GCDH (glutaryl-CoA dehydrogenase) - Rat Genome Database
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Gene: GCDH (glutaryl-CoA dehydrogenase) Homo sapiens
Analyze
Symbol: GCDH
Name: glutaryl-CoA dehydrogenase
RGD ID: 1318826
HGNC Page HGNC
Description: Predicted to have fatty-acyl-CoA binding activity; flavin adenine dinucleotide binding activity; and glutaryl-CoA dehydrogenase activity. Involved in fatty acid beta-oxidation using acyl-CoA dehydrogenase. Localizes to mitochondrion. Implicated in glutaric acidemia I.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: ACAD5; GCD; glutaryl-CoA dehydrogenase, mitochondrial; glutaryl-Coenzyme A dehydrogenase; truncated GCDH; truncated glutaryl-CoA dehydrogenase
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: LOC644203  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1912,891,160 - 12,914,207 (+)EnsemblGRCh38hg38GRCh38
GRCh381912,891,129 - 12,899,999 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371913,001,943 - 13,010,813 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361912,862,974 - 12,871,783 (+)NCBINCBI36hg18NCBI36
Build 341912,862,973 - 12,871,782NCBI
Celera1912,891,682 - 12,900,491 (+)NCBI
Cytogenetic Map19p13.13NCBI
HuRef1912,573,809 - 12,582,680 (+)NCBIHuRef
CHM1_11913,002,442 - 13,011,310 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal caudate nucleus morphology  (IAGP)
Abnormal enzyme/coenzyme activity  (IAGP)
Abnormal putamen morphology  (IAGP)
Abnormality of the cerebral white matter  (IAGP)
Abnormality of the respiratory system  (IAGP)
Ataxia  (IAGP)
Athetosis  (IAGP)
Autosomal recessive inheritance  (IAGP)
Chorea  (IAGP)
Choreoathetosis  (IAGP)
Chronic kidney disease  (IAGP)
Communicating hydrocephalus  (IAGP)
Delayed myelination  (IAGP)
Dementia  (IAGP)
Developmental regression  (IAGP)
Dilation of lateral ventricles  (IAGP)
Dysarthria  (IAGP)
Dysphagia  (IAGP)
Dystonia  (IAGP)
Elevated circulating glutaric acid concentration  (IAGP)
Exercise intolerance  (IAGP)
Failure to thrive  (IAGP)
Fasting hypoglycemia  (IAGP)
Feeding difficulties  (IAGP)
Generalized hypotonia  (IAGP)
Glutaric aciduria  (IAGP)
Headache  (IAGP)
Hepatomegaly  (IAGP)
Hyperketonemia  (IAGP)
Hypoglycemia  (IAGP)
Infantile encephalopathy  (IAGP)
Infantile spasms  (IAGP)
Joint dislocation  (IAGP)
Ketonuria  (IAGP)
Limb dystonia  (IAGP)
Loss of consciousness  (IAGP)
Macrocephaly  (IAGP)
Metabolic acidosis  (IAGP)
Muscular hypotonia  (IAGP)
Open operculum  (IAGP)
Opisthotonus  (IAGP)
Pallidal degeneration  (IAGP)
Peripheral neuropathy  (IAGP)
Poor motor coordination  (IAGP)
Progressive macrocephaly  (IAGP)
Retinal hemorrhage  (IAGP)
Rigidity  (IAGP)
Seizure  (IAGP)
Severe muscular hypotonia  (IAGP)
Spastic diplegia  (IAGP)
Subdural hemorrhage  (IAGP)
Subependymal nodules  (IAGP)
Symmetrical progressive peripheral demyelination  (IAGP)
T2 hypointense basal ganglia  (IAGP)
Tremor  (IAGP)
Ventriculomegaly  (IAGP)
Vertigo  (IAGP)
Widened subarachnoid space  (IAGP)
References

Additional References at PubMed
PMID:1438360   PMID:3081514   PMID:7490088   PMID:7795610   PMID:8088809   PMID:8541831   PMID:8900227   PMID:8900228   PMID:9600243   PMID:9711871   PMID:10699052   PMID:10960496  
PMID:10985795   PMID:11705404   PMID:12477932   PMID:15057824   PMID:15274622   PMID:15489334   PMID:15985591   PMID:16341674   PMID:16344560   PMID:16368216   PMID:17176108   PMID:17314511  
PMID:17474147   PMID:17661081   PMID:18775954   PMID:19862010   PMID:19913121   PMID:20032085   PMID:20301334   PMID:20514322   PMID:20628086   PMID:20732827   PMID:20877624   PMID:21163940  
PMID:21811973   PMID:21873635   PMID:21912879   PMID:21944461   PMID:21968293   PMID:22231382   PMID:22268729   PMID:23225040   PMID:23395213   PMID:23798571   PMID:24332224   PMID:24816252  
PMID:24973495   PMID:25187353   PMID:25297592   PMID:25416781   PMID:25863083   PMID:26058080   PMID:26071121   PMID:26186194   PMID:26389662   PMID:26496610   PMID:26618866   PMID:26972000  
PMID:27397597   PMID:28062662   PMID:28378594   PMID:28380382   PMID:28389991   PMID:28514442   PMID:29053956   PMID:29419857   PMID:29509794   PMID:29802200   PMID:30203563   PMID:30463901  
PMID:30512148   PMID:30833792   PMID:30940648   PMID:31056398   PMID:31073040   PMID:31491587   PMID:31515781   PMID:31536184   PMID:31617661   PMID:31753913   PMID:32877691  


Genomics

Comparative Map Data
GCDH
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1912,891,160 - 12,914,207 (+)EnsemblGRCh38hg38GRCh38
GRCh381912,891,129 - 12,899,999 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371913,001,943 - 13,010,813 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361912,862,974 - 12,871,783 (+)NCBINCBI36hg18NCBI36
Build 341912,862,973 - 12,871,782NCBI
Celera1912,891,682 - 12,900,491 (+)NCBI
Cytogenetic Map19p13.13NCBI
HuRef1912,573,809 - 12,582,680 (+)NCBIHuRef
CHM1_11913,002,442 - 13,011,310 (+)NCBICHM1_1
Gcdh
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39885,613,016 - 85,629,378 (-)NCBIGRCm39mm39
GRCm38884,886,387 - 84,893,921 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl884,886,393 - 84,893,921 (-)EnsemblGRCm38mm10GRCm38
MGSCv37887,410,286 - 87,417,820 (-)NCBIGRCm37mm9NCBIm37
MGSCv36887,776,696 - 87,783,807 (-)NCBImm8
Celera889,185,944 - 89,193,269 (-)NCBICelera
Cytogenetic Map8C3NCBI
cM Map841.28NCBI
Gcdh
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rnor_6.01926,000,497 - 26,006,970 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1926,000,497 - 26,006,970 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01936,976,120 - 36,982,606 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41924,919,470 - 24,925,943 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11924,924,493 - 24,930,910 (+)NCBI
Celera1922,820,112 - 22,826,585 (+)NCBICelera
Cytogenetic Map19q11NCBI
Gcdh
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541531,952,580 - 31,961,615 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541531,952,400 - 31,958,067 (+)NCBIChiLan1.0ChiLan1.0
GCDH
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11913,195,241 - 13,204,253 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1913,195,241 - 13,204,223 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01912,452,779 - 12,461,757 (+)NCBIMhudiblu_PPA_v0panPan3
GCDH
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl2049,284,425 - 49,290,849 (-)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.12049,284,341 - 49,290,456 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Gcdh
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_0049366591,955,601 - 1,961,925 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GCDH
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl266,130,625 - 66,138,868 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1266,131,154 - 66,138,963 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2266,461,407 - 66,466,086 (+)NCBISscrofa10.2Sscrofa10.2susScr3
GCDH
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1611,572,512 - 11,588,108 (+)NCBI
ChlSab1.1 Ensembl611,572,540 - 11,588,224 (+)Ensembl
Gcdh
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624901474,836 - 479,674 (+)NCBI

Position Markers
G49216  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371913,001,400 - 13,001,528UniSTSGRCh37
Build 361912,862,400 - 12,862,528RGDNCBI36
Celera1912,891,108 - 12,891,236RGD
Cytogenetic Map19p13.2UniSTS
HuRef1912,573,266 - 12,573,394UniSTS
GDB:362952  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371913,002,095 - 13,002,782UniSTSGRCh37
Build 361912,863,095 - 12,863,782RGDNCBI36
Celera1912,891,803 - 12,892,490RGD
Cytogenetic Map19p13.2UniSTS
HuRef1912,573,961 - 12,574,648UniSTS
GDB:568782  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371913,002,095 - 13,002,335UniSTSGRCh37
Build 361912,863,095 - 12,863,335RGDNCBI36
Celera1912,891,803 - 12,892,043RGD
Cytogenetic Map19p13.2UniSTS
HuRef1912,573,961 - 12,574,201UniSTS
RH17829  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371913,010,319 - 13,010,525UniSTSGRCh37
Build 361912,871,319 - 12,871,525RGDNCBI36
Celera1912,900,027 - 12,900,233RGD
Cytogenetic Map19p13.2UniSTS
HuRef1912,582,186 - 12,582,392UniSTS
GeneMap99-GB4 RH Map1971.17UniSTS
RH44737  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371913,010,536 - 13,010,637UniSTSGRCh37
Build 361912,871,536 - 12,871,637RGDNCBI36
Celera1912,900,244 - 12,900,345RGD
Cytogenetic Map19p13.2UniSTS
HuRef1912,582,403 - 12,582,504UniSTS
GeneMap99-GB4 RH Map1973.59UniSTS
D19S1133  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371913,010,598 - 13,010,731UniSTSGRCh37
Build 361912,871,598 - 12,871,731RGDNCBI36
Celera1912,900,306 - 12,900,439RGD
Cytogenetic Map19p13.2UniSTS
HuRef1912,582,465 - 12,582,598UniSTS
SHGC-24430  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371913,010,315 - 13,010,443UniSTSGRCh37
Build 361912,871,315 - 12,871,443RGDNCBI36
Celera1912,900,023 - 12,900,151RGD
Cytogenetic Map19p13.2UniSTS
HuRef1912,582,182 - 12,582,310UniSTS
Stanford-G3 RH Map19343.0UniSTS
GeneMap99-G3 RH Map19343.0UniSTS
WI-17002  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371913,010,639 - 13,010,748UniSTSGRCh37
Build 361912,871,639 - 12,871,748RGDNCBI36
Celera1912,900,347 - 12,900,456RGD
Cytogenetic Map19p13.2UniSTS
HuRef1912,582,506 - 12,582,615UniSTS
GeneMap99-GB4 RH Map1973.08UniSTS
Whitehead-RH Map1962.9UniSTS
NCBI RH Map1987.9UniSTS
GDB:568779  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map19p13.2UniSTS
RH99313  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371913,010,100 - 13,010,907UniSTSGRCh37
Celera1912,899,808 - 12,900,615UniSTS
Cytogenetic Map19p13.2UniSTS
HuRef1912,581,967 - 12,582,774UniSTS
GeneMap99-GB4 RH Map1971.17UniSTS
GDB:568756  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map19p13.2UniSTS
GDB:568776  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map19p13.2UniSTS
HuRef1912,578,785 - 12,580,046UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3905
Count of miRNA genes:1042
Interacting mature miRNAs:1294
Transcripts:ENST00000222214, ENST00000421816, ENST00000422947, ENST00000457854, ENST00000585420, ENST00000585760, ENST00000587072, ENST00000587832, ENST00000588242, ENST00000588905, ENST00000589039, ENST00000590445, ENST00000590472, ENST00000590530, ENST00000590627, ENST00000591043, ENST00000591050, ENST00000591470
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 1947 1778 1631 588 1222 448 3270 1602 2332 298 1037 1373 155 927 2119 1 2
Low 492 1210 95 36 729 17 1087 592 1402 121 423 240 20 1 277 669 5
Below cutoff 3 3

