HMGCL (3-hydroxy-3-methylglutaryl-CoA lyase) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: HMGCL (3-hydroxy-3-methylglutaryl-CoA lyase) Homo sapiens
Analyze
Symbol: HMGCL
Name: 3-hydroxy-3-methylglutaryl-CoA lyase
RGD ID: 733716
HGNC Page HGNC
Description: Exhibits hydroxymethylglutaryl-CoA lyase activity; metal ion binding activity; and structural molecule activity. Involved in ketone body biosynthetic process and lipid metabolic process. Localizes to mitochondrion; peroxisome; and protein-containing complex. Implicated in amino acid metabolic disorder.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: 3-hydroxy-3-methylglutarate-CoA lyase; 3-hydroxy-3-methylglutaryl coa lyase; 3-hydroxymethyl-3-methylglutaryl-CoA lyase; 3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase; 3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase (hydroxymethylglutaricaciduria); HL; HMG-CoA lyase; hydroxymethylglutaricaciduria; hydroxymethylglutaryl-CoA lyase, mitochondrial; mitochondrial 3-hydroxy-3-methylglutaryl-CoA lyase
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 Ensembl123,801,885 - 23,838,620 (-)EnsemblGRCh38hg38GRCh38
GRCh38123,801,885 - 23,825,429 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37124,128,375 - 24,151,919 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36124,000,954 - 24,024,536 (-)NCBINCBI36hg18NCBI36
Build 34123,873,682 - 23,897,218NCBI
Celera122,457,935 - 22,481,518 (-)NCBI
Cytogenetic Map1p36.11NCBI
HuRef122,379,944 - 22,403,530 (-)NCBIHuRef
CHM1_1124,241,156 - 24,264,719 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
3-Methylglutaric aciduria  (IAGP)
Abnormal cerebral white matter morphology  (IAGP)
Acute pancreatitis  (IAGP)
Anemia  (IAGP)
Anorexia  (IAGP)
Apathy  (IAGP)
Apnea  (IAGP)
Ataxia  (IAGP)
Autosomal recessive inheritance  (IAGP)
Cardiac arrest  (IAGP)
Coma  (IAGP)
Death in childhood  (IAGP)
Decreased plasma carnitine  (IAGP)
Decreased prothrombin time  (IAGP)
Dehydration  (IAGP)
Diarrhea  (IAGP)
Dilated cardiomyopathy  (IAGP)
Dysarthria  (IAGP)
Edema  (IAGP)
EEG abnormality  (IAGP)
Elevated hepatic transaminase  (IAGP)
Encephalopathy  (IAGP)
Episodic vomiting  (IAGP)
Excessive daytime somnolence  (IAGP)
Fatigue  (IAGP)
Fever  (IAGP)
Global developmental delay  (IAGP)
Glutaric aciduria  (IAGP)
Hepatomegaly  (IAGP)
Hyperammonemia  (IAGP)
Hyperuricemia  (IAGP)
Hypoglycemia  (IAGP)
Hypoglycemic coma  (IAGP)
Hyporeflexia  (IAGP)
Hypotension  (IAGP)
Hypothermia  (IAGP)
Hypotonia  (IAGP)
Hypsarrhythmia  (IAGP)
Increased level of 3-hydroxy-3-methylglutaric acid in urine  (IAGP)
Increased level of hippuric acid in urine  (IAGP)
Increased serum lactate  (IAGP)
Intellectual disability, mild  (IAGP)
Intellectual disability, moderate  (IAGP)
Intellectual disability, severe  (IAGP)
Jaundice  (IAGP)
Ketonuria  (IAGP)
Lethargy  (IAGP)
Leukocytosis  (IAGP)
Leukoencephalopathy  (IAGP)
Leukopenia  (IAGP)
Lipid accumulation in hepatocytes  (IAGP)
Metabolic acidosis  (IAGP)
Microcephaly  (IAGP)
Myoclonus  (IAGP)
Nonketotic hypoglycemia  (IAGP)
Pallor  (IAGP)
Prolonged prothrombin time  (IAGP)
Psychomotor retardation  (IAGP)
Recurrent hypoglycemia  (IAGP)
Reye syndrome-like episodes  (IAGP)
Seizure  (IAGP)
Spastic hemiparesis  (IAGP)
Spasticity  (IAGP)
Tachypnea  (IAGP)
Thrombocytosis  (IAGP)
Vomiting  (IAGP)
Weight loss  (IAGP)
References

Additional References at PubMed
PMID:2116546   PMID:7527399   PMID:8027038   PMID:8102917   PMID:8617516   PMID:8670134   PMID:8798725   PMID:8889548   PMID:8978493   PMID:9200711   PMID:9463337   PMID:9869651  
PMID:11129331   PMID:11952809   PMID:12464283   PMID:12477932   PMID:14702039   PMID:15122894   PMID:15164951   PMID:15489334   PMID:15752612   PMID:15764642   PMID:16169070   PMID:16330550  
PMID:16344560   PMID:17173698   PMID:17459752   PMID:19036343   PMID:19177531   PMID:19932602   PMID:20178365   PMID:20558737   PMID:20877624   PMID:21514269   PMID:21873635   PMID:21900206  
PMID:21952825   PMID:21988832   PMID:22496890   PMID:22847177   PMID:22865860   PMID:23465862   PMID:24333427   PMID:25708061   PMID:25872961   PMID:26186194   PMID:26344197   PMID:28380382  
PMID:28468827   PMID:28514442   PMID:28931870   PMID:29568061   PMID:30948266   PMID:31091453   PMID:31536960   PMID:32457219  


Genomics

Comparative Map Data
HMGCL
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl123,801,885 - 23,838,620 (-)EnsemblGRCh38hg38GRCh38
GRCh38123,801,885 - 23,825,429 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37124,128,375 - 24,151,919 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36124,000,954 - 24,024,536 (-)NCBINCBI36hg18NCBI36
Build 34123,873,682 - 23,897,218NCBI
Celera122,457,935 - 22,481,518 (-)NCBI
Cytogenetic Map1p36.11NCBI
HuRef122,379,944 - 22,403,530 (-)NCBIHuRef
CHM1_1124,241,156 - 24,264,719 (-)NCBICHM1_1
Hmgcl
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm394135,673,745 - 135,689,979 (+)NCBIGRCm39mm39
GRCm39 Ensembl4135,673,759 - 135,689,928 (+)Ensembl
GRCm384135,946,448 - 135,962,668 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl4135,946,448 - 135,962,617 (+)EnsemblGRCm38mm10GRCm38
MGSCv374135,502,368 - 135,518,532 (+)NCBIGRCm37mm9NCBIm37
MGSCv364135,218,521 - 135,234,689 (+)NCBImm8
Celera4134,147,609 - 134,163,748 (+)NCBICelera
Cytogenetic Map4D3NCBI
cM Map468.14NCBI
Hmgcl
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.25148,178,203 - 148,192,072 (+)NCBI
Rnor_6.0 Ensembl5154,294,806 - 154,308,640 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.05154,294,841 - 154,308,582 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.05158,059,692 - 158,073,433 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.45154,730,232 - 154,743,974 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.15154,740,270 - 154,754,013 (+)NCBI
Celera5146,585,153 - 146,598,872 (+)NCBICelera
Cytogenetic Map5q36NCBI
Hmgcl
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554523,720,103 - 3,735,192 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554523,720,103 - 3,734,730 (-)NCBIChiLan1.0ChiLan1.0
