053] Chr6:80129215..80129216 [GRCh38]
Chr6:80838932..80838933 [GRCh37]
Chr6:6q14.1
likely pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:987 AgrOrtholog
COSMIC BCKDHB COSMIC
Ensembl Genes ENSG00000083123 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000318351 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000348880 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000358775 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000320393 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000356489 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000369760 UniProtKB/Swiss-Prot
Gene3D-CATH 3.40.50.920 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000083123 GTEx
HGNC ID HGNC:987 ENTREZGENE
Human Proteome Map BCKDHB Human Proteome Map
InterPro THDP-binding UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Transketo_C/PFOR_II UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Transketolase-like_Pyr-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Transketolase_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:594 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 594 ENTREZGENE
OMIM 248600 OMIM
  248611 OMIM
Pfam Transket_pyr UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Transketolase_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA25298 PharmGKB
SMART Transket_pyr UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF52518 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF52922 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0K2GN21_HUMAN UniProtKB/TrEMBL
  A0A140VKB3 ENTREZGENE, UniProtKB/TrEMBL
  B4E2N3 ENTREZGENE, UniProtKB/TrEMBL
  B7ZB80 ENTREZGENE, UniProtKB/TrEMBL
  ODBB_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary Q5T2J3 UniProtKB/Swiss-Prot
  Q9BQL0 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-07-12 BCKDHB  branched chain keto acid dehydrogenase E1 subunit beta    branched chain keto acid dehydrogenase E1, beta polypeptide  Symbol and/or name change 5135510 APPROVED
2011-08-17 BCKDHB  branched chain keto acid dehydrogenase E1, beta polypeptide  BCKDHB  branched chain keto acid dehydrogenase E1, beta polypeptide  Symbol and/or name change 5135510 APPROVED