BCKDHA (branched chain keto acid dehydrogenase E1 subunit alpha) - Rat Genome Database

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Gene: BCKDHA (branched chain keto acid dehydrogenase E1 subunit alpha) Homo sapiens
Analyze
Symbol: BCKDHA
Name: branched chain keto acid dehydrogenase E1 subunit alpha
RGD ID: 734102
HGNC Page HGNC
Description: Exhibits alpha-ketoacid dehydrogenase activity. Involved in branched-chain amino acid catabolic process. Localizes to mitochondrial alpha-ketoglutarate dehydrogenase complex. Implicated in maple syrup urine disease.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: 2-oxoisovalerate dehydrogenase (lipoamide); 2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial; BCKDE1A; BCKDH E1-alpha; branched chain keto acid dehydrogenase E1, alpha polypeptide; branched-chain alpha-keto acid dehydrogenase E1 component alpha chain; FLJ45695; MSU; MSUD1; OVD1A
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 Ensembl1941,397,808 - 41,425,002 (+)EnsemblGRCh38hg38GRCh38
GRCh381941,397,818 - 41,425,002 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371941,903,723 - 41,930,907 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361946,595,544 - 46,622,750 (+)NCBINCBI36hg18NCBI36
Build 341946,595,543 - 46,622,749NCBI
Celera1938,703,549 - 38,730,745 (+)NCBI
Cytogenetic Map19q13.2NCBI
HuRef1938,335,417 - 38,362,686 (+)NCBIHuRef
CHM1_11941,903,371 - 41,930,595 (+)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

References

Additional References at PubMed
PMID:1356170   PMID:1420356   PMID:1682165   PMID:1861457   PMID:1867199   PMID:1885764   PMID:1889817   PMID:2060625   PMID:2241958   PMID:2703538   PMID:2805821   PMID:2914958  
PMID:3224821   PMID:3379058   PMID:7883996   PMID:7918575   PMID:8161368   PMID:8889548   PMID:9582350   PMID:10745006   PMID:11839747   PMID:12477932   PMID:12812918   PMID:12902323  
PMID:15166214   PMID:15322287   PMID:15489334   PMID:15576032   PMID:16757574   PMID:17081983   PMID:17353931   PMID:17922217   PMID:18378174   PMID:19085071   PMID:19456321   PMID:19480318  
PMID:19715473   PMID:20136525   PMID:20301495   PMID:20431954   PMID:20833797   PMID:20877624   PMID:21145461   PMID:21532586   PMID:21844576   PMID:21873635   PMID:22593002   PMID:22956686  
PMID:23729548   PMID:24268812   PMID:24603436   PMID:26186194   PMID:26453840   PMID:26496610   PMID:26830710   PMID:27025967   PMID:27173435   PMID:27432908   PMID:27499296   PMID:27542412  
PMID:27880917   PMID:28330616   PMID:28514442   PMID:29306928   PMID:29307017   PMID:29568061   PMID:29673582   PMID:30021884   PMID:30463901   PMID:30619736   PMID:30833792   PMID:31056398  
PMID:31091453   PMID:31536960   PMID:31586073   PMID:31617661   PMID:31753913   PMID:32877691  


Genomics

Comparative Map Data
BCKDHA
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1941,397,808 - 41,425,002 (+)EnsemblGRCh38hg38GRCh38
GRCh381941,397,818 - 41,425,002 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371941,903,723 - 41,930,907 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361946,595,544 - 46,622,750 (+)NCBINCBI36hg18NCBI36
Build 341946,595,543 - 46,622,749NCBI
Celera1938,703,549 - 38,730,745 (+)NCBI
Cytogenetic Map19q13.2NCBI
HuRef1938,335,417 - 38,362,686 (+)NCBIHuRef
CHM1_11941,903,371 - 41,930,595 (+)NCBICHM1_1
Bckdha
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39725,329,277 - 25,358,209 (-)NCBIGRCm39mm39
GRCm39 Ensembl725,329,371 - 25,358,406 (-)Ensembl
GRCm38725,629,852 - 25,658,782 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl725,629,946 - 25,658,981 (-)EnsemblGRCm38mm10GRCm38
MGSCv37726,414,871 - 26,443,780 (-)NCBIGRCm37mm9NCBIm37
MGSCv36725,338,706 - 25,367,498 (-)NCBImm8
Celera720,238,873 - 20,267,674 (-)NCBICelera
Cytogenetic Map7A3NCBI
Bckdha
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2181,138,946 - 81,167,765 (-)NCBI
Rnor_6.0 Ensembl182,423,277 - 82,452,281 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0182,423,291 - 82,452,094 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0183,684,796 - 83,713,671 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4180,837,906 - 80,866,672 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1180,916,017 - 80,944,767 (-)NCBI
Celera175,579,300 - 75,595,435 (-)NCBICelera
Cytogenetic Map1q21NCBI
Bckdha
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_004955555334,253 - 357,417 (+)NCBIChiLan1.0ChiLan1.0
BCKDHA
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11946,898,024 - 46,925,171 (+)NCBIpanpan1.1PanPan1.1panPan2
Mhudiblu_PPA_v01938,391,618 - 38,418,826 (+)NCBIMhudiblu_PPA_v0panPan3
BCKDHA
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11112,579,345 - 112,599,163 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1111,983,522 - 112,003,339 (-)NCBI
ROS_Cfam_1.01113,177,443 - 113,197,277 (-)NCBI
UMICH_Zoey_3.11112,738,731 - 112,758,552 (-)NCBI
UNSW_CanFamBas_1.01112,371,075 - 112,390,893 (-)NCBI
UU_Cfam_GSD_1.01113,364,328 - 113,384,163 (-)NCBI
Bckdha
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934915,371,915 - 15,389,480 (+)NCBI
SpeTri2.0NW_0049366613,799,998 - 3,817,560 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
BCKDHA
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1649,381,995 - 49,398,745 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2645,273,884 - 45,290,452 (+)NCBISscrofa10.2Sscrofa10.2susScr3
BCKDHA
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1635,717,679 - 35,747,245 (+)NCBI
Bckdha
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624907203,819 - 225,334 (+)NCBI

Position Markers
GDB:375700  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371941,916,502 - 41,916,821UniSTSGRCh37
Build 361946,608,342 - 46,608,661RGDNCBI36
Celera1938,716,359 - 38,716,678RGD
Cytogenetic Map19q13.1-q13.2UniSTS
HuRef1938,348,280 - 38,348,599UniSTS
GDB:375706  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371941,928,477 - 41,928,716UniSTSGRCh37
Build 361946,620,317 - 46,620,556RGDNCBI36
Celera1938,728,311 - 38,728,550RGD
Cytogenetic Map19q13.1-q13.2UniSTS
HuRef1938,360,251 - 38,360,490UniSTS
GDB:375709  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371941,930,313 - 41,930,556UniSTSGRCh37
Build 361946,622,153 - 46,622,396RGDNCBI36
Celera1938,730,148 - 38,730,391RGD
Cytogenetic Map19q13.1-q13.2UniSTS
HuRef1938,362,089 - 38,362,332UniSTS
SHGC-24398  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371941,937,254 - 41,937,361UniSTSGRCh37
Build 361946,629,094 - 46,629,201RGDNCBI36
Celera1938,737,105 - 38,737,212RGD
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
HuRef1938,368,841 - 38,368,948UniSTS
Stanford-G3 RH Map191856.0UniSTS
NCBI RH Map19426.1UniSTS
GeneMap99-G3 RH Map191867.0UniSTS
BCKDHA_8227  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371941,930,405 - 41,930,993UniSTSGRCh37
Build 361946,622,245 - 46,622,833RGDNCBI36
Celera1938,730,240 - 38,730,828RGD
HuRef1938,362,181 - 38,362,769UniSTS
A007H11  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371941,930,614 - 41,930,756UniSTSGRCh37
Build 361946,622,454 - 46,622,596RGDNCBI36
Celera1938,730,449 - 38,730,591RGD
Cytogenetic Map19q13.1-q13.2UniSTS
HuRef1938,362,390 - 38,362,532UniSTS
GeneMap99-GB4 RH Map19240.9UniSTS
NCBI RH Map19426.3UniSTS
IB1022  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371941,937,309 - 41,937,513UniSTSGRCh37
Build 361946,629,149 - 46,629,353RGDNCBI36
Celera1938,737,160 - 38,737,364RGD
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
HuRef1938,368,896 - 38,369,100UniSTS
GeneMap99-GB4 RH Map19240.61UniSTS
Whitehead-RH Map19316.7UniSTS
NCBI RH Map19426.3UniSTS
G20507  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371941,937,229 - 41,937,361UniSTSGRCh37
Build 361946,629,069 - 46,629,201RGDNCBI36
Celera1938,737,080 - 38,737,212RGD
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
HuRef1938,368,816 - 38,368,948UniSTS
A005U20  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371941,937,229 - 41,937,361UniSTSGRCh37
Build 361946,629,069 - 46,629,201RGDNCBI36
Celera1938,737,080 - 38,737,212RGD
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
HuRef1938,368,816 - 38,368,948UniSTS
GeneMap99-GB4 RH Map19239.84UniSTS
NCBI RH Map19426.3UniSTS
RH35849  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371941,937,342 - 41,937,502UniSTSGRCh37
Build 361946,629,182 - 46,629,342RGDNCBI36
Celera1938,737,193 - 38,737,353RGD
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
HuRef1938,368,929 - 38,369,089UniSTS
GeneMap99-GB4 RH Map19238.01UniSTS
NCBI RH Map19419.6UniSTS
SHGC-12313  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371941,930,547 - 41,930,882UniSTSGRCh37
Build 361946,622,387 - 46,622,722RGDNCBI36
Celera1938,730,382 - 38,730,717RGD
Cytogenetic Map19q13.1-q13.2UniSTS
HuRef1938,362,323 - 38,362,658UniSTS
GeneMap99-G3 RH Map191872.0UniSTS
BCKDHA  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371941,928,638 - 41,929,073UniSTSGRCh37
Celera1938,728,472 - 38,728,907UniSTS
HuRef1938,360,412 - 38,360,848UniSTS
G54154  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map19q13.1-q13.2UniSTS