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_009292 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000159 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_013976 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_102316 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_102317 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC092069 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AD000092 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH006713 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK098370 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290407 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296446 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298772 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300841 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309892 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AU135567 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC002579 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM855466 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT006706 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471106 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA286320 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JN005920 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KR674114 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT996148 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU297254 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU297255 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU297256 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU297257 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU297258 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU297259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU297260 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU297261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU297262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU297263 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU297264 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU297265 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU297266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU297267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU297268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU297269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU297270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU612120 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU641459 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY419897 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY419898 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY419899 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY419900 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY419901 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY419902 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY419903 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY419904 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY419905 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY419906 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY419907 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY419908 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY419909 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY419910 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY419911 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY419912 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY419913 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S77773 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U69141 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000222214   ⟹   ENSP00000222214
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1912,891,160 - 12,899,999 (+)Ensembl
RefSeq Acc Id: ENST00000421816
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1912,891,160 - 12,897,477 (+)Ensembl
RefSeq Acc Id: ENST00000585420
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1912,891,180 - 12,899,624 (+)Ensembl
RefSeq Acc Id: ENST00000585760
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1912,891,269 - 12,892,283 (+)Ensembl
RefSeq Acc Id: ENST00000587072   ⟹   ENSP00000468584
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1912,891,177 - 12,893,493 (+)Ensembl
RefSeq Acc Id: ENST00000587832
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1912,891,180 - 12,893,882 (+)Ensembl
RefSeq Acc Id: ENST00000588242
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1912,899,571 - 12,900,670 (+)Ensembl
RefSeq Acc Id: ENST00000588905   ⟹   ENSP00000465770
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1912,891,168 - 12,896,015 (+)Ensembl
RefSeq Acc Id: ENST00000589039   ⟹   ENSP00000465618
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1912,891,160 - 12,895,995 (+)Ensembl
RefSeq Acc Id: ENST00000590445   ⟹   ENSP00000468125
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1912,891,164 - 12,892,129 (+)Ensembl
RefSeq Acc Id: ENST00000590472   ⟹   ENSP00000468625
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1912,897,303 - 12,898,383 (+)Ensembl
RefSeq Acc Id: ENST00000590530   ⟹   ENSP00000468452
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1912,891,166 - 12,899,969 (+)Ensembl
RefSeq Acc Id: ENST00000590627
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1912,891,180 - 12,893,834 (+)Ensembl
RefSeq Acc Id: ENST00000591043
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1912,891,269 - 12,899,678 (+)Ensembl
RefSeq Acc Id: ENST00000591050   ⟹   ENSP00000467735
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1912,897,380 - 12,914,207 (+)Ensembl
RefSeq Acc Id: ENST00000591470   ⟹   ENSP00000466845
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1912,891,160 - 12,899,946 (+)Ensembl
RefSeq Acc Id: NM_000159   ⟹   NP_000150
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381912,891,160 - 12,899,999 (+)NCBI
GRCh371913,001,943 - 13,010,813 (+)NCBI
Build 361912,862,974 - 12,871,783 (+)NCBI Archive
HuRef1912,573,809 - 12,582,680 (+)NCBI
CHM1_11913,002,442 - 13,011,310 (+)NCBI
Sequence:
RefSeq Acc Id: NM_013976   ⟹   NP_039663
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381912,891,160 - 12,899,969 (+)NCBI
GRCh371913,001,943 - 13,010,813 (+)NCBI
Build 361912,862,974 - 12,871,783 (+)NCBI Archive
HuRef1912,573,809 - 12,582,680 (+)NCBI
CHM1_11913,002,442 - 13,011,310 (+)NCBI
Sequence:
RefSeq Acc Id: NR_102316
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381912,891,129 - 12,899,999 (+)NCBI
GRCh371913,001,943 - 13,010,813 (+)NCBI
HuRef1912,573,809 - 12,582,680 (+)NCBI
CHM1_11913,002,442 - 13,011,310 (+)NCBI
Sequence:
RefSeq Acc Id: NR_102317
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381912,891,129 - 12,899,999 (+)NCBI
HuRef1912,573,809 - 12,582,680 (+)NCBI
CHM1_11913,002,442 - 13,011,310 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_000150 (Get FASTA)   NCBI Sequence Viewer  
  NP_039663 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAB08455 (Get FASTA)   NCBI Sequence Viewer  
  AAB34724 (Get FASTA)   NCBI Sequence Viewer  
  AAB51174 (Get FASTA)   NCBI Sequence Viewer  
  AAC52079 (Get FASTA)   NCBI Sequence Viewer  
  AAH02579 (Get FASTA)   NCBI Sequence Viewer  
  AAP35352 (Get FASTA)   NCBI Sequence Viewer  
  AER00473 (Get FASTA)   NCBI Sequence Viewer  
  ALL29309 (Get FASTA)   NCBI Sequence Viewer  
  APD78561 (Get FASTA)   NCBI Sequence Viewer  
  APD78590 (Get FASTA)   NCBI Sequence Viewer  
  APD78591 (Get FASTA)   NCBI Sequence Viewer  
  APD78592 (Get FASTA)   NCBI Sequence Viewer  
  APD78593 (Get FASTA)   NCBI Sequence Viewer  
  APD78594 (Get FASTA)   NCBI Sequence Viewer  
  APD78595 (Get FASTA)   NCBI Sequence Viewer  
  APD78596 (Get FASTA)   NCBI Sequence Viewer  
  APD78597 (Get FASTA)   NCBI Sequence Viewer  
  APD78598 (Get FASTA)   NCBI Sequence Viewer  
  APD78599 (Get FASTA)   NCBI Sequence Viewer  
  APD78600 (Get FASTA)   NCBI Sequence Viewer  
  APD78601 (Get FASTA)   NCBI Sequence Viewer  
  APD78602 (Get FASTA)   NCBI Sequence Viewer  
  APD78603 (Get FASTA)   NCBI Sequence Viewer  
  APD78604 (Get FASTA)   NCBI Sequence Viewer  
  APD78605 (Get FASTA)   NCBI Sequence Viewer  
  APD78606 (Get FASTA)   NCBI Sequence Viewer  
  APF46974 (Get FASTA)   NCBI Sequence Viewer  
  APF46975 (Get FASTA)   NCBI Sequence Viewer  
  AVG45452 (Get FASTA)   NCBI Sequence Viewer  
  AVG45453 (Get FASTA)   NCBI Sequence Viewer  
  AVG45454 (Get FASTA)   NCBI Sequence Viewer  
  AVG45455 (Get FASTA)   NCBI Sequence Viewer  
  AVG45456 (Get FASTA)   NCBI Sequence Viewer  
  AVG45457 (Get FASTA)   NCBI Sequence Viewer  
  AVG45458 (Get FASTA)   NCBI Sequence Viewer  
  AVG45459 (Get FASTA)   NCBI Sequence Viewer  
  AVG45460 (Get FASTA)   NCBI Sequence Viewer  
  AVG45461 (Get FASTA)   NCBI Sequence Viewer  
  AVG45462 (Get FASTA)   NCBI Sequence Viewer  
  AVG45463 (Get FASTA)   NCBI Sequence Viewer  
  AVG45464 (Get FASTA)   NCBI Sequence Viewer  
  AVG45465 (Get FASTA)   NCBI Sequence Viewer  
  AVG45466 (Get FASTA)   NCBI Sequence Viewer  
  AVG45467 (Get FASTA)   NCBI Sequence Viewer  
  AVG45468 (Get FASTA)   NCBI Sequence Viewer  
  BAF83096 (Get FASTA)   NCBI Sequence Viewer  
  BAG59097 (Get FASTA)   NCBI Sequence Viewer  
  BAG60914 (Get FASTA)   NCBI Sequence Viewer  
  BAG62492 (Get FASTA)   NCBI Sequence Viewer  
  EAW84324 (Get FASTA)   NCBI Sequence Viewer  
  EAW84325 (Get FASTA)   NCBI Sequence Viewer  
  EAW84326 (Get FASTA)   NCBI Sequence Viewer  
  Q92947 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_000150   ⟸   NM_000159
- Peptide Label: isoform a precursor
- UniProtKB: Q92947 (UniProtKB/Swiss-Prot),   A0A024R7F9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_039663   ⟸   NM_013976
- Peptide Label: isoform b precursor
- UniProtKB: Q92947 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000468584   ⟸   ENST00000587072
RefSeq Acc Id: ENSP00000465770   ⟸   ENST00000588905
RefSeq Acc Id: ENSP00000465618   ⟸   ENST00000589039
RefSeq Acc Id: ENSP00000222214   ⟸   ENST00000222214
RefSeq Acc Id: ENSP00000468452   ⟸   ENST00000590530
RefSeq Acc Id: ENSP00000468125   ⟸   ENST00000590445
RefSeq Acc Id: ENSP00000468625   ⟸   ENST00000590472
RefSeq Acc Id: ENSP00000466845   ⟸   ENST00000591470
RefSeq Acc Id: ENSP00000467735   ⟸   ENST00000591050
Protein Domains
Acyl-CoA_dh_1   Acyl-CoA_dh_M   Acyl-CoA_dh_N

Promoters
RGD ID:6795592
Promoter ID:HG_KWN:29038
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_000159,   NM_013976
Position:
Human AssemblyChrPosition (strand)Source
Build 361912,862,431 - 12,863,087 (+)MPROMDB
RGD ID:7238747
Promoter ID:EPDNEW_H25119
Type:initiation region
Name:GCDH_1
Description:glutaryl-CoA dehydrogenase
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
GRCh381912,891,160 - 12,891,220EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000159.4(GCDH):c.91+5G>T single nucleotide variant Glutaric aciduria, type 1 [RCV000002168] Chr19:12891400 [GRCh38]
Chr19:13002214 [GRCh37]
Chr19:19p13.13
pathogenic
NM_000159.4(GCDH):c.550A>G (p.Ser184Gly) single nucleotide variant Glutaric aciduria, type 1 [RCV000655936] Chr19:12896036 [GRCh38]
Chr19:13006850 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_000159.4(GCDH):c.451C>T (p.Pro151Ser) single nucleotide variant not provided [RCV000722880] Chr19:12893599 [GRCh38]
Chr19:13004413 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_000159.4(GCDH):c.893C>T (p.Ala298Val) single nucleotide variant Glutaric aciduria, type 1 [RCV000550415] Chr19:12896950 [GRCh38]
Chr19:13007764 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_000159.4(GCDH):c.829C>T (p.Leu277Phe) single nucleotide variant Glutaric aciduria, type 1 [RCV000545566] Chr19:12896398 [GRCh38]
Chr19:13007212 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_000159.4(GCDH):c.883T>C (p.Tyr295His) single nucleotide variant Glutaric aciduria, type 1 [RCV000002162]|not provided [RCV000724276] Chr19:12896940 [GRCh38]
Chr19:13007754 [GRCh37]
Chr19:19p13.13
pathogenic
NM_000159.4(GCDH):c.1262C>T (p.Ala421Val) single nucleotide variant Glutaric aciduria, type 1 [RCV000002163]|not provided [RCV000224804] Chr19:12899486 [GRCh38]
Chr19:13010300 [GRCh37]
Chr19:19p13.13
pathogenic
NM_000159.4(GCDH):c.877G>A (p.Ala293Thr) single nucleotide variant Glutaric aciduria, type 1 [RCV000002164]|not provided [RCV000790796] Chr19:12896934 [GRCh38]
Chr19:13007748 [GRCh37]
Chr19:19p13.13
pathogenic|conflicting interpretations of pathogenicity
NM_000159.4(GCDH):c.1247C>T (p.Thr416Ile) single nucleotide variant Glutaric aciduria, type 1 [RCV000002165] Chr19:12899471 [GRCh38]
Chr19:13010285 [GRCh37]