HMGCL
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1123,977,723 - 24,016,262 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl123,977,723 - 24,001,150 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0122,993,489 - 23,017,307 (-)NCBIMhudiblu_PPA_v0panPan3
HMGCL
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1275,688,736 - 75,703,095 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl275,688,827 - 75,702,965 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha272,258,838 - 72,273,447 (+)NCBI
ROS_Cfam_1.0276,248,035 - 76,262,645 (+)NCBI
UMICH_Zoey_3.1273,070,389 - 73,084,998 (+)NCBI
UNSW_CanFamBas_1.0274,077,019 - 74,091,642 (+)NCBI
UU_Cfam_GSD_1.0275,082,631 - 75,097,245 (+)NCBI
Hmgcl
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440505843,130,437 - 43,146,341 (-)NCBI
SpeTri2.0NW_0049364748,955,216 - 8,971,078 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
HMGCL
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl681,611,422 - 81,630,530 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1681,611,516 - 81,630,454 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2675,396,399 - 75,415,349 (+)NCBISscrofa10.2Sscrofa10.2susScr3
HMGCL
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.120108,846,313 - 108,883,702 (+)NCBI
ChlSab1.1 Ensembl20108,860,613 - 108,884,473 (+)Ensembl
Hmgcl
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247648,349,288 - 8,363,178 (-)NCBI

Position Markers
AL033765  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37124,142,428 - 24,142,558UniSTSGRCh37
Build 36124,015,015 - 24,015,145RGDNCBI36
Celera122,471,996 - 22,472,126RGD
Cytogenetic Map1p36.1-p35UniSTS
HuRef122,394,005 - 22,394,135UniSTS
GDB:549168  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37124,152,023 - 24,152,117UniSTSGRCh37
Build 36124,024,610 - 24,024,704RGDNCBI36
Celera122,481,592 - 22,481,686RGD
Cytogenetic Map1p36.1-p35UniSTS
HuRef122,403,604 - 22,403,698UniSTS
GDB:636092  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37124,128,442 - 24,128,546UniSTSGRCh37
Build 36124,001,029 - 24,001,133RGDNCBI36
Celera122,458,010 - 22,458,114RGD
Cytogenetic Map1p36-p35UniSTS
Cytogenetic Map1p36.1-p35UniSTS
HuRef122,380,019 - 22,380,123UniSTS
RH68992  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37124,128,431 - 24,128,689UniSTSGRCh37
Build 36124,001,018 - 24,001,276RGDNCBI36
Celera122,457,999 - 22,458,257RGD
Cytogenetic Map1p36-p35UniSTS
Cytogenetic Map1p36.1-p35UniSTS
HuRef122,380,008 - 22,380,266UniSTS
GeneMap99-GB4 RH Map182.9UniSTS
NCBI RH Map1124.2UniSTS
D1S3295  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37124,128,409 - 24,128,531UniSTSGRCh37
Build 36124,000,996 - 24,001,118RGDNCBI36
Celera122,457,977 - 22,458,099RGD
Cytogenetic Map1p36-p35UniSTS
Cytogenetic Map1p36.1-p35UniSTS
HuRef122,379,986 - 22,380,108UniSTS
Stanford-G3 RH Map11033.0UniSTS
GeneMap99-GB4 RH Map182.9UniSTS
NCBI RH Map1124.2UniSTS
GeneMap99-G3 RH Map11303.0UniSTS
SHGC-12784  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37124,128,580 - 24,128,909UniSTSGRCh37
Build 36124,001,167 - 24,001,496RGDNCBI36
Celera122,458,148 - 22,458,477RGD
Cytogenetic Map1p36-p35UniSTS
Cytogenetic Map1p36.1-p35UniSTS
HuRef122,380,157 - 22,380,486UniSTS
GeneMap99-G3 RH Map11391.0UniSTS
HMGCL__6576  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37124,128,303 - 24,129,025UniSTSGRCh37
Build 36124,000,890 - 24,001,612RGDNCBI36
Celera122,457,871 - 22,458,593RGD
HuRef122,379,880 - 22,380,602UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2511
Count of miRNA genes:813
Interacting mature miRNAs:950
Transcripts:ENST00000235958, ENST00000374483, ENST00000374487, ENST00000374490, ENST00000436439, ENST00000479458, ENST00000496907, ENST00000498698, ENST00000509389, ENST00000513148
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 2365 1759 1706 613 1221 459 3928 1637 1402 389 1354 1478 168 1 1125 2537 3 2
Low 74 1232 20 11 730 6 429 560 2332 30 106 135 7 79 251 3
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_013061 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000191 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001166059 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AH003700 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI202943 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK122801 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300733 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309129 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313869 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL031295 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL590728 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC010570 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC021145 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM981610 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT009792 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA306929 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471134 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR456884 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA425822 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ472654 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GU433941 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JN001327 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L07033 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000235958   ⟹   ENSP00000235958
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl123,801,910 - 23,825,402 (-)Ensembl
RefSeq Acc Id: ENST00000374487
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl123,801,887 - 23,838,620 (-)Ensembl
RefSeq Acc Id: ENST00000374490   ⟹   ENSP00000363614
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl123,801,885 - 23,825,429 (-)Ensembl
RefSeq Acc Id: ENST00000436439   ⟹   ENSP00000389281
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl123,801,887 - 23,825,428 (-)Ensembl