GDB:375712  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371941,928,907 - 41,930,556UniSTSGRCh37
Celera1938,728,741 - 38,730,391UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
HuRef1938,360,682 - 38,362,332UniSTS
MARC_7273-7274:996687712:3  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371941,928,220 - 41,928,934UniSTSGRCh37
Celera1938,728,054 - 38,728,768UniSTS
HuRef1938,359,994 - 38,360,709UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2859
Count of miRNA genes:740
Interacting mature miRNAs:868
Transcripts:ENST00000269980, ENST00000457836, ENST00000535632, ENST00000538423, ENST00000541315, ENST00000542943, ENST00000544905, ENST00000545787, ENST00000595085
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 2230 2841 1444 397 1193 234 4061 2066 3300 150 1186 1281 168 1 1202 2786 2 2
Low 208 133 246 193 739 197 295 129 403 249 243 330 6 2 2 4
Below cutoff 1 14 34 32 16 32 1 24 20 30 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_013004 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000709 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001164783 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB209828 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC011462 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH003707 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH003771 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298188 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313300 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL833143 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC007878 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC008933 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC023983 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE223026 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG742673 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI910860 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM702667 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ018849 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471126 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  J04474 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT223000 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT223001 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT223002 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M22221 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S38309 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z14093 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000269980   ⟹   ENSP00000269980
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1941,397,818 - 41,425,002 (+)Ensembl
RefSeq Acc Id: ENST00000457836   ⟹   ENSP00000416000
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1941,397,823 - 41,425,001 (+)Ensembl
RefSeq Acc Id: ENST00000535632
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1941,415,382 - 41,422,761 (+)Ensembl
RefSeq Acc Id: ENST00000538423
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1941,397,808 - 41,422,207 (+)Ensembl
RefSeq Acc Id: ENST00000541315   ⟹   ENSP00000445809
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1941,410,722 - 41,422,249 (+)Ensembl
RefSeq Acc Id: ENST00000542943   ⟹   ENSP00000440345
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1941,397,820 - 41,423,075 (+)Ensembl
RefSeq Acc Id: ENST00000544905   ⟹   ENSP00000445727
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1941,423,109 - 41,425,002 (+)Ensembl
RefSeq Acc Id: ENST00000545787
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1941,419,023 - 41,422,734 (+)Ensembl
RefSeq Acc Id: NM_000709   ⟹   NP_000700
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381941,397,818 - 41,425,002 (+)NCBI
GRCh371941,903,694 - 41,930,910 (+)ENTREZGENE
Build 361946,595,544 - 46,622,750 (+)NCBI Archive
HuRef1938,335,417 - 38,362,686 (+)ENTREZGENE
CHM1_11941,903,371 - 41,930,595 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001164783   ⟹   NP_001158255
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381941,397,818 - 41,425,002 (+)NCBI
GRCh371941,903,694 - 41,930,910 (+)ENTREZGENE
HuRef1938,335,417 - 38,362,686 (+)ENTREZGENE
CHM1_11941,903,371 - 41,930,595 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_000700   ⟸   NM_000709
- Peptide Label: isoform 1 precursor
- UniProtKB: P12694 (UniProtKB/Swiss-Prot),   A0A024R0K3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001158255   ⟸   NM_001164783
- Peptide Label: isoform 2 precursor
- UniProtKB: P12694 (UniProtKB/Swiss-Prot),   Q59EI3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000445809   ⟸   ENST00000541315
RefSeq Acc Id: ENSP00000440345   ⟸   ENST00000542943
RefSeq Acc Id: ENSP00000269980   ⟸   ENST00000269980
RefSeq Acc Id: ENSP00000445727   ⟸   ENST00000544905
RefSeq Acc Id: ENSP00000416000   ⟸   ENST00000457836
Protein Domains
E1_dh

Promoters
RGD ID:7240087
Promoter ID:EPDNEW_H25789
Type:multiple initiation site
Name:BCKDHA_1
Description:branched chain keto acid dehydrogenase E1, alpha polypeptide
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381941,397,818 - 41,397,878EPDNEW
RGD ID:6795476
Promoter ID:HG_KWN:30025
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:ENST00000378196,   NM_020158,   UC002OQP.1,   UC002OQQ.1,   UC002OQR.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361946,594,981 - 46,595,642 (+)MPROMDB
RGD ID:6849768
Promoter ID:EP42001
Type:multiple initiation site
Name:HS_BCKDHA
Description:Branched chain keto acid dehydrogenase E1-alpha subunit.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Nuclease protection; Sequencing of a full-length cDNA; Primer extension; NEDO full length human cDNA sequencing project.; Oligo-capping
Regulation:ubiquitous; (induced by or strongly expressed in) adipocyte differentiation
Position:
Human AssemblyChrPosition (strand)Source
Build 361946,595,563 - 46,595,623EPD

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000709.4(BCKDHA):c.647-8C>T single nucleotide variant Maple syrup urine disease [RCV000544117] Chr19:41422156 [GRCh38]
Chr19:41928061 [GRCh37]
Chr19:19q13.2
likely benign
NM_000709.4(BCKDHA):c.1312T>A (p.Tyr438Asn) single nucleotide variant Maple syrup urine disease [RCV000055825]|Maple syrup urine disease type 1A [RCV000002473]|not provided [RCV000079229] Chr19:41424582 [GRCh38]
Chr19:41930487 [GRCh37]
Chr19:19q13.2
pathogenic|likely pathogenic
BCKDHA, 8-BP DEL, 887-894 deletion Maple syrup urine disease type 1A [RCV000002474] Chr19:19q13.1-q13.2 pathogenic
NM_000709.4(BCKDHA):c.868G>A (p.Gly290Arg) single nucleotide variant MAPLE SYRUP URINE DISEASE, INTERMEDIATE, TYPE IA [RCV000002475]|Maple syrup urine disease [RCV000179775]|Maple syrup urine disease type 1A [RCV001175041]|not provided [RCV000790729] Chr19:41422643 [GRCh38]
Chr19:41928548 [GRCh37]
Chr19:19q13.2
pathogenic|likely pathogenic
NM_000709.4(BCKDHA):c.1226T>G (p.Phe409Cys) single nucleotide variant MAPLE SYRUP URINE DISEASE, INTERMEDIATE, TYPE IA [RCV000002476]|Maple syrup urine disease type 1A [RCV000002477] Chr19:41424496 [GRCh38]
Chr19:41930401 [GRCh37]
Chr19:19q13.2
pathogenic
NM_000709.4(BCKDHA):c.793C>T (p.Arg265Trp) single nucleotide variant Maple syrup urine disease type 1A [RCV000002478]|not provided [RCV000393620] Chr19:41422310 [GRCh38]
Chr19:41928215 [GRCh37]
Chr19:19q13.2
pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000709.4(BCKDHA):c.745G>A (p.Gly249Ser) single nucleotide variant Maple syrup urine disease [RCV001064270]|Maple syrup urine disease type 1A [RCV000002479] Chr19:41422262 [GRCh38]
Chr19:41928167 [GRCh37]
Chr19:19q13.2
pathogenic|likely pathogenic
NM_000709.4(BCKDHA):c.929C>G (p.Thr310Arg) single nucleotide variant Maple syrup urine disease type 1A [RCV000002480]|not provided [RCV000179776] Chr19:41422704 [GRCh38]
Chr19:41928609 [GRCh37]
Chr19:19q13.2
pathogenic
NM_000709.4(BCKDHA):c.792C>G (p.Cys264Trp) single nucleotide variant Maple syrup urine disease type 1A [RCV000002481] Chr19:41422309 [GRCh38]
Chr19:41928214 [GRCh37]
Chr19:19q13.2
pathogenic
BCKDHA, 1-BP DEL, 117C deletion Maple syrup urine disease type 1A [RCV000002482] Chr19:19q13.1-q13.2 pathogenic
NM_000709.4(BCKDHA):c.1167+4A>C single nucleotide variant Maple syrup urine disease [RCV000542512] Chr19:41423173 [GRCh38]
Chr19:41929078 [GRCh37]
Chr19:19q13.2
uncertain significance
GRCh38/hg38 19q13.12-13.2(chr19:37319377-42738688)x3 copy number gain See cases [RCV000050636] Chr19:37319377..42738688 [GRCh38]
Chr19:37810279..43242840 [GRCh37]
Chr19:42502119..47934680 [NCBI36]
Chr19:19q13.12-13.2
pathogenic
NM_000709.4(BCKDHA):c.741dup (p.Ala248fs) duplication not provided [RCV000179336] Chr19:41422257..41422258 [GRCh38]
Chr19:41928162..41928163 [GRCh37]
Chr19:19q13.2
pathogenic
NM_000709.4(BCKDHA):c.*33C>G single nucleotide variant not provided [RCV000079214] Chr19:41424641 [GRCh38]
Chr19:41930546 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_000709.3(BCKDHA):c.-34T>G single nucleotide variant Maple syrup urine disease [RCV000337766]|not specified [RCV000079215] Chr19:41397794 [GRCh38]
Chr19:41903699 [GRCh37]