Chr19:19p13.13
pathogenic
NM_000159.4(GCDH):c.1204C>T (p.Arg402Trp) single nucleotide variant Glutaric aciduria, type 1 [RCV000002166]|not provided [RCV000255833] Chr19:12897824 [GRCh38]
Chr19:13008638 [GRCh37]
Chr19:19p13.13
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000159.4(GCDH):c.1093G>A (p.Glu365Lys) single nucleotide variant Glutaric aciduria, type 1 [RCV000002167]|not provided [RCV000224528] Chr19:12897713 [GRCh38]
Chr19:13008527 [GRCh37]
Chr19:19p13.13
pathogenic|likely pathogenic
NM_000159.4(GCDH):c.1198G>A (p.Val400Met) single nucleotide variant Glutaric aciduria, type 1 [RCV000002169]|not provided [RCV000224327] Chr19:12897818 [GRCh38]
Chr19:13008632 [GRCh37]
Chr19:19p13.13
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000159.4(GCDH):c.680G>C (p.Arg227Pro) single nucleotide variant Glutaric aciduria, type 1 [RCV000002170]|not provided [RCV000078256] Chr19:12896249 [GRCh38]
Chr19:13007063 [GRCh37]
Chr19:19p13.13
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 19p13.2-13.13(chr19:8831147-13331227)x3 copy number gain See cases [RCV000052908] Chr19:8831147..13331227 [GRCh38]
Chr19:8941823..13442041 [GRCh37]
Chr19:8802823..13303041 [NCBI36]
Chr19:19p13.2-13.13
likely pathogenic
GRCh38/hg38 19p13.2-13.12(chr19:10315258-14048994)x3 copy number gain See cases [RCV000052909] Chr19:10315258..14048994 [GRCh38]
Chr19:10425934..14159806 [GRCh37]
Chr19:10286934..14020806 [NCBI36]
Chr19:19p13.2-13.12
pathogenic
GRCh38/hg38 19p13.2-13.12(chr19:12132052-14751798)x3 copy number gain See cases [RCV000052910] Chr19:12132052..14751798 [GRCh38]
Chr19:12242867..14862610 [GRCh37]
Chr19:12103867..14723610 [NCBI36]
Chr19:19p13.2-13.12
pathogenic
GRCh38/hg38 19p13.13(chr19:12850595-13290954)x3 copy number gain See cases [RCV000052911] Chr19:12850595..13290954 [GRCh38]
Chr19:12961409..13401768 [GRCh37]
Chr19:12822409..13262768 [NCBI36]
Chr19:19p13.13
pathogenic
GRCh38/hg38 19p13.13(chr19:12813597-13119698)x3 copy number gain See cases [RCV000054144] Chr19:12813597..13119698 [GRCh38]
Chr19:12924411..13230512 [GRCh37]
Chr19:12785411..13091512 [NCBI36]
Chr19:19p13.13
uncertain significance
GRCh38/hg38 19p13.2-13.12(chr19:11227942-14532135)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053944]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053944]|See cases [RCV000053944] Chr19:11227942..14532135 [GRCh38]
Chr19:11338618..14642947 [GRCh37]
Chr19:11199618..14503947 [NCBI36]
Chr19:19p13.2-13.12
pathogenic
GRCh38/hg38 19p13.2-13.13(chr19:11517825-13225287)x1 copy number loss See cases [RCV000053945] Chr19:11517825..13225287 [GRCh38]
Chr19:11628640..13336101 [GRCh37]
Chr19:11489640..13197101 [NCBI36]
Chr19:19p13.2-13.13
pathogenic
NM_000159.4(GCDH):c.1120A>G (p.Asn374Asp) single nucleotide variant not provided [RCV000078247] Chr19:12897740 [GRCh38]
Chr19:13008554 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_000159.4(GCDH):c.1157G>C (p.Arg386Pro) single nucleotide variant Glutaric aciduria, type 1 [RCV000812634]|not provided [RCV000078248] Chr19:12897777 [GRCh38]
Chr19:13008591 [GRCh37]
Chr19:19p13.13
likely pathogenic|uncertain significance
NM_000159.4(GCDH):c.1167G>A (p.Leu389=) single nucleotide variant not provided [RCV000723510]|not specified [RCV000244306] Chr19:12897787 [GRCh38]
Chr19:13008601 [GRCh37]
Chr19:19p13.13
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000159.4(GCDH):c.1173G>T (p.Gly391=) single nucleotide variant Glutaric acidemia [RCV000269249]|Glutaric aciduria, type 1 [RCV000610293]|not provided [RCV000676739]|not specified [RCV000078250] Chr19:12897793 [GRCh38]
Chr19:13008607 [GRCh37]
Chr19:19p13.13
benign
NM_000159.4(GCDH):c.278A>G (p.His93Arg) single nucleotide variant not provided [RCV000078251] Chr19:12892122 [GRCh38]
Chr19:13002936 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_000159.4(GCDH):c.428T>C (p.Val143Ala) single nucleotide variant Glutaric aciduria, type 1 [RCV000546348]|not provided [RCV000078252] Chr19:12893576 [GRCh38]
Chr19:13004390 [GRCh37]
Chr19:19p13.13
conflicting interpretations of pathogenicity|uncertain significance
NM_000159.4(GCDH):c.517C>T (p.Leu173Phe) single nucleotide variant not provided [RCV000078253] Chr19:12896003 [GRCh38]
Chr19:13006817 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_000159.4(GCDH):c.542A>G (p.Glu181Gly) single nucleotide variant not provided [RCV000179724] Chr19:12896028 [GRCh38]
Chr19:13006842 [GRCh37]
Chr19:19p13.13
pathogenic
NM_000159.4(GCDH):c.636-1G>A single nucleotide variant Glutaric aciduria, type 1 [RCV000180102]|not provided [RCV000790781] Chr19:12896204 [GRCh38]
Chr19:13007018 [GRCh37]
Chr19:19p13.13
pathogenic|likely pathogenic
NM_000159.4(GCDH):c.1244-2A>C single nucleotide variant Glutaric aciduria, type 1 [RCV000174223]|not provided [RCV000521145] Chr19:12899466 [GRCh38]
Chr19:13010280 [GRCh37]
Chr19:19p13.13
pathogenic
NM_000159.4(GCDH):c.*165A>G single nucleotide variant Glutaric acidemia [RCV000281284]|Glutaric aciduria, type 1 [RCV000190518] Chr19:12899706 [GRCh38]
Chr19:13010520 [GRCh37]
Chr19:19p13.13
likely pathogenic|benign|conflicting interpretations of pathogenicity
NM_000159.4(GCDH):c.*288G>T single nucleotide variant Glutaric acidemia [RCV000336585]|Glutaric aciduria, type 1 [RCV000190519] Chr19:12899829 [GRCh38]
Chr19:13010643 [GRCh37]
Chr19:19p13.13
likely pathogenic|benign
NM_000159.4(GCDH):c.1045G>A (p.Ala349Thr) single nucleotide variant Glutaric aciduria, type 1 [RCV001047255] Chr19:12897391 [GRCh38]
Chr19:13008205 [GRCh37]
Chr19:19p13.13
pathogenic
NM_000159.4(GCDH):c.997C>G (p.Gln333Glu) single nucleotide variant Glutaric aciduria, type 1 [RCV000675103]|not provided [RCV000419557] Chr19:12897343 [GRCh38]
Chr19:13008157 [GRCh37]
Chr19:19p13.13
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000159.4(GCDH):c.1011A>G (p.Ala337=) single nucleotide variant Glutaric aciduria, type 1 [RCV000524841]|not provided [RCV000588520]|not specified [RCV000173651] Chr19:12897357 [GRCh38]
Chr19:13008171 [GRCh37]
Chr19:19p13.13
benign|conflicting interpretations of pathogenicity
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_000159.4(GCDH):c.1213A>G (p.Met405Val) single nucleotide variant Glutaric aciduria, type 1 [RCV000173982]|not provided [RCV000414299] Chr19:12897833 [GRCh38]
Chr19:13008647 [GRCh37]
Chr19:19p13.13
pathogenic
NM_000159.4(GCDH):c.1168G>C (p.Gly390Arg) single nucleotide variant Glutaric aciduria, type 1 [RCV000173983]|not provided [RCV000429838] Chr19:12897788 [GRCh38]
Chr19:13008602 [GRCh37]
Chr19:19p13.13
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000159.4(GCDH):c.885C>T (p.Tyr295=) single nucleotide variant Glutaric aciduria, type 1 [RCV000171559] Chr19:12896942 [GRCh38]
Chr19:13007756 [GRCh37]
Chr19:19p13.13
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000159.4(GCDH):c.856C>T (p.Pro286Ser) single nucleotide variant Glutaric aciduria, type 1 [RCV000171557] Chr19:12896913 [GRCh38]
Chr19:13007727 [GRCh37]
Chr19:19p13.13
likely pathogenic
NM_000159.4(GCDH):c.675G>A (p.Trp225Ter) single nucleotide variant Glutaric aciduria, type 1 [RCV000171558] Chr19:12896244 [GRCh38]
Chr19:13007058 [GRCh37]
Chr19:19p13.13
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
GRCh38/hg38 19p13.2-13.12(chr19:12580427-14742673)x1 copy number loss See cases [RCV000135937] Chr19:12580427..14742673 [GRCh38]
Chr19:12691241..14853485 [GRCh37]
Chr19:12552241..14714485 [NCBI36]
Chr19:19p13.2-13.12
pathogenic|likely pathogenic
GRCh38/hg38 19p13.2-13.12(chr19:11525163-14155021)x1 copy number loss See cases [RCV000136909] Chr19:11525163..14155021 [GRCh38]
Chr19:11635978..14265833 [GRCh37]
Chr19:11496978..14126833 [NCBI36]
Chr19:19p13.2-13.12
pathogenic
GRCh38/hg38 19p13.2-13.13(chr19:10319474-13777860)x1 copy number loss See cases [RCV000141568] Chr19:10319474..13777860 [GRCh38]
Chr19:10430150..13888674 [GRCh37]
Chr19:10291150..13749674 [NCBI36]
Chr19:19p13.2-13.13
pathogenic
NM_000159.4(GCDH):c.1240G>A (p.Glu414Lys) single nucleotide variant Glutaric aciduria, type 1 [RCV000173984]|not provided [RCV000790682] Chr19:12897860 [GRCh38]
Chr19:13008674 [GRCh37]
Chr19:19p13.13
pathogenic
NM_000159.4(GCDH):c.482G>A (p.Arg161Gln) single nucleotide variant Glutaric aciduria, type 1 [RCV000169118]|not provided [RCV000725818] Chr19:12893630 [GRCh38]
Chr19:13004444 [GRCh37]
Chr19:19p13.13
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000159.4(GCDH):c.1147C>T (p.Arg383Cys) single nucleotide variant Glutaric aciduria, type 1 [RCV000169204] Chr19:12897767 [GRCh38]
Chr19:13008581 [GRCh37]
Chr19:19p13.13
likely pathogenic
NM_000159.4(GCDH):c.769C>T (p.Arg257Trp) single nucleotide variant Glutaric aciduria, type 1 [RCV000169226]|not provided [RCV000480428] Chr19:12896338 [GRCh38]
Chr19:13007152 [GRCh37]
Chr19:19p13.13
pathogenic|likely pathogenic
NM_000159.4(GCDH):c.416C>T (p.Ser139Leu) single nucleotide variant Glutaric aciduria, type 1 [RCV000169288]|not provided [RCV000254928] Chr19:12893564 [GRCh38]
Chr19:13004378 [GRCh37]
Chr19:19p13.13
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000159.4(GCDH):c.1060G>A (p.Gly354Ser) single nucleotide variant Glutaric aciduria, type 1 [RCV000169320] Chr19:12897406 [GRCh38]
Chr19:13008220 [GRCh37]
Chr19:19p13.13
pathogenic|likely pathogenic
NM_000159.4(GCDH):c.1205G>A (p.Arg402Gln) single nucleotide variant Glutaric aciduria, type 1 [RCV000169398] Chr19:12897825 [GRCh38]
Chr19:13008639 [GRCh37]
Chr19:19p13.13
pathogenic|likely pathogenic
NM_000159.4(GCDH):c.533G>A (p.Gly178Glu) single nucleotide variant Glutaric aciduria, type 1 [RCV000169399] Chr19:12896019 [GRCh38]
Chr19:13006833 [GRCh37]
Chr19:19p13.13
pathogenic|likely pathogenic
NM_000159.4(GCDH):c.271+1G>A single nucleotide variant Glutaric aciduria, type 1 [RCV000169420]|not provided [RCV000727581] Chr19:12891975 [GRCh38]
Chr19:13002789 [GRCh37]
Chr19:19p13.13
pathogenic|likely pathogenic
NM_000159.4(GCDH):c.383G>A (p.Arg128Gln) single nucleotide variant Glutaric aciduria, type 1 [RCV000169460] Chr19:12893531 [GRCh38]
Chr19:13004345 [GRCh37]
Chr19:19p13.13
pathogenic|likely pathogenic
NM_000159.4(GCDH):c.1239C>A (p.Tyr413Ter) single nucleotide variant Glutaric aciduria, type 1 [RCV000169467] Chr19:12897859 [GRCh38]
Chr19:13008673 [GRCh37]
Chr19:19p13.13
likely pathogenic
NM_000159.4(GCDH):c.262C>T (p.Arg88Cys) single nucleotide variant Glutaric aciduria, type 1 [RCV000169574]|not provided [RCV000255875] Chr19:12891965 [GRCh38]
Chr19:13002779 [GRCh37]
Chr19:19p13.13
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000159.4(GCDH):c.572T>C (p.Met191Thr) single nucleotide variant Glutaric aciduria, type 1 [RCV000179723]|not provided [RCV000724678] Chr19:12896058 [GRCh38]
Chr19:13006872 [GRCh37]
Chr19:19p13.13
pathogenic|likely pathogenic
NM_000159.4(GCDH):c.911C>G (p.Ala304Gly) single nucleotide variant not provided [RCV000180467] Chr19:12896968 [GRCh38]
Chr19:13007782 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_000159.4(GCDH):c.826G>T (p.Val276Leu) single nucleotide variant Glutaric aciduria, type 1 [RCV000211677] Chr19:12896395 [GRCh38]
Chr19:13007209 [GRCh37]
Chr19:19p13.13
pathogenic|uncertain significance
NM_000159.4(GCDH):c.1064G>A (p.Arg355His) single nucleotide variant Glutaric aciduria, type 1 [RCV000551437] Chr19:12897410 [GRCh38]
Chr19:13008224 [GRCh37]
Chr19:19p13.13
pathogenic
NM_000159.4(GCDH):c.*332C>A single nucleotide variant Glutaric aciduria, type 1 [RCV000207373] Chr19:12899873 [GRCh38]
Chr19:13010687 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_000159.4(GCDH):c.795_796insCTATGATCATC (p.Met266delinsLeuTer) insertion Glutaric aciduria, type 1 [RCV000207382] Chr19:12896355..12896356 [GRCh38]
Chr19:13007169..13007170 [GRCh37]