RefSeq Acc Id: ENST00000479458
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl123,813,832 - 23,816,761 (-)Ensembl
RefSeq Acc Id: ENST00000496907
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl123,806,700 - 23,814,321 (-)Ensembl
RefSeq Acc Id: ENST00000498698
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl123,816,366 - 23,817,533 (-)Ensembl
RefSeq Acc Id: ENST00000509389
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl123,803,588 - 23,825,427 (-)Ensembl
RefSeq Acc Id: ENST00000513148
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl123,809,287 - 23,825,416 (-)Ensembl
RefSeq Acc Id: NM_000191   ⟹   NP_000182
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38123,801,885 - 23,825,429 (-)NCBI
GRCh37124,128,367 - 24,165,110 (-)NCBI
Build 36124,000,954 - 24,024,536 (-)NCBI Archive
HuRef122,379,944 - 22,403,530 (-)ENTREZGENE
CHM1_1124,241,156 - 24,264,719 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001166059   ⟹   NP_001159531
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38123,801,885 - 23,825,429 (-)NCBI
GRCh37124,128,367 - 24,165,110 (-)NCBI
HuRef122,379,944 - 22,403,530 (-)ENTREZGENE
CHM1_1124,241,156 - 24,264,719 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001159531   ⟸   NM_001166059
- Peptide Label: isoform 2 precursor
- UniProtKB: P35914 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_000182   ⟸   NM_000191
- Peptide Label: isoform 1 precursor
- UniProtKB: P35914 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000363614   ⟸   ENST00000374490
RefSeq Acc Id: ENSP00000235958   ⟸   ENST00000235958
RefSeq Acc Id: ENSP00000389281   ⟸   ENST00000436439
Promoters
RGD ID:6854492
Promoter ID:EPDNEW_H411
Type:initiation region
Name:HMGCL_1
Description:3-hydroxymethyl-3-methylglutaryl-CoA lyase
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
GRCh38123,825,428 - 23,825,488EPDNEW
RGD ID:6809574
Promoter ID:HG_ACW:1044
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:HMGCLANDGALE.VLAPR07-UNSPLICED
Position:
Human AssemblyChrPosition (strand)Source
Build 36124,009,911 - 24,010,411 (-)MPROMDB
RGD ID:6785725
Promoter ID:HG_KWN:1344
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:ENST00000374483,   NM_000191,   NM_001166059,   OTTHUMT00000008256,   UC001BID.1,   UC009VQR.1,   UC009VQS.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36124,024,401 - 24,025,112 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000191.3(HMGCL):c.914_915del (p.Phe305fs) deletion Deficiency of hydroxymethylglutaryl-CoA lyase [RCV000032616]|not provided [RCV000724623] Chr1:23802526..23802527 [GRCh38]
Chr1:24129016..24129017 [GRCh37]
Chr1:1p36.11
pathogenic
NM_000191.3(HMGCL):c.202_203CT[2] (p.Ser69fs) microsatellite Deficiency of hydroxymethylglutaryl-CoA lyase [RCV000012732]|not provided [RCV000185970] Chr1:23817521..23817522 [GRCh38]
Chr1:24144011..24144012 [GRCh37]
Chr1:1p36.11
pathogenic|likely pathogenic
HMGCL, 930-BP DEL, EX3-6DEL deletion Deficiency of hydroxymethylglutaryl-CoA lyase [RCV000012734] Chr1:1pter-p33 pathogenic
NM_000191.3(HMGCL):c.208G>C (p.Val70Leu) single nucleotide variant Deficiency of hydroxymethylglutaryl-CoA lyase [RCV000012733] Chr1:23817520 [GRCh38]
Chr1:24144010 [GRCh37]
Chr1:1p36.11
pathogenic|uncertain significance
NM_000191.3(HMGCL):c.122G>A (p.Arg41Gln) single nucleotide variant Deficiency of hydroxymethylglutaryl-CoA lyase [RCV000012735]|not provided [RCV000078342] Chr1:23820532 [GRCh38]
Chr1:24147022 [GRCh37]
Chr1:1p36.11
pathogenic
NM_000191.3(HMGCL):c.835G>A (p.Glu279Lys) single nucleotide variant Deficiency of hydroxymethylglutaryl-CoA lyase [RCV000012736] Chr1:23804441 [GRCh38]
Chr1:24130931 [GRCh37]
Chr1:1p36.11
pathogenic
NM_000191.3(HMGCL):c.654A>G (p.Leu218=) single nucleotide variant Deficiency of hydroxymethylglutaryl-CoA lyase [RCV000268428]|not specified [RCV000078343] Chr1:23808231 [GRCh38]
Chr1:24134721 [GRCh37]
Chr1:1p36.11
benign
NM_000191.3(HMGCL):c.109G>T (p.Glu37Ter) single nucleotide variant Deficiency of hydroxymethylglutaryl-CoA lyase [RCV000175544]|not provided [RCV000400835] Chr1:23820545 [GRCh38]
Chr1:24147035 [GRCh37]
Chr1:1p36.11
pathogenic
NM_000191.3(HMGCL):c.698A>G (p.His233Arg) single nucleotide variant Deficiency of hydroxymethylglutaryl-CoA lyase [RCV000665316]|not provided [RCV000153365] Chr1:23808187 [GRCh38]
Chr1:24134677 [GRCh37]
Chr1:1p36.11
pathogenic|likely pathogenic
NM_000191.3(HMGCL):c.497+3G>A single nucleotide variant Deficiency of hydroxymethylglutaryl-CoA lyase [RCV000282964] Chr1:23814187 [GRCh38]
Chr1:24140677 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_000191.3(HMGCL):c.750+14T>A single nucleotide variant Deficiency of hydroxymethylglutaryl-CoA lyase [RCV000262254] Chr1:23808121 [GRCh38]
Chr1:24134611 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_000191.3(HMGCL):c.594C>T (p.Tyr198=) single nucleotide variant Deficiency of hydroxymethylglutaryl-CoA lyase [RCV000378120]|Deficiency of long-chain 3-hydroxyacyl-coenzyme A dehydrogenase [RCV001273181] Chr1:23808291 [GRCh38]
Chr1:24134781 [GRCh37]
Chr1:1p36.11
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000191.3(HMGCL):c.48G>A (p.Ala16=) single nucleotide variant Deficiency of hydroxymethylglutaryl-CoA lyase [RCV000383162]|not specified [RCV000441882] Chr1:23825368 [GRCh38]
Chr1:24151858 [GRCh37]
Chr1:1p36.11
benign|likely benign
Single allele complex Ductal breast carcinoma [RCV000207058] Chr1:909238..24706269 [GRCh37]
Chr1:1p36.33-36.11
uncertain significance
chr1:17555508-24706269 complex variant complex Ductal breast carcinoma [RCV000207266] Chr1:17555508..24706269 [GRCh37]
Chr1:1p36.13-36.11
uncertain significance
NM_000191.3(HMGCL):c.121C>T (p.Arg41Ter) single nucleotide variant Deficiency of hydroxymethylglutaryl-CoA lyase [RCV000669475] Chr1:23820533 [GRCh38]
Chr1:24147023 [GRCh37]
Chr1:1p36.11
likely pathogenic
NM_000191.3(HMGCL):c.734C>T (p.Thr245Ile) single nucleotide variant Deficiency of hydroxymethylglutaryl-CoA lyase [RCV000317462] Chr1:23808151 [GRCh38]