Chr19:19q13.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_000709.4(BCKDHA):c.1036C>T (p.Arg346Cys) single nucleotide variant Maple syrup urine disease [RCV000180181]|not provided [RCV000790743] Chr19:41423038 [GRCh38]
Chr19:41928943 [GRCh37]
Chr19:19q13.2
pathogenic|likely pathogenic
NM_000709.4(BCKDHA):c.1037G>A (p.Arg346His) single nucleotide variant Maple syrup urine disease [RCV000180182]|not provided [RCV000790816] Chr19:41423039 [GRCh38]
Chr19:41928944 [GRCh37]
Chr19:19q13.2
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000709.4(BCKDHA):c.114C>G (p.Pro38=) single nucleotide variant Maple syrup urine disease [RCV000872031]|Maple syrup urine disease type 1A [RCV001275906]|not specified [RCV000079218] Chr19:41410642 [GRCh38]
Chr19:41916547 [GRCh37]
Chr19:19q13.2
benign
NM_000709.4(BCKDHA):c.114C>T (p.Pro38=) single nucleotide variant Maple syrup urine disease [RCV000359713]|Maple syrup urine disease type 1A [RCV001275907]|not specified [RCV000079219] Chr19:41410642 [GRCh38]
Chr19:41916547 [GRCh37]
Chr19:19q13.2
benign|likely benign
NM_000709.4(BCKDHA):c.1168-31C>T single nucleotide variant not provided [RCV000079220] Chr19:41424407 [GRCh38]
Chr19:41930312 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_000709.4(BCKDHA):c.1168-33G>A single nucleotide variant not provided [RCV000079221] Chr19:41424405 [GRCh38]
Chr19:41930310 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_000709.4(BCKDHA):c.116C>A (p.Pro39His) single nucleotide variant Maple syrup urine disease [RCV000396713]|Maple syrup urine disease type 1A [RCV001275908]|not provided [RCV000586142]|not specified [RCV000079222] Chr19:41410644 [GRCh38]
Chr19:41916549 [GRCh37]
Chr19:19q13.2
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_000709.4(BCKDHA):c.117del (p.Arg40fs) deletion Maple syrup urine disease [RCV000175640]|Maple syrup urine disease type 1A [RCV001193901]|not provided [RCV000079223] Chr19:41410639 [GRCh38]
Chr19:41916544 [GRCh37]
Chr19:19q13.2
pathogenic
NM_000709.4(BCKDHA):c.1221A>G (p.Leu407=) single nucleotide variant Maple syrup urine disease [RCV000394945]|not specified [RCV000079224] Chr19:41424491 [GRCh38]
Chr19:41930396 [GRCh37]
Chr19:19q13.2
benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_000709.4(BCKDHA):c.1234G>A (p.Val412Met) single nucleotide variant Maple syrup urine disease [RCV000180522]|Maple syrup urine disease type 1A [RCV000853374]|not provided [RCV000790815] Chr19:41424504 [GRCh38]
Chr19:41930409 [GRCh37]
Chr19:19q13.2
pathogenic|likely pathogenic
NM_000709.4(BCKDHA):c.1260C>T (p.Leu420=) single nucleotide variant Maple syrup urine disease [RCV000311470]|Maple syrup urine disease type 1A [RCV001275921]|not specified [RCV000079226] Chr19:41424530 [GRCh38]
Chr19:41930435 [GRCh37]
Chr19:19q13.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_000709.4(BCKDHA):c.1302C>A (p.Tyr434Ter) single nucleotide variant not provided [RCV000180524] Chr19:41424572 [GRCh38]
Chr19:41930477 [GRCh37]
Chr19:19q13.2
pathogenic
NM_000709.4(BCKDHA):c.1310_1311del (p.His437fs) deletion not provided [RCV000180523] Chr19:41424579..41424580 [GRCh38]
Chr19:41930484..41930485 [GRCh37]
Chr19:19q13.2
pathogenic
NM_000709.4(BCKDHA):c.1314C>A (p.Tyr438Ter) single nucleotide variant not provided [RCV000180521] Chr19:41424584 [GRCh38]
Chr19:41930489 [GRCh37]
Chr19:19q13.2
pathogenic
NM_000709.4(BCKDHA):c.14del (p.Ile5fs) deletion not provided [RCV000173164] Chr19:41397841 [GRCh38]
Chr19:41903746 [GRCh37]
Chr19:19q13.2
pathogenic
NM_000709.4(BCKDHA):c.249C>T (p.Asp83=) single nucleotide variant not provided [RCV000079232] Chr19:41410777 [GRCh38]
Chr19:41916682 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_000709.4(BCKDHA):c.288+1G>A single nucleotide variant Maple syrup urine disease [RCV000175639]|Maple syrup urine disease type 1A [RCV001275909]|not provided [RCV000079233] Chr19:41410817 [GRCh38]
Chr19:41916722 [GRCh37]
Chr19:19q13.2
pathogenic|likely pathogenic
NM_000709.4(BCKDHA):c.288+9C>T single nucleotide variant Maple syrup urine disease [RCV000175638]|Maple syrup urine disease type 1A [RCV001275910]|not provided [RCV000790795] Chr19:41410825 [GRCh38]
Chr19:41916730 [GRCh37]
Chr19:19q13.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000709.4(BCKDHA):c.288C>T (p.His96=) single nucleotide variant Maple syrup urine disease [RCV000270845]|Maple syrup urine disease type 1A [RCV001273301]|not provided [RCV000723410]|not specified [RCV000079235] Chr19:41410816 [GRCh38]
Chr19:41916721 [GRCh37]
Chr19:19q13.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000709.4(BCKDHA):c.347A>G (p.Asp116Gly) single nucleotide variant Maple syrup urine disease [RCV001283813]|not provided [RCV000079236] Chr19:41410981 [GRCh38]
Chr19:41916886 [GRCh37]
Chr19:19q13.2
pathogenic|uncertain significance
NM_000709.4(BCKDHA):c.34C>A (p.Arg12=) single nucleotide variant Maple syrup urine disease [RCV000539282]|Maple syrup urine disease type 1A [RCV001275904]|not specified [RCV000079237] Chr19:41397861 [GRCh38]
Chr19:41903766 [GRCh37]
Chr19:19q13.2
benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_000709.4(BCKDHA):c.370C>T (p.Arg124Trp) single nucleotide variant not provided [RCV000177087] Chr19:41411004 [GRCh38]
Chr19:41916909 [GRCh37]
Chr19:19q13.2
likely pathogenic
NM_000709.4(BCKDHA):c.376-10A>C single nucleotide variant Maple syrup urine disease [RCV000365760]|not specified [RCV000079239] Chr19:41414039 [GRCh38]
Chr19:41919944 [GRCh37]
Chr19:19q13.2
benign
NM_000709.4(BCKDHA):c.376-20G>A single nucleotide variant not provided [RCV000079240] Chr19:41414029 [GRCh38]
Chr19:41919934 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_000709.4(BCKDHA):c.376-4C>T single nucleotide variant Maple syrup urine disease [RCV000555306]|Maple syrup urine disease type 1A [RCV001275911]|not specified [RCV000079241] Chr19:41414045 [GRCh38]
Chr19:41919950 [GRCh37]
Chr19:19q13.2
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000709.4(BCKDHA):c.376-8A>C single nucleotide variant not specified [RCV000079242] Chr19:41414041 [GRCh38]
Chr19:41919946 [GRCh37]
Chr19:19q13.2
benign
NM_000709.4(BCKDHA):c.452C>T (p.Thr151Met) single nucleotide variant Maple syrup urine disease [RCV000295914]|Maple syrup urine disease type 1A [RCV001273305]|not specified [RCV000079243] Chr19:41414125 [GRCh38]
Chr19:41920030 [GRCh37]
Chr19:19q13.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_000709.4(BCKDHA):c.484+5G>A single nucleotide variant Maple syrup urine disease [RCV000315833]|Maple syrup urine disease type 1A [RCV001275912]|not provided [RCV000514452]|not specified [RCV000079244] Chr19:41414162 [GRCh38]
Chr19:41920067 [GRCh37]
Chr19:19q13.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000709.4(BCKDHA):c.485-28G>A single nucleotide variant not provided [RCV000079245] Chr19:41419107 [GRCh38]
Chr19:41925012 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_000709.4(BCKDHA):c.499C>T (p.Arg167Trp) single nucleotide variant not provided [RCV000079246] Chr19:41419149 [GRCh38]
Chr19:41925054 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_000709.4(BCKDHA):c.632C>T (p.Thr211Met) single nucleotide variant Maple syrup urine disease [RCV000178794]|not provided [RCV000790699] Chr19:41419282 [GRCh38]
Chr19:41925187 [GRCh37]
Chr19:19q13.2
pathogenic|likely pathogenic
NM_000709.4(BCKDHA):c.639C>T (p.Ile213=) single nucleotide variant Maple syrup urine disease [RCV000372754]|Maple syrup urine disease type 1A [RCV001275913]|not provided [RCV000755844]|not specified [RCV000079248] Chr19:41419289 [GRCh38]
Chr19:41925194 [GRCh37]
Chr19:19q13.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_000709.4(BCKDHA):c.659C>T (p.Ala220Val) single nucleotide variant Maple syrup urine disease [RCV000179335]|not provided [RCV000790736] Chr19:41422176 [GRCh38]
Chr19:41928081 [GRCh37]
Chr19:19q13.2
pathogenic|likely pathogenic
NM_000709.4(BCKDHA):c.663C>T (p.Tyr221=) single nucleotide variant Maple syrup urine disease [RCV001089235]|not provided [RCV000079250] Chr19:41422180 [GRCh38]
Chr19:41928085 [GRCh37]
Chr19:19q13.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000709.4(BCKDHA):c.708C>T (p.Phe236=) single nucleotide variant Maple syrup urine disease [RCV000338131]|Maple syrup urine disease type 1A [RCV001273306]|not provided [RCV000723409]|not specified [RCV000079251] Chr19:41422225 [GRCh38]
Chr19:41928130 [GRCh37]
Chr19:19q13.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000709.4(BCKDHA):c.761C>A (p.Ala254Asp) single nucleotide variant Maple syrup urine disease [RCV000819695]|not provided [RCV000179338] Chr19:41422278 [GRCh38]
Chr19:41928183 [GRCh37]
Chr19:19q13.2
pathogenic|likely pathogenic|uncertain significance
NM_000709.4(BCKDHA):c.782_784TCT[2] (p.Phe263del) microsatellite Maple syrup urine disease [RCV000692185]|Maple syrup urine disease type 1A [RCV001275915]|not provided [RCV000079254] Chr19:41422299..41422301 [GRCh38]
Chr19:41928204..41928206 [GRCh37]
Chr19:19q13.2
conflicting interpretations of pathogenicity|uncertain significance
NM_000709.4(BCKDHA):c.817A>G (p.Thr273Ala) single nucleotide variant not provided [RCV000079255] Chr19:41422334 [GRCh38]
