HIBCH (3-hydroxyisobutyryl-CoA hydrolase) - Rat Genome Database

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Gene: HIBCH (3-hydroxyisobutyryl-CoA hydrolase) Homo sapiens
Analyze
Symbol: HIBCH
Name: 3-hydroxyisobutyryl-CoA hydrolase
RGD ID: 1318134
HGNC Page HGNC
Description: Exhibits 3-hydroxyisobutyryl-CoA hydrolase activity. Predicted to be involved in valine catabolic process. Localizes to mitochondrion.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: 3-hydroxyisobutyryl-CoA hydrolase, mitochondrial; 3-hydroxyisobutyryl-Coenzyme A hydrolase; HIB-CoA hydrolase; HIBYL-COA-H; HIBYLCOAH; testicular tissue protein Li 86
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: AC116359.1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2190,189,735 - 190,344,193 (-)EnsemblGRCh38hg38GRCh38
GRCh382190,203,920 - 190,319,826 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh372191,068,646 - 191,184,552 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362190,777,605 - 190,892,804 (-)NCBINCBI36hg18NCBI36
Build 342190,894,866 - 191,010,065NCBI
Celera2184,664,402 - 184,779,775 (-)NCBI
Cytogenetic Map2q32.2NCBI
HuRef2182,929,253 - 183,044,631 (-)NCBIHuRef
CHM1_12191,075,217 - 191,190,581 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

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

Biological Process

Cellular Component
mitochondrial matrix  (TAS)
mitochondrion  (IBA,IDA,IEA)

Molecular Function

References

Additional References at PubMed
PMID:8125298   PMID:8824301   PMID:11580916   PMID:12477932   PMID:15342556   PMID:16344560   PMID:17160907   PMID:17474147   PMID:18187620   PMID:20000738   PMID:20877624   PMID:21873635  
PMID:22939629   PMID:23376485   PMID:24299452   PMID:26186194   PMID:26344197   PMID:27132595   PMID:27400804   PMID:28514442   PMID:29568061   PMID:31056398   PMID:31203192   PMID:31409769  
PMID:32457219   PMID:32877691  


Genomics

Comparative Map Data
HIBCH
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2190,189,735 - 190,344,193 (-)EnsemblGRCh38hg38GRCh38
GRCh382190,203,920 - 190,319,826 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh372191,068,646 - 191,184,552 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362190,777,605 - 190,892,804 (-)NCBINCBI36hg18NCBI36
Build 342190,894,866 - 191,010,065NCBI
Celera2184,664,402 - 184,779,775 (-)NCBI
Cytogenetic Map2q32.2NCBI
HuRef2182,929,253 - 183,044,631 (-)NCBIHuRef
CHM1_12191,075,217 - 191,190,581 (-)NCBICHM1_1
Hibch
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39152,884,197 - 52,960,145 (+)NCBIGRCm39mm39
GRCm39 Ensembl152,884,088 - 52,960,145 (+)Ensembl
GRCm38152,845,038 - 52,920,986 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl152,844,929 - 52,920,986 (+)EnsemblGRCm38mm10GRCm38
MGSCv37152,901,890 - 52,977,704 (+)NCBIGRCm37mm9NCBIm37
MGSCv36152,789,591 - 52,865,405 (+)NCBImm8
Celera153,386,006 - 53,461,488 (+)NCBICelera
Cytogenetic Map1C1.1NCBI
Hibch
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2948,590,097 - 48,669,896 (-)NCBI
Rnor_6.0 Ensembl953,446,194 - 53,526,728 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0953,446,185 - 53,526,727 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0953,112,579 - 53,193,190 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4945,564,702 - 45,645,252 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1945,566,124 - 45,624,624 (-)NCBI
Celera946,259,906 - 46,339,124 (-)NCBICelera
Cytogenetic Map9q22NCBI
Hibch
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554038,752,309 - 8,792,927 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554038,752,339 - 8,796,693 (+)NCBIChiLan1.0ChiLan1.0
HIBCH
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12B195,429,787 - 195,544,564 (-)NCBIpanpan1.1PanPan1.1panPan2
Mhudiblu_PPA_v02B77,510,938 - 77,652,911 (-)NCBIMhudiblu_PPA_v0panPan3
HIBCH
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.137841,385 - 943,972 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl37841,414 - 943,941 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha371,797,343 - 1,893,653 (-)NCBI
ROS_Cfam_1.037735,664 - 832,314 (-)NCBI
UMICH_Zoey_3.137746,020 - 842,670 (-)NCBI
UNSW_CanFamBas_1.037713,636 - 809,463 (-)NCBI
UU_Cfam_GSD_1.037742,338 - 838,606 (-)NCBI
Hibch
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405303148,955,211 - 149,026,449 (-)NCBI
SpeTri2.0NW_0049365067,811,624 - 7,882,861 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
HIBCH
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1594,785,453 - 94,941,381 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11594,795,744 - 94,941,362 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.215105,964,875 - 105,973,529 (-)NCBISscrofa10.2Sscrofa10.2susScr3
HIBCH
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11075,711,829 - 75,852,055 (-)NCBI
ChlSab1.1 Ensembl1075,715,996 - 75,828,310 (-)Ensembl
Hibch
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248545,705,067 - 5,770,145 (+)NCBI