Chr1:24134641 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_000191.3(HMGCL):c.828G>A (p.Leu276=) single nucleotide variant Deficiency of hydroxymethylglutaryl-CoA lyase [RCV000356945] Chr1:23804448 [GRCh38]
Chr1:24130938 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_000191.3(HMGCL):c.252+34T>C single nucleotide variant not specified [RCV000243660] Chr1:23817442 [GRCh38]
Chr1:24143932 [GRCh37]
Chr1:1p36.11
benign
NM_000191.3(HMGCL):c.*194C>G single nucleotide variant Deficiency of hydroxymethylglutaryl-CoA lyase [RCV000275638] Chr1:23802269 [GRCh38]
Chr1:24128759 [GRCh37]
Chr1:1p36.11
likely benign|uncertain significance
NM_000191.3(HMGCL):c.*289G>T single nucleotide variant Deficiency of hydroxymethylglutaryl-CoA lyase [RCV000370139] Chr1:23802174 [GRCh38]
Chr1:24128664 [GRCh37]
Chr1:1p36.11
likely benign|uncertain significance
NM_000191.3(HMGCL):c.*104G>A single nucleotide variant Deficiency of hydroxymethylglutaryl-CoA lyase [RCV000311528] Chr1:23802359 [GRCh38]
Chr1:24128849 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_000191.3(HMGCL):c.765C>T (p.Val255=) single nucleotide variant Deficiency of hydroxymethylglutaryl-CoA lyase [RCV001280064] Chr1:23804511 [GRCh38]
Chr1:24131001 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_000191.3(HMGCL):c.593A>G (p.Tyr198Cys) single nucleotide variant Deficiency of hydroxymethylglutaryl-CoA lyase [RCV001280066] Chr1:23808292 [GRCh38]
Chr1:24134782 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_000191.3(HMGCL):c.184A>G (p.Met62Val) single nucleotide variant Deficiency of hydroxymethylglutaryl-CoA lyase [RCV001280068] Chr1:23817544 [GRCh38]
Chr1:24144034 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_000191.3(HMGCL):c.494G>A (p.Arg165Gln) single nucleotide variant not provided [RCV000594403] Chr1:23814193 [GRCh38]
Chr1:24140683 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_000191.3(HMGCL):c.*290T>C single nucleotide variant Deficiency of hydroxymethylglutaryl-CoA lyase [RCV000315567] Chr1:23802173 [GRCh38]
Chr1:24128663 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_000191.3(HMGCL):c.254T>C (p.Met85Thr) single nucleotide variant Deficiency of hydroxymethylglutaryl-CoA lyase [RCV000347350] Chr1:23816769 [GRCh38]
Chr1:24143259 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_000191.3(HMGCL):c.*486G>A single nucleotide variant Deficiency of hydroxymethylglutaryl-CoA lyase [RCV000345640]|UDPglucose-4-epimerase deficiency [RCV000343484] Chr1:23801977 [GRCh38]
Chr1:24128467 [GRCh37]
Chr1:1p36.11
benign
NM_000191.3(HMGCL):c.630C>T (p.Thr210=) single nucleotide variant Deficiency of hydroxymethylglutaryl-CoA lyase [RCV000323505] Chr1:23808255 [GRCh38]
Chr1:24134745 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_000191.3(HMGCL):c.708C>T (p.Asp236=) single nucleotide variant Deficiency of hydroxymethylglutaryl-CoA lyase [RCV000372142]|not provided [RCV000942083] Chr1:23808177 [GRCh38]
Chr1:24134667 [GRCh37]
Chr1:1p36.11
likely benign|uncertain significance
NM_000191.3(HMGCL):c.*414G>A single nucleotide variant Deficiency of hydroxymethylglutaryl-CoA lyase [RCV000391720] Chr1:23802049 [GRCh38]
Chr1:24128539 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_000191.2(HMGCL):c.-59A>C single nucleotide variant Deficiency of hydroxymethylglutaryl-CoA lyase [RCV000403712]|not provided [RCV000835422] Chr1:23825474 [GRCh38]
Chr1:24151964 [GRCh37]
Chr1:1p36.11
likely benign
NM_001166059.1(HMGCL):c.-41G>C single nucleotide variant Deficiency of hydroxymethylglutaryl-CoA lyase [RCV000288840] Chr1:23825456 [GRCh38]
Chr1:24151946 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_001008216.2(GALE):c.-77+311C>T single nucleotide variant Deficiency of hydroxymethylglutaryl-CoA lyase [RCV000288572]|UDPglucose-4-epimerase deficiency [RCV000401588] Chr1:23800401 [GRCh38]
Chr1:24126891 [GRCh37]
Chr1:1p36.11
likely benign
NM_000191.3(HMGCL):c.499T>A (p.Tyr167Asn) single nucleotide variant Deficiency of hydroxymethylglutaryl-CoA lyase [RCV000626227] Chr1:23810798 [GRCh38]
Chr1:24137288 [GRCh37]
Chr1:1p36.11
pathogenic
NM_000191.3(HMGCL):c.562-3T>G single nucleotide variant not provided [RCV000593440] Chr1:23808326 [GRCh38]
Chr1:24134816 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_000191.3(HMGCL):c.443A>G (p.Gln148Arg) single nucleotide variant Deficiency of hydroxymethylglutaryl-CoA lyase [RCV000946057]|not specified [RCV000603476] Chr1:23814244 [GRCh38]
Chr1:24140734 [GRCh37]
Chr1:1p36.11
benign|likely benign
NM_000191.3(HMGCL):c.602C>A (p.Ser201Tyr) single nucleotide variant Deficiency of hydroxymethylglutaryl-CoA lyase [RCV000672903]|not provided [RCV000522404] Chr1:23808283 [GRCh38]
Chr1:24134773 [GRCh37]
Chr1:1p36.11
pathogenic|uncertain significance
NM_000191.3(HMGCL):c.181G>C (p.Asp61His) single nucleotide variant not provided [RCV000731508] Chr1:23817547 [GRCh38]
Chr1:24144037 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_000191.3(HMGCL):c.561+20C>G single nucleotide variant not specified [RCV000427266] Chr1:23810716 [GRCh38]
Chr1:24137206 [GRCh37]
Chr1:1p36.11
likely benign
NM_000191.3(HMGCL):c.84T>C (p.Thr28=) single nucleotide variant Deficiency of hydroxymethylglutaryl-CoA lyase [RCV000899451]|not specified [RCV000431031] Chr1:23820570 [GRCh38]
Chr1:24147060 [GRCh37]
Chr1:1p36.11
likely benign
NM_000191.3(HMGCL):c.-13A>G single nucleotide variant not specified [RCV000444940] Chr1:23825428 [GRCh38]
Chr1:24151918 [GRCh37]
Chr1:1p36.11
likely benign
NM_000191.3(HMGCL):c.145-8C>T single nucleotide variant Deficiency of hydroxymethylglutaryl-CoA lyase [RCV000634903]|not specified [RCV000441659] Chr1:23817591 [GRCh38]
Chr1:24144081 [GRCh37]
Chr1:1p36.11
likely benign
NM_000191.3(HMGCL):c.498-10C>A single nucleotide variant Deficiency of hydroxymethylglutaryl-CoA lyase [RCV000693409]|not specified [RCV000429344] Chr1:23810809 [GRCh38]
Chr1:24137299 [GRCh37]
Chr1:1p36.11
likely benign|uncertain significance