Chr19:19p13.13
pathogenic
NM_000159.4(GCDH):c.*340G>A single nucleotide variant Glutaric aciduria, type 1 [RCV000207400] Chr19:12899881 [GRCh38]
Chr19:13010695 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_000159.4(GCDH):c.1031C>T (p.Thr344Ile) single nucleotide variant Glutaric aciduria, type 1 [RCV000207408] Chr19:12897377 [GRCh38]
Chr19:13008191 [GRCh37]
Chr19:19p13.13
likely pathogenic
NM_000159.4(GCDH):c.852+223C>T single nucleotide variant Glutaric aciduria, type 1 [RCV000207433]|not provided [RCV000828563] Chr19:12896644 [GRCh38]
Chr19:13007458 [GRCh37]
Chr19:19p13.13
likely pathogenic|benign
NM_000159.4(GCDH):c.*331T>C single nucleotide variant Glutaric aciduria, type 1 [RCV000207436] Chr19:12899872 [GRCh38]
Chr19:13010686 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_000159.4(GCDH):c.730G>A (p.Gly244Ser) single nucleotide variant Glutaric aciduria, type 1 [RCV000669231] Chr19:12896299 [GRCh38]
Chr19:13007113 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_000159.4(GCDH):c.272-2A>C single nucleotide variant Glutaric aciduria, type 1 [RCV000668794] Chr19:12892114 [GRCh38]
Chr19:13002928 [GRCh37]
Chr19:19p13.13
likely pathogenic
NM_000159.4(GCDH):c.722G>A (p.Gly241Glu) single nucleotide variant not provided [RCV000224188] Chr19:12896291 [GRCh38]
Chr19:13007105 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_000159.4(GCDH):c.271+3G>A single nucleotide variant Glutaric aciduria, type 1 [RCV001085163]|not provided [RCV000224276] Chr19:12891977 [GRCh38]
Chr19:13002791 [GRCh37]
Chr19:19p13.13
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000159.4(GCDH):c.456C>G (p.Ile152Met) single nucleotide variant Glutaric aciduria, type 1 [RCV000224005] Chr19:12893604 [GRCh38]
Chr19:13004418 [GRCh37]
Chr19:19p13.13
pathogenic
NM_000159.4(GCDH):c.999G>A (p.Gln333=) single nucleotide variant Glutaric aciduria, type 1 [RCV000224048] Chr19:12897345 [GRCh38]
Chr19:13008159 [GRCh37]
Chr19:19p13.13
benign
NM_000159.4(GCDH):c.431A>C (p.Gln144Pro) single nucleotide variant Glutaric aciduria, type 1 [RCV000224360] Chr19:12893579 [GRCh38]
Chr19:13004393 [GRCh37]
Chr19:19p13.13
pathogenic
NM_000159.4(GCDH):c.87G>A (p.Gln29=) single nucleotide variant Glutaric aciduria, type 1 [RCV000224706] Chr19:12891391 [GRCh38]
Chr19:13002205 [GRCh37]
Chr19:19p13.13
benign
NM_000159.4(GCDH):c.1156C>T (p.Arg386Ter) single nucleotide variant Glutaric aciduria, type 1 [RCV000778541]|not provided [RCV000224565] Chr19:12897776 [GRCh38]
Chr19:13008590 [GRCh37]
Chr19:19p13.13
pathogenic
NM_000159.4(GCDH):c.731del (p.Gly244fs) deletion Glutaric aciduria, type 1 [RCV000225074] Chr19:12896297 [GRCh38]
Chr19:13007111 [GRCh37]
Chr19:19p13.13
pathogenic
NM_000159.4(GCDH):c.394C>G (p.Arg132Gly) single nucleotide variant Glutaric aciduria, type 1 [RCV000670175] Chr19:12893542 [GRCh38]
Chr19:13004356 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_000159.4(GCDH):c.427G>A (p.Val143Ile) single nucleotide variant Glutaric aciduria, type 1 [RCV000669637] Chr19:12893575 [GRCh38]
Chr19:13004389 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_000159.4(GCDH):c.1014C>T (p.Asp338=) single nucleotide variant not specified [RCV000604340] Chr19:12897360 [GRCh38]
Chr19:13008174 [GRCh37]
Chr19:19p13.13
likely benign
NM_000159.4(GCDH):c.1299G>A (p.Ala433=) single nucleotide variant Glutaric aciduria, type 1 [RCV000899021]|not specified [RCV000244004] Chr19:12899523 [GRCh38]
Chr19:13010337 [GRCh37]
Chr19:19p13.13
likely benign|conflicting interpretations of pathogenicity
NM_000159.4(GCDH):c.505+32G>A single nucleotide variant not specified [RCV000249586] Chr19:12893685 [GRCh38]
Chr19:13004499 [GRCh37]
Chr19:19p13.13
benign
NM_000159.4(GCDH):c.127+48T>C single nucleotide variant not specified [RCV000252203] Chr19:12891570 [GRCh38]
Chr19:13002384 [GRCh37]
Chr19:19p13.13
benign
NM_000159.4(GCDH):c.471C>T (p.Ser157=) single nucleotide variant Glutaric aciduria, type 1 [RCV001087940]|not provided [RCV000735103]|not specified [RCV000611449] Chr19:12893619 [GRCh38]
Chr19:13004433 [GRCh37]
Chr19:19p13.13
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000159.4(GCDH):c.957-5T>C single nucleotide variant not provided [RCV000382129] Chr19:12897298 [GRCh38]
Chr19:13008112 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_000159.4(GCDH):c.759G>A (p.Lys253=) single nucleotide variant Glutaric aciduria, type 1 [RCV000272913] Chr19:12896328 [GRCh38]
Chr19:13007142 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_000159.4(GCDH):c.*70G>A single nucleotide variant Glutaric aciduria, type 1 [RCV000349297] Chr19:12899611 [GRCh38]
Chr19:13010425 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_000159.4(GCDH):c.*101G>A single nucleotide variant Glutaric aciduria, type 1 [RCV000664719] Chr19:12899642 [GRCh38]
Chr19:13010456 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_000159.4(GCDH):c.356C>T (p.Ser119Leu) single nucleotide variant Glutaric aciduria, type 1 [RCV000671394]|not provided [RCV000284260] Chr19:12893504 [GRCh38]
Chr19:13004318 [GRCh37]
Chr19:19p13.13
pathogenic|likely pathogenic|uncertain significance
NM_000159.4(GCDH):c.1083-10C>T single nucleotide variant Glutaric aciduria, type 1 [RCV000382523] Chr19:12897693 [GRCh38]
Chr19:13008507 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_000159.4(GCDH):c.1261G>A (p.Ala421Thr) single nucleotide variant Glutaric aciduria, type 1 [RCV000672042]|not provided [RCV000327109]|not specified [RCV001192370] Chr19:12899485 [GRCh38]
Chr19:13010299 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_000159.4(GCDH):c.1144G>A (p.Ala382Thr) single nucleotide variant Glutaric aciduria, type 1 [RCV000674015]|not provided [RCV000521789] Chr19:12897764 [GRCh38]
Chr19:13008578 [GRCh37]
Chr19:19p13.13
pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000159.4(GCDH):c.-35+9G>A single nucleotide variant Glutaric aciduria, type 1 [RCV000267770] Chr19:12891211 [GRCh38]
Chr19:13002025 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_000159.4(GCDH):c.1210G>A (p.Ala404Thr) single nucleotide variant Glutaric aciduria, type 1 [RCV000388286]|not specified [RCV000413394] Chr19:12897830 [GRCh38]
Chr19:13008644 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_000159.4(GCDH):c.557G>C (p.Ser186Thr) single nucleotide variant not provided [RCV000722628] Chr19:12896043 [GRCh38]
Chr19:13006857 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_000159.4(GCDH):c.329_332del (p.Ile110fs) deletion Glutaric aciduria, type 1 [RCV000586688] Chr19:12892172..12892175 [GRCh38]
Chr19:13002986..13002989 [GRCh37]
Chr19:19p13.13
pathogenic|likely pathogenic
NM_000159.4(GCDH):c.-49G>A single nucleotide variant Glutaric aciduria, type 1 [RCV000353123] Chr19:12891188 [GRCh38]
Chr19:13002002 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_000159.4(GCDH):c.-67dup duplication Glutaric acidemia [RCV000298201] Chr19:12891169..12891170 [GRCh38]
Chr19:13001983..13001984 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_000159.4(GCDH):c.852+5G>A single nucleotide variant Glutaric aciduria, type 1 [RCV000665806] Chr19:12896426 [GRCh38]
Chr19:13007240 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_000159.4(GCDH):c.528C>G (p.Cys176Trp) single nucleotide variant Glutaric aciduria, type 1 [RCV000627670] Chr19:12896014 [GRCh38]
Chr19:13006828 [GRCh37]
Chr19:19p13.13
likely pathogenic
NM_000159.4(GCDH):c.636-3_639del deletion Glutaric aciduria, type 1 [RCV000588698] Chr19:12896201..12896207 [GRCh38]
Chr19:13007015..13007021 [GRCh37]
Chr19:19p13.13
likely pathogenic
NM_000159.4(GCDH):c.591C>T (p.Tyr197=) single nucleotide variant not specified [RCV000602734] Chr19:12896077 [GRCh38]
Chr19:13006891 [GRCh37]
Chr19:19p13.13
likely benign
NM_000159.4(GCDH):c.571A>G (p.Met191Val) single nucleotide variant not provided [RCV000722537] Chr19:12896057 [GRCh38]
Chr19:13006871 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_000159.4(GCDH):c.79del (p.Ala27fs) deletion Glutaric aciduria, type 1 [RCV000409365] Chr19:12891382 [GRCh38]
Chr19:13002196 [GRCh37]
Chr19:19p13.13
pathogenic|likely pathogenic
NM_000159.4(GCDH):c.219del (p.Tyr74fs) deletion Glutaric aciduria, type 1 [RCV000409366] Chr19:12891921 [GRCh38]
Chr19:13002735 [GRCh37]
Chr19:19p13.13
pathogenic|likely pathogenic
NM_000159.4(GCDH):c.198del (p.Ile67fs) deletion Glutaric aciduria, type 1 [RCV000409879] Chr19:12891901 [GRCh38]
Chr19:13002715 [GRCh37]
Chr19:19p13.13
likely pathogenic
NM_000159.4(GCDH):c.1173del (p.Asn392fs) deletion Glutaric aciduria, type 1 [RCV000410057]|not provided [RCV001008118] Chr19:12897787 [GRCh38]
Chr19:13008601 [GRCh37]
Chr19:19p13.13
pathogenic|likely pathogenic
NM_000159.4(GCDH):c.853-2A>G single nucleotide variant Glutaric aciduria, type 1 [RCV000410275] Chr19:12896908 [GRCh38]
Chr19:13007722 [GRCh37]
Chr19:19p13.13
likely pathogenic
NM_000159.4(GCDH):c.1169G>C (p.Gly390Ala) single nucleotide variant Glutaric aciduria, type 1 [RCV000411911] Chr19:12897789 [GRCh38]
Chr19:13008603 [GRCh37]
Chr19:19p13.13
likely pathogenic
NM_000159.4(GCDH):c.339T>G (p.Tyr113Ter) single nucleotide variant Glutaric aciduria, type 1 [RCV000412155] Chr19:12893487 [GRCh38]
Chr19:13004301 [GRCh37]
Chr19:19p13.13
likely pathogenic
NM_000159.4(GCDH):c.665_668del (p.Leu221_Phe222insTer) deletion Glutaric aciduria, type 1 [RCV000410473] Chr19:12896231..12896234 [GRCh38]
Chr19:13007045..13007048 [GRCh37]
Chr19:19p13.13
likely pathogenic
NM_000159.4(GCDH):c.80_81del (p.Ala27fs) deletion Glutaric aciduria, type 1 [RCV000410524] Chr19:12891383..12891384 [GRCh38]
Chr19:13002197..13002198 [GRCh37]
Chr19:19p13.13
likely pathogenic
NM_000159.4(GCDH):c.382C>T (p.Arg128Ter) single nucleotide variant Glutaric aciduria, type 1 [RCV000409274] Chr19:12893530 [GRCh38]
Chr19:13004344 [GRCh37]
Chr19:19p13.13
pathogenic
NM_000159.4(GCDH):c.532G>A (p.Gly178Arg) single nucleotide variant Glutaric aciduria, type 1 [RCV000409563] Chr19:12896018 [GRCh38]
Chr19:13006832 [GRCh37]
Chr19:19p13.13
pathogenic|likely pathogenic
NM_000159.4(GCDH):c.848del (p.Leu283fs) deletion Glutaric aciduria, type 1 [RCV000410398] Chr19:12896417 [GRCh38]
Chr19:13007231 [GRCh37]
Chr19:19p13.13
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000159.4(GCDH):c.226C>T (p.Gln76Ter) single nucleotide variant Glutaric aciduria, type 1 [RCV000410967]|not provided [RCV000760423] Chr19:12891929 [GRCh38]
Chr19:13002743 [GRCh37]
Chr19:19p13.13
pathogenic|likely pathogenic
NM_000159.4(GCDH):c.743C>T (p.Pro248Leu) single nucleotide variant Glutaric aciduria, type 1 [RCV000411040] Chr19:12896312 [GRCh38]
Chr19:13007126 [GRCh37]
Chr19:19p13.13
pathogenic|likely pathogenic
NM_000159.4(GCDH):c.764C>T (p.Ser255Leu) single nucleotide variant Glutaric aciduria, type 1 [RCV000674290]|not provided [RCV000416219] Chr19:12896333 [GRCh38]
Chr19:13007147 [GRCh37]
Chr19:19p13.13
pathogenic|likely pathogenic
NM_000159.4(GCDH):c.268G>A (p.Glu90Lys) single nucleotide variant Glutaric aciduria, type 1 [RCV000533495] Chr19:12891971 [GRCh38]
Chr19:13002785 [GRCh37]
Chr19:19p13.13
likely pathogenic|uncertain significance
NM_000159.4(GCDH):c.514G>T (p.Glu172Ter) single nucleotide variant Glutaric aciduria, type 1 [RCV000412058] Chr19:12896000 [GRCh38]
Chr19:13006814 [GRCh37]
Chr19:19p13.13
likely pathogenic
NM_000159.4(GCDH):c.505+1_505+8del deletion Glutaric aciduria, type 1 [RCV000412140] Chr19:12893651..12893658 [GRCh38]
Chr19:13004465..13004472 [GRCh37]
Chr19:19p13.13
likely pathogenic
NM_000159.4(GCDH):c.172G>T (p.Glu58Ter) single nucleotide variant Glutaric aciduria, type 1 [RCV000412281] Chr19:12891875 [GRCh38]
Chr19:13002689 [GRCh37]
Chr19:19p13.13
likely pathogenic