Position Markers
RH93943  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372191,069,591 - 191,069,746UniSTSGRCh37
Build 362190,777,836 - 190,777,991RGDNCBI36
Celera2184,664,633 - 184,664,788RGD
Cytogenetic Map2q32.2UniSTS
HuRef2182,929,484 - 182,929,639UniSTS
GeneMap99-GB4 RH Map2614.1UniSTS
RH68886  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3752,787,443 - 2,787,587UniSTSGRCh37
GRCh372191,069,728 - 191,069,872UniSTSGRCh37
Build 362190,777,973 - 190,778,117RGDNCBI36
Celera52,819,290 - 2,819,434UniSTS
Celera2184,664,770 - 184,664,914RGD
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map2q32.2UniSTS
HuRef52,762,560 - 2,762,704UniSTS
HuRef2182,929,621 - 182,929,765UniSTS
G62842  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372191,115,683 - 191,115,978UniSTSGRCh37
Build 362190,823,928 - 190,824,223RGDNCBI36
Celera2184,710,712 - 184,711,007RGD
Cytogenetic Map2q32.2UniSTS
HuRef2182,975,558 - 182,975,853UniSTS
TNG Radiation Hybrid Map2104894.0UniSTS
RH16399  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372191,155,911 - 191,156,030UniSTSGRCh37
Build 362190,864,156 - 190,864,275RGDNCBI36
Celera2184,750,945 - 184,751,064RGD
Cytogenetic Map2q32.2UniSTS
HuRef2183,015,798 - 183,015,917UniSTS
GeneMap99-GB4 RH Map2605.07UniSTS
NCBI RH Map21500.6UniSTS
EST8H9  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3752,787,436 - 2,787,640UniSTSGRCh37
GRCh372191,069,721 - 191,069,925UniSTSGRCh37
Build 362190,777,966 - 190,778,170RGDNCBI36
Celera2184,664,763 - 184,664,967RGD
Celera52,819,283 - 2,819,487UniSTS
HuRef52,762,553 - 2,762,757UniSTS
HuRef2182,929,614 - 182,929,818UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1535
Count of miRNA genes:797
Interacting mature miRNAs:920
Transcripts:ENST00000359678, ENST00000392332, ENST00000392333, ENST00000399855, ENST00000409820, ENST00000409934, ENST00000410045, ENST00000414928, ENST00000416732, ENST00000485992, ENST00000486981, ENST00000489147, ENST00000489269, ENST00000495792
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 1410 1137 1559 464 791 394 2560 720 1570 305 1246 1073 75 740 1526 2
Low 1022 1798 164 158 1112 70 1795 1469 2138 113 203 535 96 463 1262 2
Below cutoff 49 1 45 1 4 1 1 2 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_017062 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_014362 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_198047 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011510953 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011510954 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_922903 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC010679 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC092178 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI767349 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK126890 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK222979 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK223023 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK308042 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313651 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC005190 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC067822 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI764401 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP193393 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA448468 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA453768 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471058 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB034438 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM005399 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U66669 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000359678   ⟹   ENSP00000352706
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2190,203,920 - 190,319,826 (-)Ensembl
RefSeq Acc Id: ENST00000392332   ⟹   ENSP00000376144