NM_000191.3(HMGCL):c.145-13C>T single nucleotide variant not specified [RCV000440233] Chr1:23817596 [GRCh38]
Chr1:24144086 [GRCh37]
Chr1:1p36.11
likely benign
NM_000191.3(HMGCL):c.393A>G (p.Ser131=) single nucleotide variant Deficiency of hydroxymethylglutaryl-CoA lyase [RCV000536522]|not specified [RCV000423153] Chr1:23814294 [GRCh38]
Chr1:24140784 [GRCh37]
Chr1:1p36.11
benign|likely benign
NM_000191.3(HMGCL):c.61-17C>T single nucleotide variant not specified [RCV000440837] Chr1:23820610 [GRCh38]
Chr1:24147100 [GRCh37]
Chr1:1p36.11
likely benign
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
NM_000191.3(HMGCL):c.497+4A>G single nucleotide variant Deficiency of hydroxymethylglutaryl-CoA lyase [RCV000665452]|not provided [RCV000498294] Chr1:23814186 [GRCh38]
Chr1:24140676 [GRCh37]
Chr1:1p36.11
likely pathogenic|uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
NM_000191.3(HMGCL):c.244G>A (p.Val82Ile) single nucleotide variant Deficiency of hydroxymethylglutaryl-CoA lyase [RCV001240005]|Deficiency of long-chain 3-hydroxyacyl-coenzyme A dehydrogenase [RCV001273184]|not provided [RCV000519900] Chr1:23817484 [GRCh38]
Chr1:24143974 [GRCh37]
Chr1:1p36.11
benign|uncertain significance
NM_000191.3(HMGCL):c.121dup (p.Arg41fs) duplication Deficiency of hydroxymethylglutaryl-CoA lyase [RCV000672347] Chr1:23820532..23820533 [GRCh38]
Chr1:24147022..24147023 [GRCh37]
Chr1:1p36.11
likely pathogenic
NM_000191.3(HMGCL):c.413del (p.Asn138fs) deletion Deficiency of hydroxymethylglutaryl-CoA lyase [RCV000672095] Chr1:23814274 [GRCh38]
Chr1:24140764 [GRCh37]
Chr1:1p36.11
likely pathogenic
NM_000191.3(HMGCL):c.345A>C (p.Ala115=) single nucleotide variant not specified [RCV000615813] Chr1:23816678 [GRCh38]
Chr1:24143168 [GRCh37]
Chr1:1p36.11
likely benign
NM_000191.3(HMGCL):c.604C>T (p.Leu202=) single nucleotide variant Deficiency of hydroxymethylglutaryl-CoA lyase [RCV000915905]|not specified [RCV000613938] Chr1:23808281 [GRCh38]
Chr1:24134771 [GRCh37]
Chr1:1p36.11
likely benign
NM_000191.3(HMGCL):c.31C>T (p.Arg11Ter) single nucleotide variant Deficiency of hydroxymethylglutaryl-CoA lyase [RCV000671133]|Inborn genetic diseases [RCV000623341] Chr1:23825385 [GRCh38]
Chr1:24151875 [GRCh37]
Chr1:1p36.11
pathogenic
NM_000191.3(HMGCL):c.497+19G>A single nucleotide variant not specified [RCV000604561] Chr1:23814171 [GRCh38]
Chr1:24140661 [GRCh37]
Chr1:1p36.11
likely benign
NM_000191.3(HMGCL):c.503_504TC[1] (p.Ser169fs) microsatellite Deficiency of hydroxymethylglutaryl-CoA lyase [RCV000672012]|Inborn genetic diseases [RCV000624137] Chr1:23810791..23810792 [GRCh38]
Chr1:24137281..24137282 [GRCh37]
Chr1:1p36.11
pathogenic
NM_000191.3(HMGCL):c.663C>T (p.Val221=) single nucleotide variant Deficiency of hydroxymethylglutaryl-CoA lyase [RCV000634902] Chr1:23808222 [GRCh38]
Chr1:24134712 [GRCh37]
Chr1:1p36.11
likely benign
NM_000191.3(HMGCL):c.933C>T (p.Asn311=) single nucleotide variant not provided [RCV000634904] Chr1:23802508 [GRCh38]
Chr1:24128998 [GRCh37]
Chr1:1p36.11
likely benign
NM_000191.3(HMGCL):c.562-2A>G single nucleotide variant Deficiency of hydroxymethylglutaryl-CoA lyase [RCV000672261] Chr1:23808325 [GRCh38]
Chr1:24134815 [GRCh37]
Chr1:1p36.11
likely pathogenic
NM_000191.3(HMGCL):c.286del (p.Gln96fs) deletion Deficiency of hydroxymethylglutaryl-CoA lyase [RCV000670074] Chr1:23816737 [GRCh38]
Chr1:24143227 [GRCh37]
Chr1:1p36.11
likely pathogenic
NM_000191.3(HMGCL):c.60+1G>T single nucleotide variant Deficiency of hydroxymethylglutaryl-CoA lyase [RCV000671577] Chr1:23825355 [GRCh38]
Chr1:24151845 [GRCh37]
Chr1:1p36.11
likely pathogenic
NM_000191.3(HMGCL):c.678_686dup (p.Ala229_Ala231dup) duplication Deficiency of hydroxymethylglutaryl-CoA lyase [RCV000671121] Chr1:23808198..23808199 [GRCh38]
Chr1:24134688..24134689 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_000191.3(HMGCL):c.608G>A (p.Gly203Glu) single nucleotide variant Deficiency of hydroxymethylglutaryl-CoA lyase [RCV000668593] Chr1:23808277 [GRCh38]
Chr1:24134767 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_000191.3(HMGCL):c.501C>G (p.Tyr167Ter) single nucleotide variant Deficiency of hydroxymethylglutaryl-CoA lyase [RCV000672306] Chr1:23810796 [GRCh38]
Chr1:24137286 [GRCh37]
Chr1:1p36.11
likely pathogenic
NM_000191.3(HMGCL):c.528T>A (p.Tyr176Ter) single nucleotide variant Deficiency of hydroxymethylglutaryl-CoA lyase [RCV000673585] Chr1:23810769 [GRCh38]
Chr1:24137259 [GRCh37]
Chr1:1p36.11
likely pathogenic
NM_000191.3(HMGCL):c.528T>G (p.Tyr176Ter) single nucleotide variant Deficiency of hydroxymethylglutaryl-CoA lyase [RCV000670504] Chr1:23810769 [GRCh38]
Chr1:24137259 [GRCh37]
Chr1:1p36.11
likely pathogenic
NM_000191.3(HMGCL):c.3G>T (p.Met1Ile) single nucleotide variant Deficiency of hydroxymethylglutaryl-CoA lyase [RCV000670399] Chr1:23825413 [GRCh38]
Chr1:24151903 [GRCh37]
Chr1:1p36.11
likely pathogenic
NM_000191.3(HMGCL):c.976T>C (p.Ter326Arg) single nucleotide variant Deficiency of hydroxymethylglutaryl-CoA lyase [RCV000671491] Chr1:23802465 [GRCh38]
Chr1:24128955 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_000191.3(HMGCL):c.958C>T (p.Gln320Ter) single nucleotide variant Deficiency of hydroxymethylglutaryl-CoA lyase [RCV000667700] Chr1:23802483 [GRCh38]
Chr1:24128973 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_000191.3(HMGCL):c.825C>G (p.Asn275Lys) single nucleotide variant Deficiency of hydroxymethylglutaryl-CoA lyase [RCV000672781] Chr1:23804451 [GRCh38]
Chr1:24130941 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_000191.3(HMGCL):c.977G>C (p.Ter326Ser) single nucleotide variant Deficiency of hydroxymethylglutaryl-CoA lyase [RCV000674531] Chr1:23802464 [GRCh38]
Chr1:24128954 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_000191.3(HMGCL):c.796T>C (p.Cys266Arg) single nucleotide variant Deficiency of hydroxymethylglutaryl-CoA lyase [RCV000668025] Chr1:23804480 [GRCh38]
Chr1:24130970 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_000191.3(HMGCL):c.863T>A (p.Leu288Ter) single nucleotide variant Deficiency of hydroxymethylglutaryl-CoA lyase [RCV000668130] Chr1:23804413 [GRCh38]