NM_000159.4(GCDH):c.873del (p.Asn291fs) deletion Glutaric aciduria, type 1 [RCV000412413] Chr19:12896930 [GRCh38]
Chr19:13007744 [GRCh37]
Chr19:19p13.13
likely pathogenic
NM_000159.4(GCDH):c.280C>T (p.Arg94Trp) single nucleotide variant Glutaric aciduria, type 1 [RCV000539095] Chr19:12892124 [GRCh38]
Chr19:13002938 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_000159.4(GCDH):c.1085C>A (p.Ala362Asp) single nucleotide variant Glutaric aciduria, type 1 [RCV000541254]|not specified [RCV000603435] Chr19:12897705 [GRCh38]
Chr19:13008519 [GRCh37]
Chr19:19p13.13
benign|likely benign
GRCh37/hg19 19p13.2(chr19:12204632-13497073)x1 copy number loss See cases [RCV000449161] Chr19:12204632..13497073 [GRCh37]
Chr19:19p13.2
pathogenic
GRCh37/hg19 19p13.2(chr19:13006740-13007077)x3 copy number gain See cases [RCV000447684] Chr19:13006740..13007077 [GRCh37]
Chr19:19p13.2
benign
GRCh37/hg19 19p13.2-13.12(chr19:9678768-14853426) copy number gain See cases [RCV000446985] Chr19:9678768..14853426 [GRCh37]
Chr19:19p13.2-13.12
pathogenic
NM_000159.4(GCDH):c.395G>A (p.Arg132Gln) single nucleotide variant Glutaric aciduria, type 1 [RCV000553882]|not provided [RCV000444441] Chr19:12893543 [GRCh38]
Chr19:13004357 [GRCh37]
Chr19:19p13.13
pathogenic|likely pathogenic
NM_000159.4(GCDH):c.531C>T (p.Phe177=) single nucleotide variant not provided [RCV001257180]|not specified [RCV000438258] Chr19:12896017 [GRCh38]
Chr19:13006831 [GRCh37]
Chr19:19p13.13
likely benign
NM_000159.4(GCDH):c.1305G>A (p.Thr435=) single nucleotide variant not specified [RCV000438510] Chr19:12899529 [GRCh38]
Chr19:13010343 [GRCh37]
Chr19:19p13.13
likely benign
NM_000159.4(GCDH):c.1143C>T (p.Ile381=) single nucleotide variant Glutaric aciduria, type 1 [RCV000525178]|not provided [RCV000676738]|not specified [RCV000428617] Chr19:12897763 [GRCh38]
Chr19:13008577 [GRCh37]
Chr19:19p13.13
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000159.4(GCDH):c.-35+3A>G single nucleotide variant not specified [RCV000435483] Chr19:12891205 [GRCh38]
Chr19:13002019 [GRCh37]
Chr19:19p13.13
likely benign
NM_000159.4(GCDH):c.937C>T (p.Arg313Trp) single nucleotide variant Glutaric aciduria, type 1 [RCV000671835]|not provided [RCV000421572] Chr19:12896994 [GRCh38]
Chr19:13007808 [GRCh37]
Chr19:19p13.13
pathogenic|likely pathogenic
NM_000159.4(GCDH):c.285G>A (p.Glu95=) single nucleotide variant Glutaric aciduria, type 1 [RCV000871323]|not specified [RCV000435806] Chr19:12892129 [GRCh38]
Chr19:13002943 [GRCh37]
Chr19:19p13.13
likely benign
NM_000159.4(GCDH):c.1209C>T (p.His403=) single nucleotide variant Glutaric aciduria, type 1 [RCV000907043]|not specified [RCV000422090] Chr19:12897829 [GRCh38]
Chr19:13008643 [GRCh37]
Chr19:19p13.13
likely benign
NM_000159.4(GCDH):c.505+20G>T single nucleotide variant not specified [RCV000443111] Chr19:12893673 [GRCh38]
Chr19:13004487 [GRCh37]
Chr19:19p13.13
likely benign
NM_000159.4(GCDH):c.335-14C>T single nucleotide variant Glutaric aciduria, type 1 [RCV001197320]|not specified [RCV000440089] Chr19:12893469 [GRCh38]
Chr19:13004283 [GRCh37]
Chr19:19p13.13
likely benign
NM_000159.4(GCDH):c.-35G>A single nucleotide variant Glutaric aciduria, type 1 [RCV001124037]|not specified [RCV000443628] Chr19:12891202 [GRCh38]
Chr19:13002016 [GRCh37]
Chr19:19p13.13
likely benign|uncertain significance
NM_000159.4(GCDH):c.1156C>G (p.Arg386Gly) single nucleotide variant Glutaric aciduria, type 1 [RCV001043306]|not provided [RCV000430164] Chr19:12897776 [GRCh38]
Chr19:13008590 [GRCh37]
Chr19:19p13.13
pathogenic|likely pathogenic
NM_000159.4(GCDH):c.*206G>A single nucleotide variant not specified [RCV000436790] Chr19:12899747 [GRCh38]
Chr19:13010561 [GRCh37]
Chr19:19p13.13
likely benign
NM_000159.4(GCDH):c.738G>A (p.Ser246=) single nucleotide variant Glutaric aciduria, type 1 [RCV000906189]|not specified [RCV000420558] Chr19:12896307 [GRCh38]
Chr19:13007121 [GRCh37]
Chr19:19p13.13
benign|likely benign|conflicting interpretations of pathogenicity
GRCh37/hg19 19p13.2(chr19:13006847-13007077)x3 copy number gain See cases [RCV000448443] Chr19:13006847..13007077 [GRCh37]
Chr19:19p13.2
benign|likely benign
NM_000159.4(GCDH):c.281G>A (p.Arg94Gln) single nucleotide variant Glutaric aciduria, type 1 [RCV000675080]|not provided [RCV000485466] Chr19:12892125 [GRCh38]
Chr19:13002939 [GRCh37]
Chr19:19p13.13
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000159.4(GCDH):c.641C>T (p.Thr214Met) single nucleotide variant Glutaric aciduria, type 1 [RCV000668340]|not provided [RCV000493776] Chr19:12896210 [GRCh38]
Chr19:13007024 [GRCh37]
Chr19:19p13.13
likely pathogenic|uncertain significance
NM_000159.4(GCDH):c.956+5G>A single nucleotide variant not provided [RCV000494174] Chr19:12897018 [GRCh38]
Chr19:13007832 [GRCh37]
Chr19:19p13.13
likely pathogenic
NM_000159.4(GCDH):c.1063C>T (p.Arg355Cys) single nucleotide variant Glutaric aciduria, type 1 [RCV000670238]|not provided [RCV000494375] Chr19:12897409 [GRCh38]
Chr19:13008223 [GRCh37]
Chr19:19p13.13
pathogenic|likely pathogenic
NM_000159.4(GCDH):c.892G>A (p.Ala298Thr) single nucleotide variant Glutaric aciduria, type 1 [RCV000587206]|not provided [RCV000494627] Chr19:12896949 [GRCh38]
Chr19:13007763 [GRCh37]
Chr19:19p13.13
pathogenic|likely pathogenic
GRCh37/hg19 19p13.2-13.12(chr19:12574343-14726197)x1 copy number loss See cases [RCV000511130] Chr19:12574343..14726197 [GRCh37]
Chr19:19p13.2-13.12
pathogenic
NM_000159.4(GCDH):c.1239C>G (p.Tyr413Ter) single nucleotide variant Glutaric aciduria, type 1 [RCV000669106] Chr19:12897859 [GRCh38]
Chr19:13008673 [GRCh37]
Chr19:19p13.13
likely pathogenic
NM_000159.4(GCDH):c.881G>C (p.Arg294Pro) single nucleotide variant Glutaric aciduria, type 1 [RCV000495869] Chr19:12896938 [GRCh38]
Chr19:13007752 [GRCh37]
Chr19:19p13.13
likely pathogenic
GRCh37/hg19 19p13.2-13.12(chr19:11608072-14543046)x3 copy number gain See cases [RCV000511013] Chr19:11608072..14543046 [GRCh37]
Chr19:19p13.2-13.12
uncertain significance
NM_000159.4(GCDH):c.737C>T (p.Ser246Leu) single nucleotide variant Glutaric aciduria, type 1 [RCV000530261] Chr19:12896306 [GRCh38]
Chr19:13007120 [GRCh37]
Chr19:19p13.13
likely pathogenic
NM_000159.4(GCDH):c.1249C>G (p.His417Asp) single nucleotide variant Glutaric aciduria, type 1 [RCV000634886] Chr19:12899473 [GRCh38]
Chr19:13010287 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_000159.4(GCDH):c.479A>G (p.Gln160Arg) single nucleotide variant Glutaric aciduria, type 1 [RCV000634888] Chr19:12893627 [GRCh38]
Chr19:13004441 [GRCh37]
Chr19:19p13.13
pathogenic|conflicting interpretations of pathogenicity
NM_000159.4(GCDH):c.397G>A (p.Val133Met) single nucleotide variant Glutaric aciduria, type 1 [RCV000531618] Chr19:12893545 [GRCh38]
Chr19:13004359 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_000159.4(GCDH):c.636-4_639del deletion Glutaric aciduria, type 1 [RCV000587156] Chr19:12896200..12896207 [GRCh38]
Chr19:13007014..13007021 [GRCh37]
Chr19:19p13.13
likely pathogenic
NM_000159.4(GCDH):c.881G>T (p.Arg294Leu) single nucleotide variant Glutaric aciduria, type 1 [RCV000634890] Chr19:12896938 [GRCh38]
Chr19:13007752 [GRCh37]
Chr19:19p13.13
likely pathogenic|uncertain significance
NM_000159.4(GCDH):c.1197C>T (p.His399=) single nucleotide variant Glutaric aciduria, type 1 [RCV000634892] Chr19:12897817 [GRCh38]
Chr19:13008631 [GRCh37]
Chr19:19p13.13
benign|conflicting interpretations of pathogenicity
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_000159.4(GCDH):c.712C>T (p.Leu238=) single nucleotide variant not specified [RCV000614956] Chr19:12896281 [GRCh38]
Chr19:13007095 [GRCh37]
Chr19:19p13.13
likely benign
NM_000159.4(GCDH):c.1189G>A (p.Glu397Lys) single nucleotide variant Glutaric aciduria, type 1 [RCV000539888] Chr19:12897809 [GRCh38]
Chr19:13008623 [GRCh37]
Chr19:19p13.13
pathogenic|uncertain significance
NM_000159.4(GCDH):c.636-18C>T single nucleotide variant Glutaric aciduria, type 1 [RCV000671329]|not specified [RCV000605526] Chr19:12896187 [GRCh38]
Chr19:13007001 [GRCh37]
Chr19:19p13.13
likely benign
NM_000159.4(GCDH):c.127+8C>T single nucleotide variant Glutaric aciduria, type 1 [RCV000922031]|not specified [RCV000610268] Chr19:12891530 [GRCh38]
Chr19:13002344 [GRCh37]
Chr19:19p13.13
likely benign
NM_000159.4(GCDH):c.891C>T (p.Ile297=) single nucleotide variant Glutaric aciduria, type 1 [RCV000877071]|not specified [RCV000610373] Chr19:12896948 [GRCh38]
Chr19:13007762 [GRCh37]
Chr19:19p13.13
likely benign
NM_000159.4(GCDH):c.642G>A (p.Thr214=) single nucleotide variant Glutaric aciduria, type 1 [RCV000634891]|not specified [RCV000616616] Chr19:12896211 [GRCh38]
Chr19:13007025 [GRCh37]
Chr19:19p13.13
benign|likely benign|conflicting interpretations of pathogenicity
NM_000159.4(GCDH):c.-35+17_-35+19delinsGG indel not specified [RCV000611096] Chr19:12891219..12891221 [GRCh38]
Chr19:13002033..13002035 [GRCh37]
Chr19:19p13.13
likely benign
NM_000159.4(GCDH):c.541G>C (p.Glu181Gln) single nucleotide variant Glutaric aciduria, type 1 [RCV000625783] Chr19:12896027 [GRCh38]
Chr19:13006841 [GRCh37]
Chr19:19p13.13
pathogenic
NM_000159.4(GCDH):c.1188C>T (p.Asp396=) single nucleotide variant Glutaric aciduria, type 1 [RCV000983537]|not specified [RCV000604510] Chr19:12897808 [GRCh38]
Chr19:13008622 [GRCh37]
Chr19:19p13.13
likely benign
NM_000159.4(GCDH):c.524G>A (p.Gly175Asp) single nucleotide variant not provided [RCV000594234] Chr19:12896010 [GRCh38]
Chr19:13006824 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_000159.4(GCDH):c.894G>A (p.Ala298=) single nucleotide variant Glutaric aciduria, type 1 [RCV000907047]|not specified [RCV000605628] Chr19:12896951 [GRCh38]
Chr19:13007765 [GRCh37]
Chr19:19p13.13
likely benign
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
NM_000159.4(GCDH):c.770G>A (p.Arg257Gln) single nucleotide variant Glutaric aciduria, type 1 [RCV000634885]|not provided [RCV000735163] Chr19:12896339 [GRCh38]
Chr19:13007153 [GRCh37]
Chr19:19p13.13
pathogenic
NM_000159.4(GCDH):c.262C>A (p.Arg88Ser) single nucleotide variant Glutaric aciduria, type 1 [RCV000634887] Chr19:12891965 [GRCh38]
Chr19:13002779 [GRCh37]
Chr19:19p13.13
pathogenic|likely pathogenic
NM_000159.4(GCDH):c.281G>T (p.Arg94Leu) single nucleotide variant Glutaric aciduria, type 1 [RCV000634889] Chr19:12892125 [GRCh38]
Chr19:13002939 [GRCh37]
Chr19:19p13.13
likely pathogenic
NM_000159.4(GCDH):c.386A>C (p.Glu129Ala) single nucleotide variant Glutaric aciduria, type 1 [RCV000685014] Chr19:12893534 [GRCh38]
Chr19:13004348 [GRCh37]
Chr19:19p13.13
pathogenic|uncertain significance
NM_000159.4(GCDH):c.536T>G (p.Leu179Arg) single nucleotide variant Glutaric aciduria, type 1 [RCV000672204] Chr19:12896022 [GRCh38]
Chr19:13006836 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_000159.4(GCDH):c.798G>A (p.Met266Ile) single nucleotide variant Glutaric aciduria, type 1 [RCV000672403] Chr19:12896367 [GRCh38]
Chr19:13007181 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_000159.4(GCDH):c.1173dup (p.Asn392fs) duplication Glutaric aciduria, type 1 [RCV000671412] Chr19:12897786..12897787 [GRCh38]
Chr19:13008600..13008601 [GRCh37]
Chr19:19p13.13
pathogenic|likely pathogenic
NM_000159.4(GCDH):c.1148G>A (p.Arg383His) single nucleotide variant Glutaric aciduria, type 1 [RCV000671613] Chr19:12897768 [GRCh38]
Chr19:13008582 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_000159.4(GCDH):c.1244-15A>G single nucleotide variant Glutaric aciduria, type 1 [RCV000665025] Chr19:12899453 [GRCh38]
Chr19:13010267 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_000159.4(GCDH):c.873C>A (p.Asn291Lys) single nucleotide variant Glutaric aciduria, type 1 [RCV000670161] Chr19:12896930 [GRCh38]