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2190,203,921 - 190,319,890 (-)Ensembl
RefSeq Acc Id: ENST00000392333   ⟹   ENSP00000376145
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2190,244,902 - 190,290,485 (-)Ensembl
RefSeq Acc Id: ENST00000399855   ⟹   ENSP00000398060
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2190,189,735 - 190,205,232 (-)Ensembl
RefSeq Acc Id: ENST00000409820   ⟹   ENSP00000387098
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2190,208,880 - 190,250,503 (-)Ensembl
RefSeq Acc Id: ENST00000409934   ⟹   ENSP00000387247
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2190,252,166 - 190,344,193 (-)Ensembl
RefSeq Acc Id: ENST00000410045   ⟹   ENSP00000386274
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2190,205,015 - 190,250,513 (-)Ensembl
RefSeq Acc Id: ENST00000414928   ⟹   ENSP00000414820
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2190,251,492 - 190,252,296 (-)Ensembl
RefSeq Acc Id: ENST00000416732   ⟹   ENSP00000399263
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2190,208,676 - 190,246,215 (-)Ensembl
RefSeq Acc Id: ENST00000485992
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2190,245,302 - 190,281,068 (-)Ensembl
RefSeq Acc Id: ENST00000486981
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2190,204,635 - 190,220,450 (-)Ensembl
RefSeq Acc Id: ENST00000489147
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2190,208,685 - 190,216,109 (-)Ensembl
RefSeq Acc Id: ENST00000489269
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2190,252,239 - 190,281,097 (-)Ensembl
RefSeq Acc Id: ENST00000495792
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2190,260,473 - 190,281,093 (-)Ensembl
RefSeq Acc Id: NM_014362   ⟹   NP_055177
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382190,203,920 - 190,319,826 (-)NCBI
GRCh372191,069,355 - 191,184,771 (-)NCBI
Build 362190,777,605 - 190,892,804 (-)NCBI Archive
Celera2184,664,402 - 184,779,775 (-)RGD
HuRef2182,929,253 - 183,044,631 (-)RGD
CHM1_12191,075,217 - 191,190,581 (-)NCBI
Sequence:
RefSeq Acc Id: NM_198047   ⟹   NP_932164
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382190,203,920 - 190,319,826 (-)NCBI
GRCh372191,069,355 - 191,184,771 (-)NCBI
Build 362190,777,605 - 190,892,804 (-)NCBI Archive
Celera2184,664,402 - 184,779,775 (-)RGD
HuRef2182,929,253 - 183,044,631 (-)RGD
CHM1_12191,075,217 - 191,190,581 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011510953   ⟹   XP_011509255
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382190,204,634 - 190,319,813 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011510954   ⟹   XP_011509256
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382190,204,634 - 190,281,063 (-)NCBI
Sequence:
RefSeq Acc Id: XR_922903
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382190,204,634 - 190,319,813 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_932164   ⟸   NM_198047
- Peptide Label: isoform 2 precursor
- UniProtKB: Q6NVY1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_055177   ⟸   NM_014362
- Peptide Label: isoform 1 precursor
- UniProtKB: Q6NVY1 (UniProtKB/Swiss-Prot),   A0A140VJL0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011509255   ⟸   XM_011510953
- Peptide Label: isoform X1
- UniProtKB: Q6NVY1 (UniProtKB/Swiss-Prot),   A0A140VJL0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011509256   ⟸   XM_011510954
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: ENSP00000352706   ⟸   ENST00000359678
RefSeq Acc Id: ENSP00000398060   ⟸   ENST00000399855
RefSeq Acc Id: ENSP00000386274   ⟸   ENST00000410045
RefSeq Acc Id: ENSP00000414820   ⟸   ENST00000414928
RefSeq Acc Id: ENSP00000399263   ⟸   ENST00000416732
RefSeq Acc Id: ENSP00000376145   ⟸   ENST00000392333
RefSeq Acc Id: ENSP00000376144   ⟸   ENST00000392332
RefSeq Acc Id: ENSP00000387098   ⟸   ENST00000409820
RefSeq Acc Id: ENSP00000387247   ⟸   ENST00000409934