Chr19:41928239 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_000709.4(BCKDHA):c.853+17C>A single nucleotide variant not provided [RCV000079256] Chr19:41422387 [GRCh38]
Chr19:41928292 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_000709.4(BCKDHA):c.853G>C (p.Ala285Pro) single nucleotide variant Maple syrup urine disease [RCV000179337]|Maple syrup urine disease type 1A [RCV001275916]|not provided [RCV000079257] Chr19:41422370 [GRCh38]
Chr19:41928275 [GRCh37]
Chr19:19q13.2
pathogenic|likely pathogenic
NM_000709.4(BCKDHA):c.890G>A (p.Arg297His) single nucleotide variant Maple syrup urine disease [RCV000664897]|not provided [RCV000079259] Chr19:41422665 [GRCh38]
Chr19:41928570 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_000709.4(BCKDHA):c.905A>C (p.Asp302Ala) single nucleotide variant Maple syrup urine disease [RCV001283857]|not provided [RCV000179780] Chr19:41422680 [GRCh38]
Chr19:41928585 [GRCh37]
Chr19:19q13.2
pathogenic
NM_000709.4(BCKDHA):c.907_908GT[1] (p.Phe304fs) microsatellite not provided [RCV000179781] Chr19:41422681..41422682 [GRCh38]
Chr19:41928586..41928587 [GRCh37]
Chr19:19q13.2
pathogenic
NM_000709.4(BCKDHA):c.910T>C (p.Phe304Leu) single nucleotide variant not provided [RCV000723471]|not specified [RCV000239015] Chr19:41422685 [GRCh38]
Chr19:41928590 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_000709.4(BCKDHA):c.917del (p.Val306fs) deletion not provided [RCV000179778] Chr19:41422692 [GRCh38]
Chr19:41928597 [GRCh37]
Chr19:19q13.2
pathogenic
NM_000709.4(BCKDHA):c.964C>T (p.Gln322Ter) single nucleotide variant not provided [RCV000179777] Chr19:41422739 [GRCh38]
Chr19:41928644 [GRCh37]
Chr19:19q13.2
pathogenic
NM_000709.4(BCKDHA):c.972C>T (p.Phe324=) single nucleotide variant Maple syrup urine disease [RCV000284317]|not specified [RCV000079266] Chr19:41422747 [GRCh38]
Chr19:41928652 [GRCh37]
Chr19:19q13.2
benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_000709.4(BCKDHA):c.975C>T (p.Leu325=) single nucleotide variant Maple syrup urine disease [RCV000871748]|not specified [RCV000079267] Chr19:41422750 [GRCh38]
Chr19:41928655 [GRCh37]
Chr19:19q13.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000709.4(BCKDHA):c.978C>T (p.Ile326=) single nucleotide variant Maple syrup urine disease [RCV001079760]|not provided [RCV000723468]|not specified [RCV000079268] Chr19:41422753 [GRCh38]
Chr19:41928658 [GRCh37]
Chr19:19q13.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000709.4(BCKDHA):c.979G>A (p.Glu327Lys) single nucleotide variant Maple syrup urine disease [RCV000179779]|Maple syrup urine disease type 1A [RCV001275918]|not provided [RCV000790719] Chr19:41422754 [GRCh38]
Chr19:41928659 [GRCh37]
Chr19:19q13.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000709.4(BCKDHA):c.995+26C>T single nucleotide variant not provided [RCV000833352]|not specified [RCV000079270] Chr19:41422796 [GRCh38]
Chr19:41928701 [GRCh37]
Chr19:19q13.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_000709.4(BCKDHA):c.995+49G>A single nucleotide variant not specified [RCV000079271] Chr19:41422819 [GRCh38]
Chr19:41928724 [GRCh37]
Chr19:19q13.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_000709.4(BCKDHA):c.995+9C>T single nucleotide variant Maple syrup urine disease [RCV000872514]|Maple syrup urine disease type 1A [RCV001275919]|not specified [RCV000079272] Chr19:41422779 [GRCh38]
Chr19:41928684 [GRCh37]
Chr19:19q13.2
benign
NM_000709.4(BCKDHA):c.996-33dup duplication not specified [RCV000079273] Chr19:41422962..41422963 [GRCh38]
Chr19:41928867..41928868 [GRCh37]
Chr19:19q13.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_000709.4(BCKDHA):c.996-6G>A single nucleotide variant Maple syrup urine disease [RCV000394948]|Maple syrup urine disease type 1A [RCV001275920]|not specified [RCV000079274] Chr19:41422992 [GRCh38]
Chr19:41928897 [GRCh37]
Chr19:19q13.2
benign|likely benign|conflicting interpretations of pathogenicity
Single allele insertion Maple syrup urine disease [RCV000179336] Chr19:41928162..41928163 [GRCh37] pathogenic
NM_000709.4(BCKDHA):c.861_868del (p.Gly288fs) deletion Maple syrup urine disease [RCV000179782]|Maple syrup urine disease type 1A [RCV000002474]|not provided [RCV000724580] Chr19:41422634..41422641 [GRCh38]
Chr19:41928539..41928546 [GRCh37]
Chr19:19q13.2
pathogenic|likely pathogenic
GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3 copy number gain See cases [RCV000133888] Chr19:11227942..44626354 [GRCh38]
Chr19:11338618..45129651 [GRCh37]
Chr19:11199618..49821491 [NCBI36]
Chr19:19p13.2-q13.31
pathogenic
NM_000709.4(BCKDHA):c.1198A>T (p.Lys400Ter) single nucleotide variant Maple syrup urine disease [RCV000202366] Chr19:41424468 [GRCh38]
Chr19:41930373 [GRCh37]
Chr19:19q13.2
pathogenic|likely pathogenic
NM_000709.4(BCKDHA):c.117dup (p.Arg40fs) duplication Maple syrup urine disease [RCV000984155]|not provided [RCV000152848] Chr19:41410638..41410639 [GRCh38]
Chr19:41916543..41916544 [GRCh37]
Chr19:19q13.2
pathogenic
NM_000709.4(BCKDHA):c.1251C>T (p.Pro417=) single nucleotide variant Maple syrup urine disease [RCV001084720]|not provided [RCV000723905]|not specified [RCV000152849] Chr19:41424521 [GRCh38]
Chr19:41930426 [GRCh37]
Chr19:19q13.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000709.4(BCKDHA):c.1080C>T (p.Pro360=) single nucleotide variant Maple syrup urine disease [RCV001078509]|not provided [RCV000724666]|not specified [RCV000180183] Chr19:41423082 [GRCh38]
Chr19:41928987 [GRCh37]
Chr19:19q13.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000709.4(BCKDHA):c.1277C>T (p.Ser426Phe) single nucleotide variant not provided [RCV000180525] Chr19:41424547 [GRCh38]
Chr19:41930452 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_000709.3(BCKDHA):c.746G>C (p.Gly249Ala) single nucleotide variant not specified [RCV000185795] Chr19:41422263 [GRCh38]
Chr19:41928168 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_000709.4(BCKDHA):c.661_664del (p.Tyr221fs) deletion Maple syrup urine disease [RCV000408793]|not provided [RCV000185796] Chr19:41422176..41422179 [GRCh38]
Chr19:41928081..41928084 [GRCh37]
Chr19:19q13.2
pathogenic|likely pathogenic
NM_000709.4(BCKDHA):c.1081A>G (p.Ile361Val) single nucleotide variant Maple syrup urine disease [RCV000549241] Chr19:41423083 [GRCh38]
Chr19:41928988 [GRCh37]
Chr19:19q13.2
likely benign|conflicting interpretations of pathogenicity
NM_000709.4(BCKDHA):c.476G>A (p.Arg159Gln) single nucleotide variant Maple syrup urine disease [RCV000209016] Chr19:41414149 [GRCh38]
Chr19:41920054 [GRCh37]
Chr19:19q13.2
pathogenic
NM_000709.4(BCKDHA):c.940C>T (p.Arg314Ter) single nucleotide variant Maple syrup urine disease [RCV000209887]|Maple syrup urine disease type 1A [RCV001194035] Chr19:41422715 [GRCh38]
Chr19:41928620 [GRCh37]
Chr19:19q13.2
pathogenic
NM_000709.4(BCKDHA):c.844G>C (p.Asp282His) single nucleotide variant Maple syrup urine disease [RCV000209700] Chr19:41422361 [GRCh38]
Chr19:41928266 [GRCh37]
Chr19:19q13.2
pathogenic
NM_000709.4(BCKDHA):c.470A>C (p.Gln157Pro) single nucleotide variant Maple syrup urine disease [RCV000209796] Chr19:41414143 [GRCh38]
Chr19:41920048 [GRCh37]
Chr19:19q13.2
pathogenic
NM_000709.4(BCKDHA):c.836A>G (p.Tyr279Cys) single nucleotide variant Maple syrup urine disease [RCV001331359]|not provided [RCV000224751] Chr19:41422353 [GRCh38]
Chr19:41928258 [GRCh37]
Chr19:19q13.2
likely pathogenic|uncertain significance
NM_000709.4(BCKDHA):c.892G>A (p.Val298Met) single nucleotide variant Maple syrup urine disease [RCV000669867] Chr19:41422667 [GRCh38]
Chr19:41928572 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_000709.4(BCKDHA):c.475C>T (p.Arg159Trp) single nucleotide variant Maple syrup urine disease [RCV000669276] Chr19:41414148 [GRCh38]
Chr19:41920053 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_000709.4(BCKDHA):c.853+1G>T single nucleotide variant Maple syrup urine disease [RCV000669354] Chr19:41422371 [GRCh38]
Chr19:41928276 [GRCh37]
Chr19:19q13.2
likely pathogenic
NM_000709.4(BCKDHA):c.859C>T (p.Arg287Ter) single nucleotide variant Maple syrup urine disease [RCV000669536] Chr19:41422634 [GRCh38]
Chr19:41928539 [GRCh37]
Chr19:19q13.2
pathogenic
NM_000709.4(BCKDHA):c.63C>T (p.Ala21=) single nucleotide variant Maple syrup urine disease [RCV000302671]|Maple syrup urine disease type 1A [RCV001275905] Chr19:41397890 [GRCh38]
Chr19:41903795 [GRCh37]
Chr19:19q13.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000709.4(BCKDHA):c.*213G>A single nucleotide variant Maple syrup urine disease [RCV000260668] Chr19:41424821 [GRCh38]
Chr19:41930726 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_000709.4(BCKDHA):c.1191C>T (p.Ala397=) single nucleotide variant Maple syrup urine disease [RCV000306729]|not specified [RCV000423670] Chr19:41424461 [GRCh38]
Chr19:41930366 [GRCh37]
Chr19:19q13.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000709.4(BCKDHA):c.1211A>G (p.Asn404Ser) single nucleotide variant Maple syrup urine disease [RCV000908225]|not specified [RCV000373880] Chr19:41424481 [GRCh38]
Chr19:41930386 [GRCh37]