Chr1:24130903 [GRCh37]
Chr1:1p36.11
likely pathogenic
NM_000191.3(HMGCL):c.493C>T (p.Arg165Trp) single nucleotide variant Deficiency of hydroxymethylglutaryl-CoA lyase [RCV000674878] Chr1:23814194 [GRCh38]
Chr1:24140684 [GRCh37]
Chr1:1p36.11
conflicting interpretations of pathogenicity|uncertain significance
NM_000191.3(HMGCL):c.27del (p.Arg10fs) deletion Deficiency of hydroxymethylglutaryl-CoA lyase [RCV000673450] Chr1:23825389 [GRCh38]
Chr1:24151879 [GRCh37]
Chr1:1p36.11
pathogenic
NM_000191.3(HMGCL):c.286C>T (p.Gln96Ter) single nucleotide variant Deficiency of hydroxymethylglutaryl-CoA lyase [RCV000673631] Chr1:23816737 [GRCh38]
Chr1:24143227 [GRCh37]
Chr1:1p36.11
likely pathogenic
NM_000191.3(HMGCL):c.804C>A (p.Tyr268Ter) single nucleotide variant Deficiency of hydroxymethylglutaryl-CoA lyase [RCV000667662] Chr1:23804472 [GRCh38]
Chr1:24130962 [GRCh37]
Chr1:1p36.11
likely pathogenic
NM_000191.3(HMGCL):c.945C>G (p.Ser315Arg) single nucleotide variant Deficiency of hydroxymethylglutaryl-CoA lyase [RCV000689485] Chr1:23802496 [GRCh38]
Chr1:24128986 [GRCh37]
Chr1:1p36.11
uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44
pathogenic
NM_000191.3(HMGCL):c.375C>T (p.Val125=) single nucleotide variant Deficiency of hydroxymethylglutaryl-CoA lyase [RCV000937693]|Deficiency of long-chain 3-hydroxyacyl-coenzyme A dehydrogenase [RCV001273183] Chr1:23814312 [GRCh38]
Chr1:24140802 [GRCh37]
Chr1:1p36.11
benign|uncertain significance
GRCh37/hg19 1p36.12-12(chr1:20608823-120546301)x3 copy number loss not provided [RCV000762767] Chr1:20608823..120546301 [GRCh37]
Chr1:1p36.12-12
likely benign
GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3 copy number gain Global developmental delay [RCV000787285] Chr1:103343285..103455144 [GRCh37]
Chr1:1p36.22-21.1
uncertain significance
NM_000191.3(HMGCL):c.454G>A (p.Ala152Thr) single nucleotide variant Deficiency of hydroxymethylglutaryl-CoA lyase [RCV000944588] Chr1:23814233 [GRCh38]
Chr1:24140723 [GRCh37]
Chr1:1p36.11
benign|conflicting interpretations of pathogenicity
NM_000191.3(HMGCL):c.471G>A (p.Ala157=) single nucleotide variant Deficiency of hydroxymethylglutaryl-CoA lyase [RCV000945195] Chr1:23814216 [GRCh38]
Chr1:24140706 [GRCh37]
Chr1:1p36.11
likely benign
NM_000191.3(HMGCL):c.564C>G (p.Val188=) single nucleotide variant Deficiency of hydroxymethylglutaryl-CoA lyase [RCV000924247] Chr1:23808321 [GRCh38]
Chr1:24134811 [GRCh37]
Chr1:1p36.11
likely benign
NM_000191.3(HMGCL):c.675G>A (p.Val225=) single nucleotide variant not provided [RCV000942119] Chr1:23808210 [GRCh38]
Chr1:24134700 [GRCh37]
Chr1:1p36.11
likely benign
NM_000191.3(HMGCL):c.853del (p.Met284_Leu285insTer) deletion Deficiency of hydroxymethylglutaryl-CoA lyase [RCV000778975] Chr1:23804423 [GRCh38]
Chr1:24130913 [GRCh37]
Chr1:1p36.11
conflicting interpretations of pathogenicity|uncertain significance
NM_000191.3(HMGCL):c.717T>G (p.Gly239=) single nucleotide variant Deficiency of hydroxymethylglutaryl-CoA lyase [RCV001273180]|not provided [RCV000926562] Chr1:23808168 [GRCh38]
Chr1:24134658 [GRCh37]
Chr1:1p36.11
likely benign
NM_000191.3(HMGCL):c.765C>G (p.Val255=) single nucleotide variant not provided [RCV000933020] Chr1:23804511 [GRCh38]
Chr1:24131001 [GRCh37]
Chr1:1p36.11
likely benign
NM_000191.3(HMGCL):c.636G>A (p.Gly212=) single nucleotide variant Deficiency of hydroxymethylglutaryl-CoA lyase [RCV000942077] Chr1:23808249 [GRCh38]
Chr1:24134739 [GRCh37]
Chr1:1p36.11
likely benign
NM_000191.3(HMGCL):c.735C>A (p.Thr245=) single nucleotide variant Deficiency of hydroxymethylglutaryl-CoA lyase [RCV000871945] Chr1:23808150 [GRCh38]
Chr1:24134640 [GRCh37]
Chr1:1p36.11
likely benign
NM_000191.3(HMGCL):c.501C>T (p.Tyr167=) single nucleotide variant Deficiency of hydroxymethylglutaryl-CoA lyase [RCV000946399] Chr1:23810796 [GRCh38]
Chr1:24137286 [GRCh37]
Chr1:1p36.11
likely benign|conflicting interpretations of pathogenicity
NM_000191.3(HMGCL):c.528T>C (p.Tyr176=) single nucleotide variant Deficiency of hydroxymethylglutaryl-CoA lyase [RCV000872904] Chr1:23810769 [GRCh38]
Chr1:24137259 [GRCh37]
Chr1:1p36.11
likely benign
NM_000191.3(HMGCL):c.804C>T (p.Tyr268=) single nucleotide variant Deficiency of hydroxymethylglutaryl-CoA lyase [RCV000941539] Chr1:23804472 [GRCh38]
Chr1:24130962 [GRCh37]
Chr1:1p36.11
likely benign
NM_000191.3(HMGCL):c.858G>A (p.Glu286=) single nucleotide variant Deficiency of hydroxymethylglutaryl-CoA lyase [RCV000944264]|Deficiency of long-chain 3-hydroxyacyl-coenzyme A dehydrogenase [RCV001272172] Chr1:23804418 [GRCh38]
Chr1:24130908 [GRCh37]
Chr1:1p36.11
likely benign|uncertain significance
NM_000191.3(HMGCL):c.502G>A (p.Val168Ile) single nucleotide variant Deficiency of hydroxymethylglutaryl-CoA lyase [RCV000821064] Chr1:23810795 [GRCh38]
Chr1:24137285 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_000191.3(HMGCL):c.800C>A (p.Pro267His) single nucleotide variant Deficiency of hydroxymethylglutaryl-CoA lyase [RCV000798338] Chr1:23804476 [GRCh38]
Chr1:24130966 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_000191.3(HMGCL):c.470C>T (p.Ala157Val) single nucleotide variant Deficiency of hydroxymethylglutaryl-CoA lyase [RCV000808106]|Deficiency of long-chain 3-hydroxyacyl-coenzyme A dehydrogenase [RCV001273182] Chr1:23814217 [GRCh38]
Chr1:24140707 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_000191.3(HMGCL):c.624G>A (p.Val208=) single nucleotide variant Deficiency of hydroxymethylglutaryl-CoA lyase [RCV000803940] Chr1:23808261 [GRCh38]
Chr1:24134751 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_000191.3(HMGCL):c.218C>A (p.Thr73Asn) single nucleotide variant Deficiency of hydroxymethylglutaryl-CoA lyase [RCV000815363] Chr1:23817510 [GRCh38]
Chr1:24144000 [GRCh37]
Chr1:1p36.11
uncertain significance
NC_000001.11:g.23825474T>G single nucleotide variant not provided [RCV000835422] Chr1:24151964 [GRCh37]
Chr1:1p36.11
likely benign