Promoters
RGD ID:6862340
Promoter ID:EPDNEW_H4335
Type:initiation region
Name:HIBCH_1
Description:3-hydroxyisobutyryl-CoA hydrolase
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
GRCh382190,319,826 - 190,319,886EPDNEW
RGD ID:6797584
Promoter ID:HG_KWN:36374
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000409820,   NM_014362
Position:
Human AssemblyChrPosition (strand)Source
Build 362190,892,716 - 190,893,817 (-)MPROMDB
RGD ID:6852690
Promoter ID:EP74157
Type:initiation region
Name:HS_HIBCH
Description:3-hydroxyisobutyryl-Coenzyme A hydrolase.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Mammalian gene collection (MGC) full-length cDNA cloning
Position:
Human AssemblyChrPosition (strand)Source
Build 362190,892,740 - 190,892,800EPD

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_014362.4(HIBCH):c.220-9T>G single nucleotide variant Beta-hydroxyisobutyryl-CoA deacylase deficiency [RCV000001203] Chr2:190294639 [GRCh38]
Chr2:191159365 [GRCh37]
Chr2:2q32.2
pathogenic
NM_014362.4(HIBCH):c.365A>G (p.Tyr122Cys) single nucleotide variant Beta-hydroxyisobutyryl-CoA deacylase deficiency [RCV000001204]|Inborn genetic diseases [RCV000623332]|not provided [RCV000224374] Chr2:190290425 [GRCh38]
Chr2:191155151 [GRCh37]
Chr2:2q32.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_014362.4(HIBCH):c.79-3C>G single nucleotide variant Beta-hydroxyisobutyryl-CoA deacylase deficiency [RCV000001205] Chr2:190296956 [GRCh38]
Chr2:191161682 [GRCh37]
Chr2:2q32.2
pathogenic
GRCh38/hg38 2q31.1-33.2(chr2:174898848-203941548)x1 copy number loss See cases [RCV000050980] Chr2:174898848..203941548 [GRCh38]
Chr2:175763576..204806271 [GRCh37]
Chr2:175471822..204514516 [NCBI36]
Chr2:2q31.1-33.2
pathogenic
GRCh38/hg38 2q31.1-33.1(chr2:176304445-202039790)x1 copy number loss See cases [RCV000052558] Chr2:176304445..202039790 [GRCh38]
Chr2:177169173..202904513 [GRCh37]
Chr2:176877419..202612758 [NCBI36]
Chr2:2q31.1-33.1
pathogenic
GRCh38/hg38 2q31.2-33.1(chr2:177874070-198525492)x1 copy number loss See cases [RCV000052559] Chr2:177874070..198525492 [GRCh38]
Chr2:178738797..199390216 [GRCh37]
Chr2:178447043..199098461 [NCBI36]
Chr2:2q31.2-33.1
pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3 copy number gain See cases [RCV000052958] Chr2:188818195..242065208 [GRCh38]
Chr2:189682921..243007359 [GRCh37]
Chr2:189391166..242656032 [NCBI36]
Chr2:2q32.2-37.3
pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3 copy number gain See cases [RCV000052959] Chr2:190310736..241892770 [GRCh38]
Chr2:191175462..242834921 [GRCh37]
Chr2:190883707..242483594 [NCBI36]
Chr2:2q32.2-37.3
pathogenic
NM_014362.4(HIBCH):c.196C>T (p.Arg66Trp) single nucleotide variant Beta-hydroxyisobutyryl-CoA deacylase deficiency [RCV000170481] Chr2:190296836 [GRCh38]
Chr2:191161562 [GRCh37]
Chr2:2q32.2
pathogenic|uncertain significance
NM_014362.4(HIBCH):c.129dup (p.Gly44fs) duplication Beta-hydroxyisobutyryl-CoA deacylase deficiency [RCV000190537] Chr2:190296902..190296903 [GRCh38]
Chr2:191161628..191161629 [GRCh37]
Chr2:2q32.2