Chr19:19q13.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_000709.4(BCKDHA):c.435C>T (p.Ala145=) single nucleotide variant Maple syrup urine disease [RCV000273550] Chr19:41414108 [GRCh38]
Chr19:41920013 [GRCh37]
Chr19:19q13.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000709.4(BCKDHA):c.1192G>A (p.Glu398Lys) single nucleotide variant Maple syrup urine disease [RCV000363793] Chr19:41424462 [GRCh38]
Chr19:41930367 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_000709.4(BCKDHA):c.*20C>A single nucleotide variant Maple syrup urine disease [RCV000276140] Chr19:41424628 [GRCh38]
Chr19:41930533 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_000709.4(BCKDHA):c.*17C>T single nucleotide variant Maple syrup urine disease [RCV000368467]|not specified [RCV000436911] Chr19:41424625 [GRCh38]
Chr19:41930530 [GRCh37]
Chr19:19q13.2
benign|likely benign|uncertain significance
NM_000709.4(BCKDHA):c.648G>T (p.Ala216=) single nucleotide variant Maple syrup urine disease [RCV000280567]|not provided [RCV000755845]|not specified [RCV000439527] Chr19:41422165 [GRCh38]
Chr19:41928070 [GRCh37]
Chr19:19q13.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000709.4(BCKDHA):c.143T>C (p.Leu48Pro) single nucleotide variant Maple syrup urine disease [RCV000306026] Chr19:41410671 [GRCh38]
Chr19:41916576 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_000709.4(BCKDHA):c.*324G>A single nucleotide variant Maple syrup urine disease [RCV000375241] Chr19:41424932 [GRCh38]
Chr19:41930837 [GRCh37]
Chr19:19q13.2
likely benign|uncertain significance
NM_000709.4(BCKDHA):c.*334C>T single nucleotide variant Maple syrup urine disease [RCV000282867] Chr19:41424942 [GRCh38]
Chr19:41930847 [GRCh37]
Chr19:19q13.2
likely benign|uncertain significance
NM_000709.4(BCKDHA):c.*125C>T single nucleotide variant Maple syrup urine disease [RCV000353256] Chr19:41424733 [GRCh38]
Chr19:41930638 [GRCh37]
Chr19:19q13.2
benign|likely benign
NM_000709.4(BCKDHA):c.288+10G>A single nucleotide variant Maple syrup urine disease [RCV000328198]|Maple syrup urine disease type 1A [RCV001273302]|not specified [RCV000602161] Chr19:41410826 [GRCh38]
Chr19:41916731 [GRCh37]
Chr19:19q13.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000709.4(BCKDHA):c.565C>T (p.Arg189Cys) single nucleotide variant not provided [RCV000351654] Chr19:41419215 [GRCh38]
Chr19:41925120 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_000709.4(BCKDHA):c.436G>A (p.Ala146Thr) single nucleotide variant Maple syrup urine disease [RCV000331020] Chr19:41414109 [GRCh38]
Chr19:41920014 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_000709.4(BCKDHA):c.448A>G (p.Asn150Asp) single nucleotide variant Maple syrup urine disease [RCV000387881] Chr19:41414121 [GRCh38]
Chr19:41920026 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_000709.4(BCKDHA):c.*68G>A single nucleotide variant Maple syrup urine disease [RCV000333574] Chr19:41424676 [GRCh38]
Chr19:41930581 [GRCh37]
Chr19:19q13.2
benign|likely benign
NM_000709.3(BCKDHA):c.-25G>C single nucleotide variant Maple syrup urine disease [RCV000396708]|not specified [RCV000599925] Chr19:41397803 [GRCh38]
Chr19:41903708 [GRCh37]
Chr19:19q13.2
likely benign|uncertain significance
NM_000709.4(BCKDHA):c.159G>C (p.Gln53His) single nucleotide variant Maple syrup urine disease [RCV000363085] Chr19:41410687 [GRCh38]
Chr19:41916592 [GRCh37]
Chr19:19q13.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000709.4(BCKDHA):c.*309A>G single nucleotide variant Maple syrup urine disease [RCV000318312] Chr19:41424917 [GRCh38]
Chr19:41930822 [GRCh37]
Chr19:19q13.2
benign|likely benign
NM_000709.4(BCKDHA):c.842G>T (p.Gly281Val) single nucleotide variant Maple syrup urine disease [RCV000406165] Chr19:41422359 [GRCh38]
Chr19:41928264 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_000709.4(BCKDHA):c.*335G>A single nucleotide variant Maple syrup urine disease [RCV000321602] Chr19:41424943 [GRCh38]
Chr19:41930848 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_000709.4(BCKDHA):c.995+8C>T single nucleotide variant Maple syrup urine disease [RCV000341614] Chr19:41422778 [GRCh38]
Chr19:41928683 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_000709.4(BCKDHA):c.289-5C>T single nucleotide variant Maple syrup urine disease [RCV000876184]|not specified [RCV000600235] Chr19:41410918 [GRCh38]
Chr19:41916823 [GRCh37]
Chr19:19q13.2
likely benign|conflicting interpretations of pathogenicity
NM_000709.4(BCKDHA):c.*365A>G single nucleotide variant Maple syrup urine disease [RCV000378572] Chr19:41424973 [GRCh38]
Chr19:41930878 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_000709.4(BCKDHA):c.854-2A>G single nucleotide variant not provided [RCV000592741] Chr19:41422627 [GRCh38]
Chr19:41928532 [GRCh37]
Chr19:19q13.2
pathogenic
NM_000709.4(BCKDHA):c.399delinsAA (p.Asn134fs) indel Maple syrup urine disease [RCV000415547] Chr19:41414072 [GRCh38]
Chr19:41919977 [GRCh37]
Chr19:19q13.2
pathogenic
NM_000709.4(BCKDHA):c.137C>A (p.Ser46Ter) single nucleotide variant Maple syrup urine disease [RCV000409408] Chr19:41410665 [GRCh38]
Chr19:41916570 [GRCh37]
Chr19:19q13.2
likely pathogenic
NM_000709.4(BCKDHA):c.213C>T (p.Asn71=) single nucleotide variant Maple syrup urine disease [RCV000873487]|not specified [RCV000431021] Chr19:41410741 [GRCh38]
Chr19:41916646 [GRCh37]
Chr19:19q13.2
likely benign
NM_000709.4(BCKDHA):c.15C>T (p.Ile5=) single nucleotide variant Maple syrup urine disease [RCV000876474]|not specified [RCV000441307] Chr19:41397842 [GRCh38]
Chr19:41903747 [GRCh37]
Chr19:19q13.2
benign|likely benign
NM_000709.3(BCKDHA):c.-22C>A single nucleotide variant not specified [RCV000431316] Chr19:41397806 [GRCh38]
Chr19:41903711 [GRCh37]
Chr19:19q13.2
likely benign
NM_000709.3(BCKDHA):c.-28C>G single nucleotide variant not specified [RCV000438551] Chr19:41397800 [GRCh38]
Chr19:41903705 [GRCh37]
Chr19:19q13.2
benign
NM_000709.4(BCKDHA):c.807C>T (p.Tyr269=) single nucleotide variant Maple syrup urine disease [RCV000951728]|not specified [RCV000438669] Chr19:41422324 [GRCh38]
Chr19:41928229 [GRCh37]
Chr19:19q13.2
likely benign
NM_000709.4(BCKDHA):c.336T>G (p.Leu112=) single nucleotide variant Maple syrup urine disease [RCV000871423]|not specified [RCV000442403] Chr19:41410970 [GRCh38]
Chr19:41916875 [GRCh37]
Chr19:19q13.2
likely benign
NM_000709.4(BCKDHA):c.840C>T (p.Arg280=) single nucleotide variant Maple syrup urine disease [RCV000873186]|not specified [RCV000418860] Chr19:41422357 [GRCh38]
Chr19:41928262 [GRCh37]
Chr19:19q13.2
benign|likely benign
NM_000709.4(BCKDHA):c.117C>A (p.Pro39=) single nucleotide variant Maple syrup urine disease [RCV000898176]|not specified [RCV000421760] Chr19:41410645 [GRCh38]
Chr19:41916550 [GRCh37]
Chr19:19q13.2
likely benign
NM_000709.4(BCKDHA):c.1032G>A (p.Ala344=) single nucleotide variant not specified [RCV000443158] Chr19:41423034 [GRCh38]
Chr19:41928939 [GRCh37]
Chr19:19q13.2
likely benign
NM_000709.4(BCKDHA):c.63C>G (p.Ala21=) single nucleotide variant not provided [RCV000978737]|not specified [RCV000426117] Chr19:41397890 [GRCh38]
Chr19:41903795 [GRCh37]
Chr19:19q13.2
likely benign
NM_000709.4(BCKDHA):c.1055A>G (p.Asn352Ser) single nucleotide variant not provided [RCV000426545] Chr19:41423057 [GRCh38]
Chr19:41928962 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_000709.4(BCKDHA):c.996-18C>T single nucleotide variant not specified [RCV000426920] Chr19:41422980 [GRCh38]
Chr19:41928885 [GRCh37]
Chr19:19q13.2
likely benign
GRCh37/hg19 19q13.2(chr19:41882243-41928551)x1 copy number loss See cases [RCV000447907] Chr19:41882243..41928551 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_000709.4(BCKDHA):c.647-1G>C single nucleotide variant Maple syrup urine disease [RCV000670031]|not provided [RCV000498679] Chr19:41422163 [GRCh38]
Chr19:41928068 [GRCh37]
Chr19:19q13.2
pathogenic|likely pathogenic
NM_000709.4(BCKDHA):c.1168-2A>G single nucleotide variant Maple syrup urine disease [RCV000668125]|Maple syrup urine disease type 1A [RCV000587694]|not provided [RCV000497494] Chr19:41424436 [GRCh38]
Chr19:41930341 [GRCh37]
Chr19:19q13.2
likely pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) copy number gain See cases [RCV000512296] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 copy number gain See cases [RCV000511289] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic|uncertain significance
NM_000709.4(BCKDHA):c.943C>T (p.Arg315Trp) single nucleotide variant Maple syrup urine disease [RCV000625823] Chr19:41422718 [GRCh38]
Chr19:41928623 [GRCh37]
Chr19:19q13.2
likely pathogenic
NM_000709.4(BCKDHA):c.511del (p.Leu171fs) deletion Maple syrup urine disease [RCV000601066] Chr19:41419157 [GRCh38]
Chr19:41925062 [GRCh37]
Chr19:19q13.2
pathogenic|likely pathogenic
NM_000709.4(BCKDHA):c.1167+17C>G single nucleotide variant not specified [RCV000612343] Chr19:41423186 [GRCh38]
Chr19:41929091 [GRCh37]
Chr19:19q13.2
likely benign
NM_000709.4(BCKDHA):c.1233C>T (p.Asp411=) single nucleotide variant Maple syrup urine disease [RCV000864288]|not specified [RCV000612415] Chr19:41424503 [GRCh38]
Chr19:41930408 [GRCh37]
Chr19:19q13.2
likely benign