Chr19:13007744 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_000159.4(GCDH):c.1054C>T (p.Gln352Ter) single nucleotide variant Glutaric aciduria, type 1 [RCV000670197] Chr19:12897400 [GRCh38]
Chr19:13008214 [GRCh37]
Chr19:19p13.13
pathogenic
NM_000159.4(GCDH):c.1286C>T (p.Thr429Met) single nucleotide variant Glutaric aciduria, type 1 [RCV000673919] Chr19:12899510 [GRCh38]
Chr19:13010324 [GRCh37]
Chr19:19p13.13
conflicting interpretations of pathogenicity|uncertain significance
NM_000159.4(GCDH):c.700C>T (p.Arg234Trp) single nucleotide variant Glutaric aciduria, type 1 [RCV000667870] Chr19:12896269 [GRCh38]
Chr19:13007083 [GRCh37]
Chr19:19p13.13
conflicting interpretations of pathogenicity|uncertain significance
NM_000159.4(GCDH):c.636-26C>T single nucleotide variant Glutaric aciduria, type 1 [RCV000670673] Chr19:12896179 [GRCh38]
Chr19:13006993 [GRCh37]
Chr19:19p13.13
likely benign
NM_000159.4(GCDH):c.437C>A (p.Ser146Tyr) single nucleotide variant Glutaric aciduria, type 1 [RCV000671039] Chr19:12893585 [GRCh38]
Chr19:13004399 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_000159.4(GCDH):c.1169G>T (p.Gly390Val) single nucleotide variant Glutaric aciduria, type 1 [RCV000674107] Chr19:12897789 [GRCh38]
Chr19:13008603 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_000159.4(GCDH):c.1A>C (p.Met1Leu) single nucleotide variant Glutaric aciduria, type 1 [RCV000668267] Chr19:12891305 [GRCh38]
Chr19:13002119 [GRCh37]
Chr19:19p13.13
likely pathogenic
NM_000159.4(GCDH):c.1244-2A>G single nucleotide variant Glutaric aciduria, type 1 [RCV000668317] Chr19:12899466 [GRCh38]
Chr19:13010280 [GRCh37]
Chr19:19p13.13
likely pathogenic
NM_000159.4(GCDH):c.1298C>T (p.Ala433Val) single nucleotide variant Glutaric aciduria, type 1 [RCV000672203] Chr19:12899522 [GRCh38]
Chr19:13010336 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_000159.4(GCDH):c.192G>T (p.Glu64Asp) single nucleotide variant Glutaric aciduria, type 1 [RCV000665639] Chr19:12891895 [GRCh38]
Chr19:13002709 [GRCh37]
Chr19:19p13.13
likely pathogenic
NM_000159.4(GCDH):c.368A>G (p.Tyr123Cys) single nucleotide variant Glutaric aciduria, type 1 [RCV001212105]|Glutaricaciduria, type I [RCV000790376] Chr19:12893516 [GRCh38]
Chr19:13004330 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_000159.4(GCDH):c.337T>C (p.Tyr113His) single nucleotide variant Glutaric aciduria, type 1 [RCV000673679] Chr19:12893485 [GRCh38]
Chr19:13004299 [GRCh37]
Chr19:19p13.13
likely pathogenic
NM_000159.4(GCDH):c.*201A>C single nucleotide variant Glutaric aciduria, type 1 [RCV000670005] Chr19:12899742 [GRCh38]
Chr19:13010556 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_000159.4(GCDH):c.334G>T (p.Gly112Ter) single nucleotide variant Glutaric aciduria, type 1 [RCV000670206] Chr19:12892178 [GRCh38]
Chr19:13002992 [GRCh37]
Chr19:19p13.13
likely pathogenic
NM_000159.4(GCDH):c.910G>A (p.Ala304Thr) single nucleotide variant Glutaric aciduria, type 1 [RCV000670621] Chr19:12896967 [GRCh38]
Chr19:13007781 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_000159.4(GCDH):c.1220T>C (p.Leu407Pro) single nucleotide variant Glutaric aciduria, type 1 [RCV000667393] Chr19:12897840 [GRCh38]
Chr19:13008654 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_000159.4(GCDH):c.636-24C>G single nucleotide variant Glutaric aciduria, type 1 [RCV000670653] Chr19:12896181 [GRCh38]
Chr19:13006995 [GRCh37]
Chr19:19p13.13
likely benign
NM_000159.4(GCDH):c.1015A>G (p.Met339Val) single nucleotide variant Glutaric aciduria, type 1 [RCV000671046] Chr19:12897361 [GRCh38]
Chr19:13008175 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_000159.4(GCDH):c.397G>T (p.Val133Leu) single nucleotide variant Glutaric aciduria, type 1 [RCV000671234] Chr19:12893545 [GRCh38]
Chr19:13004359 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_000159.4(GCDH):c.1115G>A (p.Arg372Lys) single nucleotide variant Glutaric aciduria, type 1 [RCV000673771] Chr19:12897735 [GRCh38]
Chr19:13008549 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_000159.4(GCDH):c.380_391del (p.Ala127_Leu130del) deletion Glutaric aciduria, type 1 [RCV000667552] Chr19:12893524..12893535 [GRCh38]
Chr19:13004338..13004349 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_000159.4(GCDH):c.636-38G>A single nucleotide variant Glutaric aciduria, type 1 [RCV000671476] Chr19:12896167 [GRCh38]
Chr19:13006981 [GRCh37]
Chr19:19p13.13
likely benign
NM_000159.4(GCDH):c.365C>T (p.Ala122Val) single nucleotide variant Glutaric aciduria, type 1 [RCV000674191] Chr19:12893513 [GRCh38]
Chr19:13004327 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_000159.4(GCDH):c.636-2dup duplication Glutaric aciduria, type 1 [RCV000667834] Chr19:12896202..12896203 [GRCh38]
Chr19:13007016..13007017 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_000159.4(GCDH):c.1082+1G>T single nucleotide variant Glutaric aciduria, type 1 [RCV000672676] Chr19:12897429 [GRCh38]
Chr19:13008243 [GRCh37]
Chr19:19p13.13
likely pathogenic
NM_000159.4(GCDH):c.1317A>G (p.Ter439Trp) single nucleotide variant Glutaric aciduria, type 1 [RCV000672866] Chr19:12899541 [GRCh38]
Chr19:13010355 [GRCh37]
Chr19:19p13.13
likely pathogenic
NM_000159.4(GCDH):c.416C>G (p.Ser139Trp) single nucleotide variant Glutaric aciduria, type 1 [RCV000665802] Chr19:12893564 [GRCh38]
Chr19:13004378 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_000159.4(GCDH):c.1315T>C (p.Ter439Arg) single nucleotide variant Glutaric aciduria, type 1 [RCV000664645] Chr19:12899539 [GRCh38]
Chr19:13010353 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_000159.4(GCDH):c.227A>C (p.Gln76Pro) single nucleotide variant Glutaric aciduria, type 1 [RCV000668423] Chr19:12891930 [GRCh38]
Chr19:13002744 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_000159.4(GCDH):c.*182_*184AGA[1] microsatellite Glutaric aciduria, type 1 [RCV000668766] Chr19:12899722..12899724 [GRCh38]
Chr19:13010536..13010538 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_000159.4(GCDH):c.301G>A (p.Gly101Arg) single nucleotide variant Glutaric aciduria, type 1 [RCV000665561] Chr19:12892145 [GRCh38]
Chr19:13002959 [GRCh37]
Chr19:19p13.13
likely pathogenic
NM_000159.4(GCDH):c.727_730dup (p.Gly244fs) duplication Glutaric aciduria, type 1 [RCV000674219] Chr19:12896294..12896295 [GRCh38]
Chr19:13007108..13007109 [GRCh37]
Chr19:19p13.13
likely pathogenic
NM_000159.4(GCDH):c.997C>T (p.Gln333Ter) single nucleotide variant Glutaric aciduria, type 1 [RCV000672731] Chr19:12897343 [GRCh38]
Chr19:13008157 [GRCh37]
Chr19:19p13.13
likely pathogenic
NM_000159.4(GCDH):c.3G>A (p.Met1Ile) single nucleotide variant Glutaric aciduria, type 1 [RCV000666241] Chr19:12891307 [GRCh38]
Chr19:13002121 [GRCh37]
Chr19:19p13.13
likely pathogenic
NM_000159.4(GCDH):c.646_649dup (p.Pro217fs) duplication Glutaric aciduria, type 1 [RCV000665541] Chr19:12896213..12896214 [GRCh38]
Chr19:13007027..13007028 [GRCh37]
Chr19:19p13.13
likely pathogenic
NM_000159.4(GCDH):c.396G>T (p.Arg132=) single nucleotide variant not provided [RCV000676737] Chr19:12893544 [GRCh38]
Chr19:13004358 [GRCh37]
Chr19:19p13.13
likely benign
NM_000159.4(GCDH):c.73_75TCG[1] (p.Ser26del) microsatellite Glutaric aciduria, type 1 [RCV000666490] Chr19:12891377..12891379 [GRCh38]
Chr19:13002191..13002193 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_000159.4(GCDH):c.640A>G (p.Thr214Ala) single nucleotide variant Glutaric aciduria, type 1 [RCV000666652] Chr19:12896209 [GRCh38]
Chr19:13007023 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_000159.4(GCDH):c.1124G>A (p.Cys375Tyr) single nucleotide variant Glutaric aciduria, type 1 [RCV000700254] Chr19:12897744 [GRCh38]
Chr19:13008558 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_000159.4(GCDH):c.751C>T (p.Gln251Ter) single nucleotide variant Glutaric aciduria, type 1 [RCV000700730] Chr19:12896320 [GRCh38]
Chr19:13007134 [GRCh37]
Chr19:19p13.13
pathogenic
NM_000159.4(GCDH):c.914C>T (p.Ser305Leu) single nucleotide variant Glutaric aciduria, type 1 [RCV000705476] Chr19:12896971 [GRCh38]
Chr19:13007785 [GRCh37]
Chr19:19p13.13
pathogenic
NM_000159.4(GCDH):c.797T>C (p.Met266Thr) single nucleotide variant Glutaric aciduria, type 1 [RCV000697955] Chr19:12896366 [GRCh38]
Chr19:13007180 [GRCh37]
Chr19:19p13.13
likely pathogenic
NM_000159.4(GCDH):c.1118A>G (p.Asn373Ser) single nucleotide variant Glutaric aciduria, type 1 [RCV000696441] Chr19:12897738 [GRCh38]
Chr19:13008552 [GRCh37]
Chr19:19p13.13
uncertain significance
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_000159.4(GCDH):c.209C>A (p.Thr70Asn) single nucleotide variant Glutaric aciduria, type 1 [RCV000941197] Chr19:12891912 [GRCh38]
Chr19:13002726 [GRCh37]
Chr19:19p13.13
likely benign
NM_000159.4(GCDH):c.786C>A (p.Gly262=) single nucleotide variant not provided [RCV000978586] Chr19:12896355 [GRCh38]
Chr19:13007169 [GRCh37]
Chr19:19p13.13
likely benign
NM_000159.4(GCDH):c.880C>T (p.Arg294Trp) single nucleotide variant Glutaric aciduria, type 1 [RCV001066990] Chr19:12896937 [GRCh38]
Chr19:13007751 [GRCh37]
Chr19:19p13.13
pathogenic
NM_000159.4(GCDH):c.1287G>T (p.Thr429=) single nucleotide variant Glutaric aciduria, type 1 [RCV000907049] Chr19:12899511 [GRCh38]
Chr19:13010325 [GRCh37]
Chr19:19p13.13
likely benign
NM_000159.4(GCDH):c.801C>T (p.Asp267=) single nucleotide variant Glutaric aciduria, type 1 [RCV000951223] Chr19:12896370 [GRCh38]
Chr19:13007184 [GRCh37]
Chr19:19p13.13
benign
NM_000159.4(GCDH):c.957-8C>T single nucleotide variant not provided [RCV000975804] Chr19:12897295 [GRCh38]
Chr19:13008109 [GRCh37]
Chr19:19p13.13
likely benign
NM_000159.4(GCDH):c.635+10C>A single nucleotide variant not provided [RCV000922404] Chr19:12896131 [GRCh38]
Chr19:13006945 [GRCh37]
Chr19:19p13.13
likely benign
NM_000159.4(GCDH):c.1287G>A (p.Thr429=) single nucleotide variant Glutaric aciduria, type 1 [RCV000922119] Chr19:12899511 [GRCh38]
Chr19:13010325 [GRCh37]
Chr19:19p13.13
likely benign
NM_000159.4(GCDH):c.658G>A (p.Asp220Asn) single nucleotide variant Glutaric aciduria, type 1 [RCV001041052] Chr19:12896227 [GRCh38]
Chr19:13007041 [GRCh37]
Chr19:19p13.13
pathogenic|conflicting interpretations of pathogenicity
NM_000159.4(GCDH):c.776C>T (p.Ser259Leu) single nucleotide variant Glutaric aciduria, type 1 [RCV001062215] Chr19:12896345 [GRCh38]
Chr19:13007159 [GRCh37]
Chr19:19p13.13
likely pathogenic
NM_000159.4(GCDH):c.406G>T (p.Gly136Cys) single nucleotide variant Glutaric aciduria, type 1 [RCV001058595] Chr19:12893554 [GRCh38]
Chr19:13004368 [GRCh37]
Chr19:19p13.13
pathogenic
NM_000159.4(GCDH):c.1033C>G (p.Leu345Val) single nucleotide variant Glutaric aciduria, type 1 [RCV001054156] Chr19:12897379 [GRCh38]
Chr19:13008193 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_000159.4(GCDH):c.1133C>T (p.Ala378Val) single nucleotide variant Glutaric aciduria, type 1 [RCV001054157] Chr19:12897753 [GRCh38]
Chr19:13008567 [GRCh37]
Chr19:19p13.13
pathogenic
NM_000159.4(GCDH):c.655G>A (p.Ala219Thr) single nucleotide variant Glutaric aciduria, type 1 [RCV001060570] Chr19:12896224 [GRCh38]
Chr19:13007038 [GRCh37]
Chr19:19p13.13
pathogenic
NM_000159.4(GCDH):c.1260C>T (p.His420=) single nucleotide variant Glutaric aciduria, type 1 [RCV000983463] Chr19:12899484 [GRCh38]
Chr19:13010298 [GRCh37]
Chr19:19p13.13
likely benign
NM_000159.4(GCDH):c.506-8G>T single nucleotide variant Glutaric aciduria, type 1 [RCV000927880] Chr19:12895984 [GRCh38]
Chr19:13006798 [GRCh37]
Chr19:19p13.13
likely benign
NM_000159.4(GCDH):c.417G>A (p.Ser139=) single nucleotide variant Glutaric aciduria, type 1 [RCV000974719] Chr19:12893565 [GRCh38]
Chr19:13004379 [GRCh37]
Chr19:19p13.13
likely benign