NM_000191.3(HMGCL):c.561+13G>A single nucleotide variant not provided [RCV000842667] Chr1:23810723 [GRCh38]
Chr1:24137213 [GRCh37]
Chr1:1p36.11
likely benign
NM_000191.3(HMGCL):c.349-183G>A single nucleotide variant not provided [RCV000833051] Chr1:23814521 [GRCh38]
Chr1:24141011 [GRCh37]
Chr1:1p36.11
benign
NM_000191.3(HMGCL):c.787C>A (p.Leu263Ile) single nucleotide variant Deficiency of hydroxymethylglutaryl-CoA lyase [RCV001097009] Chr1:23804489 [GRCh38]
Chr1:24130979 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_000191.3(HMGCL):c.349-3C>A single nucleotide variant Deficiency of hydroxymethylglutaryl-CoA lyase [RCV001068285] Chr1:23814341 [GRCh38]
Chr1:24140831 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_000191.3(HMGCL):c.20C>G (p.Ala7Gly) single nucleotide variant not provided [RCV000993944] Chr1:23825396 [GRCh38]
Chr1:24151886 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_000191.3(HMGCL):c.629C>T (p.Thr210Ile) single nucleotide variant Deficiency of hydroxymethylglutaryl-CoA lyase [RCV000824476] Chr1:23808256 [GRCh38]
Chr1:24134746 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_000191.3(HMGCL):c.663C>G (p.Val221=) single nucleotide variant not provided [RCV000978678] Chr1:23808222 [GRCh38]
Chr1:24134712 [GRCh37]
Chr1:1p36.11
likely benign
NM_000191.3(HMGCL):c.750+163G>A single nucleotide variant not provided [RCV000844379] Chr1:23807972 [GRCh38]
Chr1:24134462 [GRCh37]
Chr1:1p36.11
benign
NM_000191.3(HMGCL):c.89C>T (p.Pro30Leu) single nucleotide variant Deficiency of hydroxymethylglutaryl-CoA lyase [RCV001219976] Chr1:23820565 [GRCh38]
Chr1:24147055 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_000191.3(HMGCL):c.94C>T (p.Arg32Trp) single nucleotide variant Deficiency of hydroxymethylglutaryl-CoA lyase [RCV001223541] Chr1:23820560 [GRCh38]
Chr1:24147050 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_000191.3(HMGCL):c.649A>G (p.Met217Val) single nucleotide variant Deficiency of hydroxymethylglutaryl-CoA lyase [RCV001202173] Chr1:23808236 [GRCh38]
Chr1:24134726 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_000191.3(HMGCL):c.419A>G (p.Asn140Ser) single nucleotide variant Deficiency of hydroxymethylglutaryl-CoA lyase [RCV001242447] Chr1:23814268 [GRCh38]
Chr1:24140758 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_000191.3(HMGCL):c.392C>T (p.Ser131Leu) single nucleotide variant Deficiency of hydroxymethylglutaryl-CoA lyase [RCV000986278] Chr1:23814295 [GRCh38]
Chr1:24140785 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_000191.3(HMGCL):c.876+1G>C single nucleotide variant Deficiency of hydroxymethylglutaryl-CoA lyase [RCV001196408] Chr1:23804399 [GRCh38]
Chr1:24130889 [GRCh37]
Chr1:1p36.11
pathogenic
NM_000191.3(HMGCL):c.720A>G (p.Gln240=) single nucleotide variant Deficiency of hydroxymethylglutaryl-CoA lyase [RCV001098745] Chr1:23808165 [GRCh38]
Chr1:24134655 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_000191.3(HMGCL):c.759G>A (p.Val253=) single nucleotide variant Deficiency of hydroxymethylglutaryl-CoA lyase [RCV000977498] Chr1:23804517 [GRCh38]
Chr1:24131007 [GRCh37]
Chr1:1p36.11
likely benign
NM_000191.3(HMGCL):c.349-10A>T single nucleotide variant Deficiency of hydroxymethylglutaryl-CoA lyase [RCV000926043] Chr1:23814348 [GRCh38]
Chr1:24140838 [GRCh37]
Chr1:1p36.11
likely benign
NM_000191.3(HMGCL):c.453C>T (p.Asp151=) single nucleotide variant Deficiency of hydroxymethylglutaryl-CoA lyase [RCV000876607] Chr1:23814234 [GRCh38]
Chr1:24140724 [GRCh37]
Chr1:1p36.11
likely benign
NM_000191.3(HMGCL):c.151G>A (p.Val51Ile) single nucleotide variant Deficiency of hydroxymethylglutaryl-CoA lyase [RCV001243584] Chr1:23817577 [GRCh38]
Chr1:24144067 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_000191.3(HMGCL):c.651G>T (p.Met217Ile) single nucleotide variant Deficiency of hydroxymethylglutaryl-CoA lyase [RCV001241697] Chr1:23808234 [GRCh38]
Chr1:24134724 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_000191.3(HMGCL):c.*388G>A single nucleotide variant Deficiency of hydroxymethylglutaryl-CoA lyase [RCV001102407] Chr1:23802075 [GRCh38]
Chr1:24128565 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_000191.3(HMGCL):c.933C>G (p.Asn311Lys) single nucleotide variant Deficiency of hydroxymethylglutaryl-CoA lyase [RCV001097008] Chr1:23802508 [GRCh38]
Chr1:24128998 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_000191.3(HMGCL):c.56G>C (p.Arg19Pro) single nucleotide variant Deficiency of hydroxymethylglutaryl-CoA lyase [RCV001100563] Chr1:23825360 [GRCh38]
Chr1:24151850 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_000191.3(HMGCL):c.173A>G (p.Lys58Arg) single nucleotide variant Deficiency of hydroxymethylglutaryl-CoA lyase [RCV001100562] Chr1:23817555 [GRCh38]
Chr1:24144045 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_000191.3(HMGCL):c.751-3T>C single nucleotide variant Deficiency of hydroxymethylglutaryl-CoA lyase [RCV001246403] Chr1:23804528 [GRCh38]
Chr1:24131018 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_000191.3(HMGCL):c.751-10_751-9del deletion Deficiency of hydroxymethylglutaryl-CoA lyase [RCV001034989] Chr1:23804534..23804535 [GRCh38]
Chr1:24131024..24131025 [GRCh37]
Chr1:1p36.11
uncertain significance
NC_000001.11:g.(?_23825336)_(23825435_?)del deletion Deficiency of hydroxymethylglutaryl-CoA lyase [RCV001033906] Chr1:24151826..24151925 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_000191.3(HMGCL):c.766G>A (p.Val256Met) single nucleotide variant Deficiency of hydroxymethylglutaryl-CoA lyase [RCV001056012] Chr1:23804510 [GRCh38]
Chr1:24131000 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_000191.3(HMGCL):c.374_375del (p.Val125fs) deletion Deficiency of hydroxymethylglutaryl-CoA lyase [RCV001215701] Chr1:23814312..23814313 [GRCh38]
Chr1:24140802..24140803 [GRCh37]
Chr1:1p36.11
pathogenic
NM_000191.3(HMGCL):c.137dup (p.Asn46fs) duplication Deficiency of hydroxymethylglutaryl-CoA lyase [RCV001058263] Chr1:23820516..23820517 [GRCh38]