NM_000709.4(BCKDHA):c.420G>A (p.Thr140=) single nucleotide variant Maple syrup urine disease [RCV000948473]|not specified [RCV000615226] Chr19:41414093 [GRCh38]
Chr19:41919998 [GRCh37]
Chr19:19q13.2
likely benign|conflicting interpretations of pathogenicity
NM_000709.4(BCKDHA):c.375+4C>T single nucleotide variant not specified [RCV000606989] Chr19:41411013 [GRCh38]
Chr19:41916918 [GRCh37]
Chr19:19q13.2
likely benign
NM_000709.4(BCKDHA):c.853+11T>C single nucleotide variant not specified [RCV000602344] Chr19:41422381 [GRCh38]
Chr19:41928286 [GRCh37]
Chr19:19q13.2
likely benign
NM_000709.4(BCKDHA):c.349C>T (p.Arg117Cys) single nucleotide variant Maple syrup urine disease [RCV000526694] Chr19:41410983 [GRCh38]
Chr19:41916888 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_000709.4(BCKDHA):c.646+13G>A single nucleotide variant not specified [RCV000614022] Chr19:41419309 [GRCh38]
Chr19:41925214 [GRCh37]
Chr19:19q13.2
likely benign
NM_000709.4(BCKDHA):c.995+19G>A single nucleotide variant not specified [RCV000611309] Chr19:41422789 [GRCh38]
Chr19:41928694 [GRCh37]
Chr19:19q13.2
likely benign
NM_000709.4(BCKDHA):c.825C>T (p.Thr275=) single nucleotide variant Maple syrup urine disease [RCV000631897] Chr19:41422342 [GRCh38]
Chr19:41928247 [GRCh37]
Chr19:19q13.2
likely benign
NM_000709.4(BCKDHA):c.143del (p.Leu48fs) deletion Maple syrup urine disease [RCV000625789] Chr19:41410671 [GRCh38]
Chr19:41916576 [GRCh37]
Chr19:19q13.2
pathogenic
NM_000709.4(BCKDHA):c.467G>A (p.Gly156Asp) single nucleotide variant not provided [RCV000585279] Chr19:41414140 [GRCh38]
Chr19:41920045 [GRCh37]
Chr19:19q13.2
likely pathogenic
NM_000709.4(BCKDHA):c.3G>A (p.Met1Ile) single nucleotide variant Maple syrup urine disease [RCV000672105] Chr19:41397830 [GRCh38]
Chr19:41903735 [GRCh37]
Chr19:19q13.2
likely pathogenic
NM_000709.4(BCKDHA):c.794G>C (p.Arg265Pro) single nucleotide variant Maple syrup urine disease [RCV000672950] Chr19:41422311 [GRCh38]
Chr19:41928216 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_000709.4(BCKDHA):c.992dup (p.Tyr331Ter) duplication Maple syrup urine disease [RCV000671995] Chr19:41422766..41422767 [GRCh38]
Chr19:41928671..41928672 [GRCh37]
Chr19:19q13.2
likely pathogenic
NM_000709.4(BCKDHA):c.1167+1del deletion Maple syrup urine disease [RCV000672530] Chr19:41423169 [GRCh38]
Chr19:41929074 [GRCh37]
Chr19:19q13.2
likely pathogenic
NM_000709.4(BCKDHA):c.889C>T (p.Arg297Cys) single nucleotide variant Maple syrup urine disease [RCV000671303] Chr19:41422664 [GRCh38]
Chr19:41928569 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_000709.4(BCKDHA):c.1192G>T (p.Glu398Ter) single nucleotide variant Maple syrup urine disease [RCV000669226] Chr19:41424462 [GRCh38]
Chr19:41930367 [GRCh37]
Chr19:19q13.2
likely pathogenic
NM_000709.4(BCKDHA):c.121_123CAG[5] (p.Gln44dup) microsatellite Maple syrup urine disease [RCV000671767] Chr19:41410647..41410648 [GRCh38]
Chr19:41916552..41916553 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_000709.4(BCKDHA):c.1267_1269CAG[1] (p.Gln424del) microsatellite Maple syrup urine disease [RCV000668918] Chr19:41424535..41424537 [GRCh38]
Chr19:41930440..41930442 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_000709.4(BCKDHA):c.1008_1015del (p.His336fs) deletion Maple syrup urine disease [RCV000673876] Chr19:41423004..41423011 [GRCh38]
Chr19:41928909..41928916 [GRCh37]
Chr19:19q13.2
likely pathogenic
NM_000709.4(BCKDHA):c.127C>T (p.Gln43Ter) single nucleotide variant Maple syrup urine disease [RCV000665755] Chr19:41410655 [GRCh38]
Chr19:41916560 [GRCh37]
Chr19:19q13.2
likely pathogenic
NM_000709.4(BCKDHA):c.757G>A (p.Ala253Thr) single nucleotide variant Maple syrup urine disease [RCV000674422] Chr19:41422274 [GRCh38]
Chr19:41928179 [GRCh37]
Chr19:19q13.2
likely pathogenic
NM_000709.4(BCKDHA):c.562G>T (p.Gly188Trp) single nucleotide variant Maple syrup urine disease [RCV000666036] Chr19:41419212 [GRCh38]
Chr19:41925117 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_000709.4(BCKDHA):c.1119G>A (p.Trp373Ter) single nucleotide variant Maple syrup urine disease [RCV000673741] Chr19:41423121 [GRCh38]
Chr19:41929026 [GRCh37]
Chr19:19q13.2
likely pathogenic
NM_000709.4(BCKDHA):c.1280_1282del (p.Leu427_Ala428delinsPro) deletion Maple syrup urine disease [RCV000673920] Chr19:41424550..41424552 [GRCh38]
Chr19:41930455..41930457 [GRCh37]
Chr19:19q13.2
conflicting interpretations of pathogenicity|uncertain significance
NM_000709.3(BCKDHA):c.111_122del12 (p.His37_Arg40del) deletion Maple syrup urine disease [RCV000665748] Chr19:41410636..41410647 [GRCh38]
Chr19:41916541..41916552 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_000709.4(BCKDHA):c.718del (p.Ala240fs) deletion Maple syrup urine disease [RCV000674650] Chr19:41422231 [GRCh38]
Chr19:41928136 [GRCh37]
Chr19:19q13.2
pathogenic
NM_000709.4(BCKDHA):c.500G>A (p.Arg167Gln) single nucleotide variant Maple syrup urine disease [RCV000668343] Chr19:41419150 [GRCh38]
Chr19:41925055 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_000709.4(BCKDHA):c.1087C>T (p.Arg363Trp) single nucleotide variant Maple syrup urine disease [RCV000674875] Chr19:41423089 [GRCh38]
Chr19:41928994 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_000709.4(BCKDHA):c.*223T>A single nucleotide variant Maple syrup urine disease [RCV000665623] Chr19:41424831 [GRCh38]
Chr19:41930736 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_000709.4(BCKDHA):c.656C>T (p.Ala219Val) single nucleotide variant Maple syrup urine disease [RCV000701912] Chr19:41422173 [GRCh38]
Chr19:41928078 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_000709.4(BCKDHA):c.108+5G>C single nucleotide variant Maple syrup urine disease [RCV000694889] Chr19:41397940 [GRCh38]
Chr19:41903845 [GRCh37]
Chr19:19q13.2
likely pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 copy number gain not provided [RCV000752439] Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 copy number gain not provided [RCV000752444] Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
NM_000709.4(BCKDHA):c.744C>T (p.Ala248=) single nucleotide variant Maple syrup urine disease [RCV000872380]|Maple syrup urine disease type 1A [RCV001273308] Chr19:41422261 [GRCh38]
Chr19:41928166 [GRCh37]
Chr19:19q13.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000709.4(BCKDHA):c.554del (p.Leu185fs) deletion Maple syrup urine disease [RCV000761473] Chr19:41419203 [GRCh38]
Chr19:41925108 [GRCh37]
Chr19:19q13.2
pathogenic
NM_000709.4(BCKDHA):c.332T>C (p.Leu111Pro) single nucleotide variant Maple syrup urine disease [RCV000761534] Chr19:41410966 [GRCh38]
Chr19:41916871 [GRCh37]
Chr19:19q13.2
pathogenic
NC_000019.10:g.(?_41397818)_(41414167_?)del deletion Maple syrup urine disease [RCV001032658] Chr19:41903723..41920072 [GRCh37]
Chr19:19q13.2
pathogenic
NM_000709.4(BCKDHA):c.441C>G (p.Ala147=) single nucleotide variant Maple syrup urine disease [RCV001134883] Chr19:41414114 [GRCh38]
Chr19:41920019 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_000709.4(BCKDHA):c.664G>A (p.Ala222Thr) single nucleotide variant Maple syrup urine disease [RCV001134884] Chr19:41422181 [GRCh38]
Chr19:41928086 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_000709.4(BCKDHA):c.*301G>A single nucleotide variant Maple syrup urine disease [RCV001135021] Chr19:41424909 [GRCh38]
Chr19:41930814 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_000709.4(BCKDHA):c.647-6C>T single nucleotide variant not provided [RCV000982836] Chr19:41422158 [GRCh38]
Chr19:41928063 [GRCh37]
Chr19:19q13.2
likely benign
NM_000709.4(BCKDHA):c.732G>A (p.Gly244=) single nucleotide variant not provided [RCV000943829] Chr19:41422249 [GRCh38]
Chr19:41928154 [GRCh37]
Chr19:19q13.2
likely benign
NM_000709.4(BCKDHA):c.819G>T (p.Thr273=) single nucleotide variant Maple syrup urine disease [RCV000903880]|Maple syrup urine disease type 1A [RCV001273310] Chr19:41422336 [GRCh38]
Chr19:41928241 [GRCh37]
Chr19:19q13.2
likely benign|uncertain significance
NM_000709.4(BCKDHA):c.1329C>T (p.Phe443=) single nucleotide variant Maple syrup urine disease [RCV000892633] Chr19:41424599 [GRCh38]
Chr19:41930504 [GRCh37]
Chr19:19q13.2
likely benign
NM_000709.4(BCKDHA):c.402C>T (p.Asn134=) single nucleotide variant Maple syrup urine disease [RCV000941861] Chr19:41414075 [GRCh38]
Chr19:41919980 [GRCh37]
Chr19:19q13.2
likely benign
NM_000709.4(BCKDHA):c.1020C>T (p.Asp340=) single nucleotide variant Maple syrup urine disease [RCV000904691] Chr19:41423022 [GRCh38]
Chr19:41928927 [GRCh37]
Chr19:19q13.2
likely benign
NM_000709.4(BCKDHA):c.375+10G>A single nucleotide variant Maple syrup urine disease [RCV000877137] Chr19:41411019 [GRCh38]
Chr19:41916924 [GRCh37]
Chr19:19q13.2
likely benign
NM_000709.4(BCKDHA):c.1110_1119del (p.Gln371fs) deletion Maple syrup urine disease [RCV000792298] Chr19:41423111..41423120 [GRCh38]
Chr19:41929016..41929025 [GRCh37]
Chr19:19q13.2
likely pathogenic
NM_000709.4(BCKDHA):c.294G>A (p.Pro98=) single nucleotide variant Maple syrup urine disease [RCV000880930]|Maple syrup urine disease type 1A [RCV001273303] Chr19:41410928 [GRCh38]
Chr19:41916833 [GRCh37]
Chr19:19q13.2
likely benign|conflicting interpretations of pathogenicity