NM_000159.4(GCDH):c.627C>T (p.Thr209=) single nucleotide variant Glutaric aciduria, type 1 [RCV000872004] Chr19:12896113 [GRCh38]
Chr19:13006927 [GRCh37]
Chr19:19p13.13
likely benign|conflicting interpretations of pathogenicity
NM_000159.4(GCDH):c.54C>T (p.His18=) single nucleotide variant Glutaric aciduria, type 1 [RCV000872580] Chr19:12891358 [GRCh38]
Chr19:13002172 [GRCh37]
Chr19:19p13.13
likely benign
NM_000159.4(GCDH):c.1244-4C>A single nucleotide variant not provided [RCV000917003] Chr19:12899464 [GRCh38]
Chr19:13010278 [GRCh37]
Chr19:19p13.13
likely benign
NM_000159.4(GCDH):c.957-6A>C single nucleotide variant Glutaric aciduria, type 1 [RCV000975574] Chr19:12897297 [GRCh38]
Chr19:13008111 [GRCh37]
Chr19:19p13.13
likely benign
NM_000159.4(GCDH):c.102G>A (p.Gly34=) single nucleotide variant Glutaric aciduria, type 1 [RCV000939363] Chr19:12891497 [GRCh38]
Chr19:13002311 [GRCh37]
Chr19:19p13.13
likely benign
NM_000159.4(GCDH):c.552C>T (p.Ser184=) single nucleotide variant Glutaric aciduria, type 1 [RCV000887354] Chr19:12896038 [GRCh38]
Chr19:13006852 [GRCh37]
Chr19:19p13.13
likely benign
NM_000159.4(GCDH):c.506-8G>A single nucleotide variant Glutaric aciduria, type 1 [RCV000977658]|Intellectual disability [RCV001252001] Chr19:12895984 [GRCh38]
Chr19:13006798 [GRCh37]
Chr19:19p13.13
likely benign
NM_000159.4(GCDH):c.1044C>T (p.His348=) single nucleotide variant Glutaric aciduria, type 1 [RCV000872136] Chr19:12897390 [GRCh38]
Chr19:13008204 [GRCh37]
Chr19:19p13.13
likely benign
NM_000159.4(GCDH):c.886G>A (p.Gly296Ser) single nucleotide variant Glutaric aciduria, type 1 [RCV000927620] Chr19:12896943 [GRCh38]
Chr19:13007757 [GRCh37]
Chr19:19p13.13
likely benign
NM_000159.4(GCDH):c.1227C>T (p.Ala409=) single nucleotide variant Glutaric aciduria, type 1 [RCV000885990] Chr19:12897847 [GRCh38]
Chr19:13008661 [GRCh37]
Chr19:19p13.13
likely benign
NM_000159.4(GCDH):c.378G>C (p.Leu126=) single nucleotide variant Glutaric aciduria, type 1 [RCV000981435] Chr19:12893526 [GRCh38]
Chr19:13004340 [GRCh37]
Chr19:19p13.13
likely benign
NM_000159.4(GCDH):c.296A>G (p.Glu99Gly) single nucleotide variant Glutaric aciduria, type 1 [RCV000767351] Chr19:12892140 [GRCh38]
Chr19:13002954 [GRCh37]
Chr19:19p13.13
pathogenic
NM_000159.4(GCDH):c.701G>C (p.Arg234Pro) single nucleotide variant Glutaric aciduria, type 1 [RCV000767352] Chr19:12896270 [GRCh38]
Chr19:13007084 [GRCh37]
Chr19:19p13.13
pathogenic
NM_000159.4(GCDH):c.1114A>G (p.Arg372Gly) single nucleotide variant Glutaric aciduria, type 1 [RCV000767353] Chr19:12897734 [GRCh38]
Chr19:13008548 [GRCh37]
Chr19:19p13.13
pathogenic
NM_000159.4(GCDH):c.1240G>T (p.Glu414Ter) single nucleotide variant Glutaric aciduria, type 1 [RCV000767354] Chr19:12897860 [GRCh38]
Chr19:13008674 [GRCh37]
Chr19:19p13.13
pathogenic
NM_000159.4(GCDH):c.1167_1168insT (p.Gly390fs) insertion Glutaric aciduria, type 1 [RCV000767355] Chr19:12897787..12897788 [GRCh38]
Chr19:13008601..13008602 [GRCh37]
Chr19:19p13.13
likely pathogenic
NM_000159.4(GCDH):c.832C>T (p.Pro278Ser) single nucleotide variant Glutaric aciduria, type 1 [RCV000796665] Chr19:12896401 [GRCh38]
Chr19:13007215 [GRCh37]
Chr19:19p13.13
likely pathogenic
NM_000159.4(GCDH):c.1083-106T>C single nucleotide variant not provided [RCV000835740] Chr19:12897597 [GRCh38]
Chr19:13008411 [GRCh37]
Chr19:19p13.13
benign
NM_000159.4(GCDH):c.1239C>T (p.Tyr413=) single nucleotide variant Glutaric aciduria, type 1 [RCV000937237] Chr19:12897859 [GRCh38]
Chr19:13008673 [GRCh37]
Chr19:19p13.13
likely benign
NM_000159.4(GCDH):c.116A>C (p.Gln39Pro) single nucleotide variant Glutaric aciduria, type 1 [RCV000810467] Chr19:12891511 [GRCh38]
Chr19:13002325 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_000159.4(GCDH):c.1298C>A (p.Ala433Glu) single nucleotide variant Glutaric aciduria, type 1 [RCV000817710] Chr19:12899522 [GRCh38]
Chr19:13010336 [GRCh37]
Chr19:19p13.13
pathogenic
NM_000159.4(GCDH):c.-35+19C>T single nucleotide variant not provided [RCV000839909] Chr19:12891221 [GRCh38]
Chr19:13002035 [GRCh37]
Chr19:19p13.13
likely benign
NM_000159.4(GCDH):c.553_570del (p.Gly185_Ser190del) deletion Glutaric aciduria, type 1 [RCV000985245] Chr19:12896035..12896052 [GRCh38]
Chr19:13006849..13006866 [GRCh37]
Chr19:19p13.13
pathogenic
NM_000159.4(GCDH):c.566G>C (p.Ser189Thr) single nucleotide variant Glutaric aciduria, type 1 [RCV000785884] Chr19:12896052 [GRCh38]
Chr19:13006866 [GRCh37]
Chr19:19p13.13
likely pathogenic
NM_000159.4(GCDH):c.242C>G (p.Pro81Arg) single nucleotide variant Glutaric aciduria, type 1 [RCV000795220] Chr19:12891945 [GRCh38]
Chr19:13002759 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_000159.4(GCDH):c.748A>T (p.Ile250Phe) single nucleotide variant Glutaric aciduria, type 1 [RCV000815247] Chr19:12896317 [GRCh38]
Chr19:13007131 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_000159.4(GCDH):c.1182T>G (p.Ile394Met) single nucleotide variant Glutaric aciduria, type 1 [RCV000816822] Chr19:12897802 [GRCh38]
Chr19:13008616 [GRCh37]
Chr19:19p13.13
pathogenic|uncertain significance
NM_000159.4(GCDH):c.91+5G>A single nucleotide variant Glutaric aciduria, type 1 [RCV000802276] Chr19:12891400 [GRCh38]
Chr19:13002214 [GRCh37]
Chr19:19p13.13
pathogenic|likely pathogenic
NM_000159.4(GCDH):c.782C>T (p.Thr261Ile) single nucleotide variant Glutaric aciduria, type 1 [RCV000803410] Chr19:12896351 [GRCh38]
Chr19:13007165 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_000159.4(GCDH):c.1018C>T (p.Leu340Phe) single nucleotide variant Glutaricaciduria, type I [RCV000790377] Chr19:12897364 [GRCh38]
Chr19:13008178 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_000159.4(GCDH):c.1098G>A (p.Met366Ile) single nucleotide variant Glutaric aciduria, type 1 [RCV000812974] Chr19:12897718 [GRCh38]
Chr19:13008532 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_000159.4(GCDH):c.853-155G>A single nucleotide variant not provided [RCV000832432] Chr19:12896755 [GRCh38]
Chr19:13007569 [GRCh37]
Chr19:19p13.13
likely benign
NM_000159.4(GCDH):c.553G>A (p.Gly185Arg) single nucleotide variant Glutaric aciduria, type 1 [RCV000818955] Chr19:12896039 [GRCh38]
Chr19:13006853 [GRCh37]
Chr19:19p13.13
pathogenic
NM_000159.4(GCDH):c.679C>T (p.Arg227Trp) single nucleotide variant Glutaric aciduria, type 1 [RCV000815377] Chr19:12896248 [GRCh38]
Chr19:13007062 [GRCh37]
Chr19:19p13.13
likely pathogenic
NC_000019.10:g.12896644C>T single nucleotide variant not provided [RCV000828563] Chr19:13007458 [GRCh37]
Chr19:19p13.2
benign
GRCh37/hg19 19p13.2(chr19:12354642-13424014)x1 copy number loss not provided [RCV000846538] Chr19:12354642..13424014 [GRCh37]
Chr19:19p13.2
pathogenic
NM_000159.4(GCDH):c.674G>C (p.Trp225Ser) single nucleotide variant Glutaric aciduria, type 1 [RCV000785883] Chr19:12896243 [GRCh38]
Chr19:13007057 [GRCh37]
Chr19:19p13.13
likely pathogenic
NM_000159.4(GCDH):c.510G>C (p.Lys170Asn) single nucleotide variant Glutaric aciduria, type 1 [RCV000824091] Chr19:12895996 [GRCh38]
Chr19:13006810 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_000159.4(GCDH):c.881G>A (p.Arg294Gln) single nucleotide variant Glutaric aciduria, type 1 [RCV001066080] Chr19:12896938 [GRCh38]
Chr19:13007752 [GRCh37]
Chr19:19p13.13
pathogenic|conflicting interpretations of pathogenicity
NM_000159.4(GCDH):c.325A>G (p.Thr109Ala) single nucleotide variant Glutaric aciduria, type 1 [RCV001231532] Chr19:12892169 [GRCh38]
Chr19:13002983 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_000159.4(GCDH):c.1222G>A (p.Glu408Lys) single nucleotide variant Glutaric aciduria, type 1 [RCV000990158] Chr19:12897842 [GRCh38]
Chr19:13008656 [GRCh37]
Chr19:19p13.13
likely pathogenic
NM_000159.4(GCDH):c.946G>A (p.Ala316Thr) single nucleotide variant Glutaric aciduria, type 1 [RCV001247144]|Intellectual disability [RCV001252002] Chr19:12897003 [GRCh38]
Chr19:13007817 [GRCh37]
Chr19:19p13.13
likely benign|uncertain significance
NM_000159.4(GCDH):c.245G>C (p.Arg82Pro) single nucleotide variant Glutaric aciduria, type 1 [RCV001226285] Chr19:12891948 [GRCh38]
Chr19:13002762 [GRCh37]
Chr19:19p13.13
likely pathogenic
NM_000159.4(GCDH):c.860dup (p.Gly288fs) duplication Glutaric aciduria, type 1 [RCV001222475] Chr19:12896915..12896916 [GRCh38]
Chr19:13007729..13007730 [GRCh37]
Chr19:19p13.13
pathogenic
NM_000159.4(GCDH):c.1103C>A (p.Ser368Tyr) single nucleotide variant Glutaric aciduria, type 1 [RCV001224580] Chr19:12897723 [GRCh38]
Chr19:13008537 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_000159.4(GCDH):c.401A>T (p.Asp134Val) single nucleotide variant Glutaric aciduria, type 1 [RCV001246718] Chr19:12893549 [GRCh38]
Chr19:13004363 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_000159.4(GCDH):c.-47G>A single nucleotide variant Glutaric aciduria, type 1 [RCV001197962] Chr19:12891190 [GRCh38]
Chr19:13002004 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_000159.4(GCDH):c.952G>A (p.Asp318Asn) single nucleotide variant Glutaric aciduria, type 1 [RCV001242396] Chr19:12897009 [GRCh38]
Chr19:13007823 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_000159.4(GCDH):c.1207C>T (p.His403Tyr) single nucleotide variant Glutaric aciduria, type 1 [RCV000852302] Chr19:12897827 [GRCh38]
Chr19:13008641 [GRCh37]
Chr19:19p13.13
likely pathogenic
NM_000159.4(GCDH):c.*61C>T single nucleotide variant Glutaric aciduria, type 1 [RCV001124133] Chr19:12899602 [GRCh38]
Chr19:13010416 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_000159.4(GCDH):c.949C>T (p.Leu317Phe) single nucleotide variant Glutaric aciduria, type 1 [RCV001127095] Chr19:12897006 [GRCh38]
Chr19:13007820 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_000159.4(GCDH):c.596C>T (p.Ser199Leu) single nucleotide variant Glutaric aciduria, type 1 [RCV001126703] Chr19:12896082 [GRCh38]
Chr19:13006896 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_000159.4(GCDH):c.691G>A (p.Gly231Ser) single nucleotide variant Glutaric aciduria, type 1 [RCV001126704] Chr19:12896260 [GRCh38]
Chr19:13007074 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_000159.4(GCDH):c.1149C>T (p.Arg383=) single nucleotide variant Glutaric aciduria, type 1 [RCV000905873] Chr19:12897769 [GRCh38]
Chr19:13008583 [GRCh37]
Chr19:19p13.13
likely benign
NM_000159.4(GCDH):c.849G>C (p.Leu283=) single nucleotide variant not provided [RCV000952432] Chr19:12896418 [GRCh38]
Chr19:13007232 [GRCh37]
Chr19:19p13.13
likely benign
NM_000159.4(GCDH):c.1108C>T (p.Leu370=) single nucleotide variant not provided [RCV000930597] Chr19:12897728 [GRCh38]
Chr19:13008542 [GRCh37]
Chr19:19p13.13
likely benign
NM_000159.4(GCDH):c.765G>A (p.Ser255=) single nucleotide variant not provided [RCV000907335] Chr19:12896334 [GRCh38]
Chr19:13007148 [GRCh37]
Chr19:19p13.13
likely benign
NM_000159.4(GCDH):c.38G>A (p.Arg13His) single nucleotide variant Glutaric aciduria, type 1 [RCV000910751] Chr19:12891342 [GRCh38]
Chr19:13002156 [GRCh37]
Chr19:19p13.13
benign|conflicting interpretations of pathogenicity
NM_000159.4(GCDH):c.735C>T (p.Leu245=) single nucleotide variant Glutaric aciduria, type 1 [RCV000933327] Chr19:12896304 [GRCh38]
Chr19:13007118 [GRCh37]
Chr19:19p13.13
benign
NM_000159.4(GCDH):c.1082+8C>T single nucleotide variant Glutaric aciduria, type 1 [RCV001275199]|not provided [RCV000876944] Chr19:12897436 [GRCh38]
Chr19:13008250 [GRCh37]
Chr19:19p13.13
likely benign|uncertain significance
NM_000159.4(GCDH):c.771G>A (p.Arg257=) single nucleotide variant not provided [RCV000933426] Chr19:12896340 [GRCh38]
Chr19:13007154 [GRCh37]
Chr19:19p13.13
likely benign
NM_000159.4(GCDH):c.932dup (p.Ala312fs) duplication Glutaric aciduria, type 1 [RCV001214210] Chr19:12896988..12896989 [GRCh38]
Chr19:13007802..13007803 [GRCh37]
Chr19:19p13.13
pathogenic