Chr1:24147006..24147007 [GRCh37]
Chr1:1p36.11
likely pathogenic
NM_000191.3(HMGCL):c.614C>G (p.Thr205Ser) single nucleotide variant Deficiency of hydroxymethylglutaryl-CoA lyase [RCV001202170] Chr1:23808271 [GRCh38]
Chr1:24134761 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_000191.3(HMGCL):c.340G>A (p.Glu114Lys) single nucleotide variant Deficiency of hydroxymethylglutaryl-CoA lyase [RCV001100561] Chr1:23816683 [GRCh38]
Chr1:24143173 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_000191.3(HMGCL):c.*366G>A single nucleotide variant Deficiency of hydroxymethylglutaryl-CoA lyase [RCV001102408] Chr1:23802097 [GRCh38]
Chr1:24128587 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_000191.3(HMGCL):c.*338G>C single nucleotide variant Deficiency of hydroxymethylglutaryl-CoA lyase [RCV001102409] Chr1:23802125 [GRCh38]
Chr1:24128615 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_000191.3(HMGCL):c.409A>G (p.Lys137Glu) single nucleotide variant Deficiency of hydroxymethylglutaryl-CoA lyase [RCV001228355] Chr1:23814278 [GRCh38]
Chr1:24140768 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_000191.3(HMGCL):c.8C>T (p.Ala3Val) single nucleotide variant Deficiency of hydroxymethylglutaryl-CoA lyase [RCV001332265] Chr1:23825408 [GRCh38]
Chr1:24151898 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_000191.3(HMGCL):c.718C>T (p.Gln240Ter) single nucleotide variant Deficiency of hydroxymethylglutaryl-CoA lyase [RCV001264183] Chr1:23808167 [GRCh38]
Chr1:24134657 [GRCh37]
Chr1:1p36.11
likely pathogenic
NM_000191.3(HMGCL):c.714T>G (p.Tyr238Ter) single nucleotide variant Deficiency of hydroxymethylglutaryl-CoA lyase [RCV001264184] Chr1:23808171 [GRCh38]
Chr1:24134661 [GRCh37]
Chr1:1p36.11
likely pathogenic
NM_000191.3(HMGCL):c.594C>G (p.Tyr198Ter) single nucleotide variant Deficiency of hydroxymethylglutaryl-CoA lyase [RCV001264185] Chr1:23808291 [GRCh38]
Chr1:24134781 [GRCh37]
Chr1:1p36.11
likely pathogenic
NM_000191.3(HMGCL):c.331A>T (p.Lys111Ter) single nucleotide variant Deficiency of hydroxymethylglutaryl-CoA lyase [RCV001264186] Chr1:23816692 [GRCh38]
Chr1:24143182 [GRCh37]
Chr1:1p36.11
likely pathogenic
NM_000191.3(HMGCL):c.275T>A (p.Leu92Ter) single nucleotide variant Deficiency of hydroxymethylglutaryl-CoA lyase [RCV001264187] Chr1:23816748 [GRCh38]
Chr1:24143238 [GRCh37]
Chr1:1p36.11
likely pathogenic
NM_000191.3(HMGCL):c.76A>G (p.Met26Val) single nucleotide variant Deficiency of hydroxymethylglutaryl-CoA lyase [RCV001280069] Chr1:23820578 [GRCh38]
Chr1:24147068 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_000191.3(HMGCL):c.865_866del (p.Gly289fs) deletion Deficiency of hydroxymethylglutaryl-CoA lyase [RCV001334301] Chr1:23804410..23804411 [GRCh38]
Chr1:24130900..24130901 [GRCh37]
Chr1:1p36.11
pathogenic
NM_000191.3(HMGCL):c.704A>G (p.His235Arg) single nucleotide variant Deficiency of hydroxymethylglutaryl-CoA lyase [RCV001280065] Chr1:23808181 [GRCh38]
Chr1:24134671 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_000191.3(HMGCL):c.437G>A (p.Ser146Asn) single nucleotide variant Deficiency of hydroxymethylglutaryl-CoA lyase [RCV001332264] Chr1:23814250 [GRCh38]
Chr1:24140740 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_000191.3(HMGCL):c.950A>G (p.Lys317Arg) single nucleotide variant Deficiency of hydroxymethylglutaryl-CoA lyase [RCV001280063] Chr1:23802491 [GRCh38]
Chr1:24128981 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_000191.3(HMGCL):c.404C>T (p.Thr135Ile) single nucleotide variant Deficiency of hydroxymethylglutaryl-CoA lyase [RCV001280067] Chr1:23814283 [GRCh38]
Chr1:24140773 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_000191.3(HMGCL):c.76A>T (p.Met26Leu) single nucleotide variant Deficiency of hydroxymethylglutaryl-CoA lyase [RCV001344274] Chr1:23820578 [GRCh38]
Chr1:24147068 [GRCh37]
Chr1:1p36.11
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:5005 AgrOrtholog
COSMIC HMGCL COSMIC
Ensembl Genes ENSG00000117305 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000235958 UniProtKB/TrEMBL
  ENSP00000363614 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000389281 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000235958 UniProtKB/TrEMBL
  ENST00000374490 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000436439 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 3.20.20.70 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000117305 GTEx
HGNC ID HGNC:5005 ENTREZGENE
Human Proteome Map HMGCL Human Proteome Map
InterPro Aldolase_TIM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HMG_CoA_lyase_AS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HMGL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PYR_CT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:3155 UniProtKB/Swiss-Prot
NCBI Gene 3155 ENTREZGENE
OMIM 246450 OMIM
  613898 OMIM
PANTHER PTHR42738 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam HMGL-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA29336 PharmGKB
PROSITE HMG_COA_LYASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PYR_CT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B1AK13_HUMAN UniProtKB/TrEMBL
  G8FGB4_HUMAN UniProtKB/TrEMBL
  H0Y2L7_HUMAN UniProtKB/TrEMBL
  HMGCL_HUMAN UniProtKB/Swiss-Prot
  L8EC54_HUMAN UniProtKB/TrEMBL
  P35914 ENTREZGENE
UniProt Secondary A6NMQ0 UniProtKB/TrEMBL
  B4DUP4 UniProtKB/Swiss-Prot
  B7UCC6 UniProtKB/Swiss-Prot
  D3Y5K7 UniProtKB/Swiss-Prot
  Q6IBC0 UniProtKB/Swiss-Prot
  Q96FP8 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2018-06-05 HMGCL  3-hydroxy-3-methylglutaryl-CoA lyase    3-hydroxymethyl-3-methylglutaryl-CoA lyase  Symbol and/or name change 5135510 APPROVED
2011-08-16 HMGCL  3-hydroxymethyl-3-methylglutaryl-CoA lyase  HMGCL  3-hydroxymethyl-3-methylglutaryl-CoA lyase  Symbol and/or name change 5135510 APPROVED
2011-07-27 HMGCL  3-hydroxymethyl-3-methylglutaryl-CoA lyase  HMGCL  3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase  Symbol and/or name change 5135510 APPROVED