NM_000709.4(BCKDHA):c.1041G>A (p.Ser347=) single nucleotide variant Maple syrup urine disease [RCV000942476] Chr19:41423043 [GRCh38]
Chr19:41928948 [GRCh37]
Chr19:19q13.2
likely benign
NM_000709.4(BCKDHA):c.528C>A (p.Ala176=) single nucleotide variant Maple syrup urine disease [RCV000908280] Chr19:41419178 [GRCh38]
Chr19:41925083 [GRCh37]
Chr19:19q13.2
likely benign
NM_000709.4(BCKDHA):c.174G>A (p.Ser58=) single nucleotide variant Maple syrup urine disease [RCV000895677]|Maple syrup urine disease type 1A [RCV001273300] Chr19:41410702 [GRCh38]
Chr19:41916607 [GRCh37]
Chr19:19q13.2
likely benign|uncertain significance
NM_000709.4(BCKDHA):c.819G>C (p.Thr273=) single nucleotide variant not provided [RCV000917164] Chr19:41422336 [GRCh38]
Chr19:41928241 [GRCh37]
Chr19:19q13.2
likely benign
NM_000709.4(BCKDHA):c.633G>A (p.Thr211=) single nucleotide variant Maple syrup urine disease type 1A [RCV001278571]|not provided [RCV000975674] Chr19:41419283 [GRCh38]
Chr19:41925188 [GRCh37]
Chr19:19q13.2
likely benign|uncertain significance
NM_000709.4(BCKDHA):c.1302C>T (p.Tyr434=) single nucleotide variant Maple syrup urine disease type 1A [RCV001273313]|not provided [RCV000977487] Chr19:41424572 [GRCh38]
Chr19:41930477 [GRCh37]
Chr19:19q13.2
likely benign|uncertain significance
NM_000709.4(BCKDHA):c.87G>A (p.Gly29=) single nucleotide variant not provided [RCV000981083] Chr19:41397914 [GRCh38]
Chr19:41903819 [GRCh37]
Chr19:19q13.2
likely benign
NM_000709.4(BCKDHA):c.1149G>A (p.Arg383=) single nucleotide variant not provided [RCV000980142] Chr19:41423151 [GRCh38]
Chr19:41929056 [GRCh37]
Chr19:19q13.2
likely benign
NM_000709.4(BCKDHA):c.615C>T (p.Ile205=) single nucleotide variant not provided [RCV000930270] Chr19:41419265 [GRCh38]
Chr19:41925170 [GRCh37]
Chr19:19q13.2
likely benign
NM_000709.4(BCKDHA):c.927C>T (p.Ala309=) single nucleotide variant Maple syrup urine disease [RCV000977677] Chr19:41422702 [GRCh38]
Chr19:41928607 [GRCh37]
Chr19:19q13.2
likely benign
NC_000019.10:g.41422796C>T single nucleotide variant not provided [RCV000833352] Chr19:41928701 [GRCh37]
Chr19:19q13.2
benign
NC_000019.10:g.41397516A>T single nucleotide variant not provided [RCV000840286] Chr19:41397516 [GRCh38]
Chr19:41903421 [GRCh37]
Chr19:19q13.2
benign
NM_000709.4(BCKDHA):c.1317A>G (p.Pro439=) single nucleotide variant not provided [RCV000841363] Chr19:41424587 [GRCh38]
Chr19:41930492 [GRCh37]
Chr19:19q13.2
likely benign
NM_000709.4(BCKDHA):c.484+149T>C single nucleotide variant not provided [RCV000835506] Chr19:41414306 [GRCh38]
Chr19:41920211 [GRCh37]
Chr19:19q13.2
benign
GRCh37/hg19 19q13.2(chr19:41304025-41928997)x3 copy number gain not provided [RCV001007048] Chr19:41304025..41928997 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_000709.4(BCKDHA):c.653G>C (p.Gly218Ala) single nucleotide variant Maple syrup urine disease [RCV001035319] Chr19:41422170 [GRCh38]
Chr19:41928075 [GRCh37]
Chr19:19q13.2
likely pathogenic
NM_000709.4(BCKDHA):c.1252G>A (p.Ala418Thr) single nucleotide variant Maple syrup urine disease [RCV000806773] Chr19:41424522 [GRCh38]
Chr19:41930427 [GRCh37]
Chr19:19q13.2
likely benign|uncertain significance
NM_000709.4(BCKDHA):c.*134C>T single nucleotide variant Maple syrup urine disease [RCV001135019] Chr19:41424742 [GRCh38]
Chr19:41930647 [GRCh37]
Chr19:19q13.2
likely benign
NM_000709.4(BCKDHA):c.*314A>G single nucleotide variant Maple syrup urine disease [RCV001135022] Chr19:41424922 [GRCh38]
Chr19:41930827 [GRCh37]
Chr19:19q13.2
uncertain significance
GRCh37/hg19 19q13.2(chr19:41907674-41923655)x1 copy number loss not provided [RCV000849752] Chr19:41907674..41923655 [GRCh37]
Chr19:19q13.2
pathogenic
NM_000709.4(BCKDHA):c.125A>G (p.Gln42Arg) single nucleotide variant Maple syrup urine disease [RCV001132487] Chr19:41410653 [GRCh38]
Chr19:41916558 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_000709.4(BCKDHA):c.*126G>A single nucleotide variant Maple syrup urine disease [RCV001135018] Chr19:41424734 [GRCh38]
Chr19:41930639 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_000709.4(BCKDHA):c.891C>T (p.Arg297=) single nucleotide variant Maple syrup urine disease [RCV000943028]|Maple syrup urine disease type 1A [RCV001273312] Chr19:41422666 [GRCh38]
Chr19:41928571 [GRCh37]
Chr19:19q13.2
likely benign|uncertain significance
NM_000709.4(BCKDHA):c.108+325C>T single nucleotide variant not provided [RCV000840287] Chr19:41398260 [GRCh38]
Chr19:41904165 [GRCh37]
Chr19:19q13.2
benign
NM_000709.4(BCKDHA):c.1167+177T>C single nucleotide variant not provided [RCV000840288] Chr19:41423346 [GRCh38]
Chr19:41929251 [GRCh37]
Chr19:19q13.2
benign
NM_000709.4(BCKDHA):c.787T>C (p.Phe263Leu) single nucleotide variant Maple syrup urine disease [RCV000808262]|Maple syrup urine disease type 1A [RCV001273309] Chr19:41422304 [GRCh38]
Chr19:41928209 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_000709.4(BCKDHA):c.1069C>T (p.Gln357Ter) single nucleotide variant Maple syrup urine disease [RCV000785061] Chr19:41423071 [GRCh38]
Chr19:41928976 [GRCh37]
Chr19:19q13.2
pathogenic
NM_000709.4(BCKDHA):c.330A>T (p.Thr110=) single nucleotide variant Maple syrup urine disease [RCV000898091]|Maple syrup urine disease type 1A [RCV001273304] Chr19:41410964 [GRCh38]
Chr19:41916869 [GRCh37]
Chr19:19q13.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000709.4(BCKDHA):c.*244C>T single nucleotide variant Maple syrup urine disease [RCV001135020] Chr19:41424852 [GRCh38]
Chr19:41930757 [GRCh37]
Chr19:19q13.2
uncertain significance
GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3 copy number gain not provided [RCV000845733] Chr19:28271106..49213832 [GRCh37]
Chr19:19q11-13.33
pathogenic
NM_000709.4(BCKDHA):c.293C>T (p.Pro98Leu) single nucleotide variant not provided [RCV000996931] Chr19:41410927 [GRCh38]
Chr19:41916832 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_000709.4(BCKDHA):c.882G>A (p.Met294Ile) single nucleotide variant Maple syrup urine disease [RCV001129864] Chr19:41422657 [GRCh38]
Chr19:41928562 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_000709.4(BCKDHA):c.925G>A (p.Ala309Thr) single nucleotide variant Maple syrup urine disease [RCV001129865] Chr19:41422700 [GRCh38]
Chr19:41928605 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_000709.4(BCKDHA):c.1093C>T (p.Arg365Trp) single nucleotide variant Maple syrup urine disease [RCV001246348] Chr19:41423095 [GRCh38]
Chr19:41929000 [GRCh37]
Chr19:19q13.2
uncertain significance
NC_000019.10:g.(?_41424428)_(41424831_?)del deletion Maple syrup urine disease [RCV001031304] Chr19:41930333..41930736 [GRCh37]
Chr19:19q13.2
likely pathogenic
NM_000709.4(BCKDHA):c.995+9C>G single nucleotide variant Maple syrup urine disease [RCV001130580] Chr19:41422779 [GRCh38]
Chr19:41928684 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_000709.4(BCKDHA):c.47G>A (p.Gly16Asp) single nucleotide variant Maple syrup urine disease [RCV001248683] Chr19:41397874 [GRCh38]
Chr19:41903779 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_000709.4(BCKDHA):c.484G>A (p.Gly162Ser) single nucleotide variant Maple syrup urine disease [RCV001209953] Chr19:41414157 [GRCh38]
Chr19:41920062 [GRCh37]
Chr19:19q13.2
likely pathogenic
NM_000709.4(BCKDHA):c.367C>T (p.Gln123Ter) single nucleotide variant Maple syrup urine disease [RCV001235560] Chr19:41411001 [GRCh38]
Chr19:41916906 [GRCh37]
Chr19:19q13.2
pathogenic
NM_000709.4(BCKDHA):c.135T>G (p.Phe45Leu) single nucleotide variant Maple syrup urine disease [RCV001221659] Chr19:41410663 [GRCh38]
Chr19:41916568 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_000709.4(BCKDHA):c.1313_1319del (p.Tyr438fs) deletion Maple syrup urine disease [RCV001216538] Chr19:41424579..41424585 [GRCh38]
Chr19:41930484..41930490 [GRCh37]
Chr19:19q13.2
likely pathogenic
NM_000709.4(BCKDHA):c.261G>T (p.Gln87His) single nucleotide variant Maple syrup urine disease [RCV001132488] Chr19:41410789 [GRCh38]
Chr19:41916694 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_000709.4(BCKDHA):c.1168-1G>A single nucleotide variant Maple syrup urine disease [RCV001197612] Chr19:41424437 [GRCh38]
Chr19:41930342 [GRCh37]
Chr19:19q13.2
likely pathogenic
NM_000709.4(BCKDHA):c.726T>C (p.Ser242=) single nucleotide variant Maple syrup urine disease [RCV000943606]|Maple syrup urine disease type 1A [RCV001273307] Chr19:41422243 [GRCh38]
Chr19:41928148 [GRCh37]
Chr19:19q13.2
likely benign|uncertain significance
NM_000709.4(BCKDHA):c.843C>T (p.Gly281=) single nucleotide variant Maple syrup urine disease [RCV000887176]|Maple syrup urine disease type 1A [RCV001273311] Chr19:41422360 [GRCh38]
Chr19:41928265 [GRCh37]
Chr19:19q13.2
likely benign|uncertain significance
NM_000709.4(BCKDHA):c.924C>T (p.Asn308=) single nucleotide variant Maple syrup urine disease [RCV000907225]|Maple syrup urine disease type 1A [RCV001275917] Chr19:41422699 [GRCh38]
Chr19:41928604 [GRCh37]
Chr19:19q13.2
likely benign
NM_000709.4(BCKDHA):c.75G>A (p.Leu25=) single nucleotide variant not provided [RCV000930372] Chr19:41397902 [GRCh38]
Chr19:41903807 [GRCh37]
Chr19:19q13.2
likely benign