NM_000159.4(GCDH):c.240G>C (p.Met80Ile) single nucleotide variant Glutaric aciduria, type 1 [RCV001126702] Chr19:12891943 [GRCh38]
Chr19:13002757 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_000159.4(GCDH):c.680G>A (p.Arg227Gln) single nucleotide variant Glutaric aciduria, type 1 [RCV001223617] Chr19:12896249 [GRCh38]
Chr19:13007063 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_000159.4(GCDH):c.157C>T (p.Pro53Ser) single nucleotide variant Glutaric aciduria, type 1 [RCV001245375] Chr19:12891860 [GRCh38]
Chr19:13002674 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_000159.4(GCDH):c.852+1G>A single nucleotide variant Glutaric aciduria, type 1 [RCV001238126] Chr19:12896422 [GRCh38]
Chr19:13007236 [GRCh37]
Chr19:19p13.13
likely pathogenic
NM_000159.4(GCDH):c.413G>A (p.Arg138Lys) single nucleotide variant Glutaric aciduria, type 1 [RCV001238237] Chr19:12893561 [GRCh38]
Chr19:13004375 [GRCh37]
Chr19:19p13.13
likely pathogenic
NM_000159.4(GCDH):c.848T>C (p.Leu283Pro) single nucleotide variant Glutaric aciduria, type 1 [RCV001228058] Chr19:12896417 [GRCh38]
Chr19:13007231 [GRCh37]
Chr19:19p13.13
pathogenic
NM_000159.4(GCDH):c.774C>G (p.Ala258=) single nucleotide variant not provided [RCV000912903] Chr19:12896343 [GRCh38]
Chr19:13007157 [GRCh37]
Chr19:19p13.13
likely benign
NM_000159.4(GCDH):c.861C>T (p.Phe287=) single nucleotide variant Glutaric aciduria, type 1 [RCV000912209] Chr19:12896918 [GRCh38]
Chr19:13007732 [GRCh37]
Chr19:19p13.13
likely benign
NM_000159.4(GCDH):c.1092C>T (p.Pro364=) single nucleotide variant Glutaric aciduria, type 1 [RCV000936040] Chr19:12897712 [GRCh38]
Chr19:13008526 [GRCh37]
Chr19:19p13.13
likely benign
NM_000159.4(GCDH):c.1142T>C (p.Ile381Thr) single nucleotide variant Glutaric aciduria, type 1 [RCV000990157] Chr19:12897762 [GRCh38]
Chr19:13008576 [GRCh37]
Chr19:19p13.13
likely pathogenic
NM_000159.4(GCDH):c.-50C>T single nucleotide variant Glutaric aciduria, type 1 [RCV001124036] Chr19:12891187 [GRCh38]
Chr19:13002001 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_000159.4(GCDH):c.-34-11C>A single nucleotide variant Glutaric aciduria, type 1 [RCV001124038] Chr19:12891260 [GRCh38]
Chr19:13002074 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_000159.4(GCDH):c.*96G>T single nucleotide variant Glutaric aciduria, type 1 [RCV001124134] Chr19:12899637 [GRCh38]
Chr19:13010451 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_000159.4(GCDH):c.*307G>A single nucleotide variant Glutaric aciduria, type 1 [RCV001126806] Chr19:12899848 [GRCh38]
Chr19:13010662 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_000159.4(GCDH):c.150G>C (p.Trp50Cys) single nucleotide variant Glutaric aciduria, type 1 [RCV001066989] Chr19:12891853 [GRCh38]
Chr19:13002667 [GRCh37]
Chr19:19p13.13
pathogenic
NM_000159.4(GCDH):c.876C>T (p.Asn292=) single nucleotide variant Glutaric aciduria, type 1 [RCV001127092] Chr19:12896933 [GRCh38]
Chr19:13007747 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_000159.4(GCDH):c.932C>G (p.Thr311Arg) single nucleotide variant Glutaric aciduria, type 1 [RCV001127093] Chr19:12896989 [GRCh38]
Chr19:13007803 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_000159.4(GCDH):c.945C>T (p.Tyr315=) single nucleotide variant Glutaric aciduria, type 1 [RCV001127094] Chr19:12897002 [GRCh38]
Chr19:13007816 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_000159.4(GCDH):c.109_110del (p.Gln37fs) microsatellite Glutaric aciduria, type 1 [RCV001231330] Chr19:12891501..12891502 [GRCh38]
Chr19:13002315..13002316 [GRCh37]
Chr19:19p13.13
pathogenic
NM_000159.4(GCDH):c.796A>G (p.Met266Val) single nucleotide variant Glutaric aciduria, type 1 [RCV001214424] Chr19:12896365 [GRCh38]
Chr19:13007179 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_000159.4(GCDH):c.940C>T (p.Gln314Ter) single nucleotide variant Glutaric aciduria, type 1 [RCV001231954] Chr19:12896997 [GRCh38]
Chr19:13007811 [GRCh37]
Chr19:19p13.13
pathogenic
NM_000159.4(GCDH):c.127+1G>A single nucleotide variant Glutaric aciduria, type 1 [RCV001212983] Chr19:12891523 [GRCh38]
Chr19:13002337 [GRCh37]
Chr19:19p13.13
likely pathogenic
NM_000159.4(GCDH):c.896G>A (p.Trp299Ter) single nucleotide variant Glutaric aciduria, type 1 [RCV001004412] Chr19:12896953 [GRCh38]
Chr19:13007767 [GRCh37]
Chr19:19p13.13
pathogenic
NM_000159.4(GCDH):c.478C>T (p.Gln160Ter) single nucleotide variant Glutaric aciduria, type 1 [RCV001057307] Chr19:12893626 [GRCh38]
Chr19:13004440 [GRCh37]
Chr19:19p13.13
pathogenic
NM_000159.4(GCDH):c.218C>T (p.Thr73Ile) single nucleotide variant Glutaric aciduria, type 1 [RCV001124039] Chr19:12891921 [GRCh38]
Chr19:13002735 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_000159.4(GCDH):c.481C>T (p.Arg161Trp) single nucleotide variant Glutaric aciduria, type 1 [RCV001054587] Chr19:12893629 [GRCh38]
Chr19:13004443 [GRCh37]
Chr19:19p13.13
pathogenic
NM_000159.4(GCDH):c.-69T>C single nucleotide variant Glutaric aciduria, type 1 [RCV001122970] Chr19:12891168 [GRCh38]
Chr19:13001982 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_000159.4(GCDH):c.643A>G (p.Asn215Asp) single nucleotide variant Glutaric aciduria, type 1 [RCV001069251] Chr19:12896212 [GRCh38]
Chr19:13007026 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_000159.4(GCDH):c.885C>A (p.Tyr295Ter) single nucleotide variant Glutaric aciduria, type 1 [RCV001214878] Chr19:12896942 [GRCh38]
Chr19:13007756 [GRCh37]
Chr19:19p13.13
pathogenic
NM_000159.4(GCDH):c.133C>A (p.Arg45Ser) single nucleotide variant Glutaric aciduria, type 1 [RCV001042221] Chr19:12891836 [GRCh38]
Chr19:13002650 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_000159.4(GCDH):c.428_957-39del deletion Glutaric aciduria, type 1 [RCV001042236] Chr19:12893571..12897259 [GRCh38]
Chr19:13004385..13008073 [GRCh37]
Chr19:19p13.13
pathogenic
NM_000159.4(GCDH):c.344G>A (p.Cys115Tyr) single nucleotide variant Glutaric aciduria, type 1 [RCV001070239] Chr19:12893492 [GRCh38]
Chr19:13004306 [GRCh37]
Chr19:19p13.13
pathogenic
NM_000159.4(GCDH):c.484C>G (p.Gln162Glu) single nucleotide variant Intellectual disability [RCV001252000] Chr19:12893632 [GRCh38]
Chr19:13004446 [GRCh37]
Chr19:19p13.13
likely benign
NM_000159.4(GCDH):c.1228G>A (p.Val410Met) single nucleotide variant Glutaric aciduria, type 1 [RCV001255208] Chr19:12897848 [GRCh38]
Chr19:13008662 [GRCh37]
Chr19:19p13.13
likely pathogenic
NM_000159.4(GCDH):c.1067T>A (p.Leu356Ter) single nucleotide variant Glutaric aciduria, type 1 [RCV001264325] Chr19:12897413 [GRCh38]
Chr19:13008227 [GRCh37]
Chr19:19p13.13
likely pathogenic
NM_000159.4(GCDH):c.124A>T (p.Lys42Ter) single nucleotide variant Glutaric aciduria, type 1 [RCV001264318] Chr19:12891519 [GRCh38]
Chr19:13002333 [GRCh37]
Chr19:19p13.13
likely pathogenic
NM_000159.4(GCDH):c.149G>A (p.Trp50Ter) single nucleotide variant Glutaric aciduria, type 1 [RCV001264319] Chr19:12891852 [GRCh38]
Chr19:13002666 [GRCh37]
Chr19:19p13.13
likely pathogenic
NM_000159.4(GCDH):c.229G>T (p.Glu77Ter) single nucleotide variant Glutaric aciduria, type 1 [RCV001264320] Chr19:12891932 [GRCh38]
Chr19:13002746 [GRCh37]
Chr19:19p13.13
likely pathogenic
NM_000159.4(GCDH):c.304G>T (p.Glu102Ter) single nucleotide variant Glutaric aciduria, type 1 [RCV001264321] Chr19:12892148 [GRCh38]
Chr19:13002962 [GRCh37]
Chr19:19p13.13
likely pathogenic
NM_000159.4(GCDH):c.635G>A (p.Trp212Ter) single nucleotide variant Glutaric aciduria, type 1 [RCV001264322] Chr19:12896121 [GRCh38]
Chr19:13006935 [GRCh37]
Chr19:19p13.13
likely pathogenic
NM_000159.4(GCDH):c.988C>T (p.Gln330Ter) single nucleotide variant Glutaric aciduria, type 1 [RCV001264324] Chr19:12897334 [GRCh38]
Chr19:13008148 [GRCh37]
Chr19:19p13.13
likely pathogenic
NM_000159.4(GCDH):c.907G>T (p.Gly303Ter) single nucleotide variant Glutaric aciduria, type 1 [RCV001264323] Chr19:12896964 [GRCh38]
Chr19:13007778 [GRCh37]
Chr19:19p13.13
likely pathogenic
NM_000159.4(GCDH):c.29T>C (p.Leu10Pro) single nucleotide variant Glutaric aciduria, type 1 [RCV001278556] Chr19:12891333 [GRCh38]
Chr19:13002147 [GRCh37]
Chr19:19p13.13
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4189 AgrOrtholog
COSMIC GCDH COSMIC
Ensembl Genes ENSG00000105607 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000222214 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000465618 UniProtKB/TrEMBL
  ENSP00000465770 UniProtKB/TrEMBL
  ENSP00000466845 UniProtKB/Swiss-Prot
  ENSP00000467735 UniProtKB/TrEMBL
  ENSP00000468125 UniProtKB/TrEMBL
  ENSP00000468452 UniProtKB/TrEMBL
  ENSP00000468584 UniProtKB/TrEMBL
  ENSP00000468625 UniProtKB/TrEMBL
Ensembl Transcript ENST00000222214 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000585420 ENTREZGENE
  ENST00000587072 UniProtKB/TrEMBL
  ENST00000588905 UniProtKB/TrEMBL
  ENST00000589039 UniProtKB/TrEMBL
  ENST00000590445 UniProtKB/TrEMBL
  ENST00000590472 UniProtKB/TrEMBL
  ENST00000590530 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000591050 UniProtKB/TrEMBL
  ENST00000591470 UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.540.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000105607 GTEx
HGNC ID HGNC:4189 ENTREZGENE
Human Proteome Map GCDH Human Proteome Map
InterPro Acyl-CoA_DH_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Acyl-CoA_Oxase/DH_cen-dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  AcylCo_DH-like_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  AcylCo_DH/oxidase_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  AcylCoA_DH/ox_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  AcylCoA_DH/ox_N_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  AcylCoA_DH/oxidase_NM_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:2639 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 2639 ENTREZGENE
OMIM 231670 OMIM
  608801 OMIM
Pfam Acyl-CoA_dh_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Acyl-CoA_dh_M UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Acyl-CoA_dh_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA28604 PharmGKB
PROSITE ACYL_COA_DH_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ACYL_COA_DH_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF47203 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF56645 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniGene Hs.532699 ENTREZGENE
UniProt A0A024R7F9 ENTREZGENE, UniProtKB/TrEMBL
  A0A1D6XXQ4_HUMAN UniProtKB/TrEMBL
  A0A1L3A5T2_HUMAN UniProtKB/TrEMBL
  A0A1L3A5U7_HUMAN UniProtKB/TrEMBL
  A0A2H4FWZ7_HUMAN UniProtKB/TrEMBL
  A0A2H4FX52_HUMAN UniProtKB/TrEMBL
  A0A2H4FX55_HUMAN UniProtKB/TrEMBL
  A0A2H4FX57_HUMAN UniProtKB/TrEMBL
  A0A2H4FX70_HUMAN UniProtKB/TrEMBL
  A0A2H4FX81_HUMAN UniProtKB/TrEMBL
  A0A2H4G0V0_HUMAN UniProtKB/TrEMBL
  A0A2H4G1S8_HUMAN UniProtKB/TrEMBL
  A0A2H4G235_HUMAN UniProtKB/TrEMBL
  A0A2H4G245_HUMAN UniProtKB/TrEMBL
  A0A2L2DH10_HUMAN UniProtKB/TrEMBL
  A0A2L2DH18_HUMAN UniProtKB/TrEMBL
  A0A2L2DH19_HUMAN UniProtKB/TrEMBL
  A0A2L2DH21_HUMAN UniProtKB/TrEMBL
  A0A2L2DH25_HUMAN UniProtKB/TrEMBL
  A0A2L2DH26_HUMAN UniProtKB/TrEMBL
  A0A2L2DH39_HUMAN UniProtKB/TrEMBL
  G8FL39_HUMAN UniProtKB/TrEMBL
  GCDH_HUMAN UniProtKB/Swiss-Prot
  K7EKH1_HUMAN UniProtKB/TrEMBL
  K7EKT3_HUMAN UniProtKB/TrEMBL
  K7EQ99_HUMAN UniProtKB/TrEMBL
  K7ER63_HUMAN UniProtKB/TrEMBL
  K7ERX1_HUMAN UniProtKB/TrEMBL
  K7ES74_HUMAN UniProtKB/TrEMBL
  K7ESA6_HUMAN UniProtKB/TrEMBL
  Q36741_HUMAN UniProtKB/TrEMBL
  Q92947 ENTREZGENE
UniProt Secondary A8K2Z2 UniProtKB/Swiss-Prot
  O14719 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2011-07-27 GCDH  glutaryl-CoA dehydrogenase  GCDH  glutaryl-Coenzyme A dehydrogenase  Symbol and/or name change 5135510 APPROVED