NM_000709.4(BCKDHA):c.657G>A (p.Ala219=) single nucleotide variant Maple syrup urine disease [RCV000979727] Chr19:41422174 [GRCh38]
Chr19:41928079 [GRCh37]
Chr19:19q13.2
likely benign
NM_000709.4(BCKDHA):c.618C>T (p.Ser206=) single nucleotide variant not provided [RCV000930998] Chr19:41419268 [GRCh38]
Chr19:41925173 [GRCh37]
Chr19:19q13.2
likely benign
NM_000709.4(BCKDHA):c.693C>T (p.Val231=) single nucleotide variant Maple syrup urine disease [RCV000945212]|Maple syrup urine disease type 1A [RCV001275914] Chr19:41422210 [GRCh38]
Chr19:41928115 [GRCh37]
Chr19:19q13.2
likely benign
NM_000709.4(BCKDHA):c.919T>C (p.Tyr307His) single nucleotide variant Maple syrup urine disease [RCV001222506] Chr19:41422694 [GRCh38]
Chr19:41928599 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_000709.4(BCKDHA):c.449A>G (p.Asn150Ser) single nucleotide variant Maple syrup urine disease [RCV001242653] Chr19:41414122 [GRCh38]
Chr19:41920027 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_000709.4(BCKDHA):c.1167+1G>C single nucleotide variant Maple syrup urine disease [RCV001244572] Chr19:41423170 [GRCh38]
Chr19:41929075 [GRCh37]
Chr19:19q13.2
likely pathogenic
NM_000709.4(BCKDHA):c.607G>A (p.Val203Ile) single nucleotide variant Maple syrup urine disease [RCV001250046] Chr19:41419257 [GRCh38]
Chr19:41925162 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_000709.4(BCKDHA):c.359A>G (p.Tyr120Cys) single nucleotide variant Maple syrup urine disease [RCV001202668] Chr19:41410993 [GRCh38]
Chr19:41916898 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_000709.4(BCKDHA):c.1094G>A (p.Arg365Gln) single nucleotide variant Maple syrup urine disease [RCV001240489] Chr19:41423096 [GRCh38]
Chr19:41929001 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_000709.4(BCKDHA):c.606C>T (p.Phe202=) single nucleotide variant Maple syrup urine disease [RCV000912369] Chr19:41419256 [GRCh38]
Chr19:41925161 [GRCh37]
Chr19:19q13.2
likely benign
GRCh37/hg19 19q13.2(chr19:41889319-42338832)x3 copy number gain not provided [RCV001007049] Chr19:41889319..42338832 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_000709.4(BCKDHA):c.108+12G>A single nucleotide variant Maple syrup urine disease [RCV001129780] Chr19:41397947 [GRCh38]
Chr19:41903852 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_000709.4(BCKDHA):c.*384C>T single nucleotide variant Maple syrup urine disease [RCV001129988] Chr19:41424992 [GRCh38]
Chr19:41930897 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_000709.4(BCKDHA):c.797del (p.Asn266fs) deletion Maple syrup urine disease [RCV001218541] Chr19:41422313 [GRCh38]
Chr19:41928218 [GRCh37]
Chr19:19q13.2
pathogenic
NM_000709.4(BCKDHA):c.968C>G (p.Pro323Arg) single nucleotide variant Maple syrup urine disease [RCV001216140] Chr19:41422743 [GRCh38]
Chr19:41928648 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_000709.4(BCKDHA):c.774C>A (p.Cys258Ter) single nucleotide variant not provided [RCV001091179] Chr19:41422291 [GRCh38]
Chr19:41928196 [GRCh37]
Chr19:19q13.2
pathogenic
NM_000709.4(BCKDHA):c.978C>A (p.Ile326=) single nucleotide variant Maple syrup urine disease [RCV001230169] Chr19:41422753 [GRCh38]
Chr19:41928658 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_000709.4(BCKDHA):c.944G>A (p.Arg315Gln) single nucleotide variant Intellectual disability [RCV001249493] Chr19:41422719 [GRCh38]
Chr19:41928624 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_000709.4(BCKDHA):c.736G>A (p.Ala246Thr) single nucleotide variant Maple syrup urine disease [RCV001247715] Chr19:41422253 [GRCh38]
Chr19:41928158 [GRCh37]
Chr19:19q13.2
likely benign|uncertain significance
NM_000709.4(BCKDHA):c.497A>T (p.Tyr166Phe) single nucleotide variant Maple syrup urine disease [RCV001204587] Chr19:41419147 [GRCh38]
Chr19:41925052 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_000709.4(BCKDHA):c.976A>G (p.Ile326Val) single nucleotide variant Maple syrup urine disease [RCV001130579] Chr19:41422751 [GRCh38]
Chr19:41928656 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_000709.4(BCKDHA):c.43C>T (p.Arg15Cys) single nucleotide variant Maple syrup urine disease [RCV001246544] Chr19:41397870 [GRCh38]
Chr19:41903775 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_000709.4(BCKDHA):c.1061G>A (p.Trp354Ter) single nucleotide variant Maple syrup urine disease [RCV001204854] Chr19:41423063 [GRCh38]
Chr19:41928968 [GRCh37]
Chr19:19q13.2
pathogenic
NM_000709.4(BCKDHA):c.939C>T (p.Ala313=) single nucleotide variant Maple syrup urine disease type 1A [RCV001278573] Chr19:41422714 [GRCh38]
Chr19:41928619 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_000709.4(BCKDHA):c.196G>T (p.Glu66Ter) single nucleotide variant Maple syrup urine disease [RCV001264340] Chr19:41410724 [GRCh38]
Chr19:41916629 [GRCh37]
Chr19:19q13.2
likely pathogenic
NM_000709.4(BCKDHA):c.405T>A (p.Tyr135Ter) single nucleotide variant Maple syrup urine disease [RCV001264341] Chr19:41414078 [GRCh38]
Chr19:41919983 [GRCh37]
Chr19:19q13.2
likely pathogenic
NM_000709.4(BCKDHA):c.585C>A (p.Tyr195Ter) single nucleotide variant Maple syrup urine disease [RCV001263561] Chr19:41419235 [GRCh38]
Chr19:41925140 [GRCh37]
Chr19:19q13.2
likely pathogenic
NM_000709.4(BCKDHA):c.712G>T (p.Glu238Ter) single nucleotide variant Maple syrup urine disease [RCV001263562] Chr19:41422229 [GRCh38]
Chr19:41928134 [GRCh37]
Chr19:19q13.2
likely pathogenic
NM_000709.4(BCKDHA):c.931A>T (p.Lys311Ter) single nucleotide variant Maple syrup urine disease [RCV001263563] Chr19:41422706 [GRCh38]
Chr19:41928611 [GRCh37]
Chr19:19q13.2
likely pathogenic
NM_000709.4(BCKDHA):c.740A>G (p.His247Arg) single nucleotide variant Maple syrup urine disease [RCV001262490] Chr19:41422257 [GRCh38]
Chr19:41928162 [GRCh37]
Chr19:19q13.2
pathogenic
NM_000709.4(BCKDHA):c.1262G>A (p.Arg421His) single nucleotide variant Maple syrup urine disease [RCV001324822] Chr19:41424532 [GRCh38]
Chr19:41930437 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_000709.4(BCKDHA):c.995+1G>A single nucleotide variant Maple syrup urine disease [RCV001334560] Chr19:41422771 [GRCh38]
Chr19:41928676 [GRCh37]
Chr19:19q13.2
pathogenic
NM_000709.4(BCKDHA):c.947G>A (p.Arg316Gln) single nucleotide variant Maple syrup urine disease [RCV001337966] Chr19:41422722 [GRCh38]
Chr19:41928627 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_000709.4(BCKDHA):c.798C>T (p.Asn266=) single nucleotide variant Maple syrup urine disease type 1A [RCV001278572] Chr19:41422315 [GRCh38]
Chr19:41928220 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_000709.4(BCKDHA):c.1195C>T (p.Arg399Trp) single nucleotide variant Maple syrup urine disease [RCV001314404] Chr19:41424465 [GRCh38]
Chr19:41930370 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_000709.4(BCKDHA):c.996-9C>G single nucleotide variant Maple syrup urine disease [RCV001324769] Chr19:41422989 [GRCh38]
Chr19:41928894 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_000709.4(BCKDHA):c.428G>A (p.Gly143Glu) single nucleotide variant Maple syrup urine disease type 1A [RCV001278570] Chr19:41414101 [GRCh38]
Chr19:41920006 [GRCh37]
Chr19:19q13.2
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:986 AgrOrtholog
COSMIC BCKDHA COSMIC
Ensembl Genes ENSG00000248098 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000269980 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000416000 UniProtKB/Swiss-Prot
  ENSP00000440345 UniProtKB/TrEMBL
  ENSP00000445727 UniProtKB/TrEMBL
  ENSP00000445809 UniProtKB/TrEMBL
Ensembl Transcript ENST00000269980 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000457836 UniProtKB/Swiss-Prot
  ENST00000541315 UniProtKB/TrEMBL
  ENST00000542943 UniProtKB/TrEMBL
  ENST00000544905 UniProtKB/TrEMBL
GTEx ENSG00000248098 GTEx
HGNC ID HGNC:986 ENTREZGENE
Human Proteome Map BCKDHA Human Proteome Map
InterPro BCKDH_E1-a UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DH_E1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  THDP-binding UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:593 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 593 ENTREZGENE
OMIM 248600 OMIM
  608348 OMIM
PANTHER PTHR43380:SF1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam E1_dh UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA25297 PharmGKB
Superfamily-SCOP SSF52518 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024R0K3 ENTREZGENE, UniProtKB/TrEMBL
  A0A0M4C4P8_HUMAN UniProtKB/TrEMBL
  A0A0M5IJ90_HUMAN UniProtKB/TrEMBL
  F5GXU9_HUMAN UniProtKB/TrEMBL
  H0YH20_HUMAN UniProtKB/TrEMBL
  H0YH31_HUMAN UniProtKB/TrEMBL
  ODBA_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q59EI3 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary B4DP47 UniProtKB/Swiss-Prot
  E7EW46 UniProtKB/Swiss-Prot
  Q16034 UniProtKB/Swiss-Prot
  Q16472 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-04-30 BCKDHA  branched chain keto acid dehydrogenase E1 subunit alpha    branched chain keto acid dehydrogenase E1, alpha polypeptide  Symbol and/or name change 5135510 APPROVED
2016-04-05 BCKDHA  branched chain keto acid dehydrogenase E1, alpha polypeptide  OVD1A  2-oxoisovalerate dehydrogenase (lipoamide)  Data Merged 737654 PROVISIONAL