pathogenic
NM_014362.4(HIBCH):c.1033G>A (p.Gly345Ser) single nucleotide variant Beta-hydroxyisobutyryl-CoA deacylase deficiency [RCV000190538] Chr2:190208892 [GRCh38]
Chr2:191073618 [GRCh37]
Chr2:2q32.2
pathogenic
NM_014362.4(HIBCH):c.529G>C (p.Asp177His) single nucleotide variant Beta-hydroxyisobutyryl-CoA deacylase deficiency [RCV001333044] Chr2:190252296 [GRCh38]
Chr2:191117022 [GRCh37]
Chr2:2q32.2
uncertain significance
GRCh38/hg38 2q32.1-33.1(chr2:186027472-201059372)x1 copy number loss See cases [RCV000135876] Chr2:186027472..201059372 [GRCh38]
Chr2:186892199..201924095 [GRCh37]
Chr2:186600444..201632340 [NCBI36]
Chr2:2q32.1-33.1
pathogenic
GRCh38/hg38 2q31.3-32.3(chr2:181758701-192015392)x1 copy number loss See cases [RCV000138253] Chr2:181758701..192015392 [GRCh38]
Chr2:182623428..192880118 [GRCh37]
Chr2:182331673..192588363 [NCBI36]
Chr2:2q31.3-32.3
pathogenic
GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3 copy number gain See cases [RCV000139446] Chr2:180513793..224302848 [GRCh38]
Chr2:181378520..225167565 [GRCh37]
Chr2:181086765..224875809 [NCBI36]
Chr2:2q31.3-36.2
pathogenic
GRCh38/hg38 2q31.2-32.3(chr2:177827730-195125329)x1 copy number loss See cases [RCV000141735] Chr2:177827730..195125329 [GRCh38]
Chr2:178692457..195990053 [GRCh37]
Chr2:178400703..195698298 [NCBI36]
Chr2:2q31.2-32.3
pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3 copy number gain See cases [RCV000142307] Chr2:189436149..241841232 [GRCh38]
Chr2:190300875..242783384 [GRCh37]
Chr2:190009120..242432057 [NCBI36]
Chr2:2q32.2-37.3
pathogenic
GRCh38/hg38 2q31.1-32.3(chr2:176086763-193201970)x1 copy number loss See cases [RCV000143484] Chr2:176086763..193201970 [GRCh38]
Chr2:176951491..194066696 [GRCh37]
Chr2:176659737..193774941 [NCBI36]
Chr2:2q31.1-32.3
pathogenic
NM_014362.4(HIBCH):c.950G>A (p.Gly317Glu) single nucleotide variant Beta-hydroxyisobutyryl-CoA deacylase deficiency [RCV000167584] Chr2:190213017 [GRCh38]
Chr2:191077743 [GRCh37]
Chr2:2q32.2
pathogenic|not provided
NM_014362.4(HIBCH):c.1128dup (p.Lys377Ter) duplication Beta-hydroxyisobutyryl-CoA deacylase deficiency [RCV000201262] Chr2:190205149..190205150 [GRCh38]
Chr2:191069875..191069876 [GRCh37]
Chr2:2q32.2
pathogenic|likely pathogenic
NM_014362.4(HIBCH):c.796G>A (p.Asp266Asn) single nucleotide variant Beta-hydroxyisobutyryl-CoA deacylase deficiency [RCV001079577]|not provided [RCV000224515] Chr2:190246167 [GRCh38]
Chr2:191110893 [GRCh37]
Chr2:2q32.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 2q31.1-32.3(chr2:177315153-196375520)x1 copy number loss See cases [RCV000239432] Chr2:177315153..196375520 [GRCh37]
Chr2:2q31.1-32.3
pathogenic
NM_014362.4(HIBCH):c.830T>A (p.Val277Glu) single nucleotide variant Beta-hydroxyisobutyryl-CoA deacylase deficiency [RCV000578248] Chr2:190244948 [GRCh38]
Chr2:191109674 [GRCh37]
Chr2:2q32.2
likely pathogenic
NM_014362.4(HIBCH):c.212A>C (p.Gln71Pro) single nucleotide variant Beta-hydroxyisobutyryl-CoA deacylase deficiency [RCV000578336] Chr2:190296820 [GRCh38]
Chr2:191161546 [GRCh37]
Chr2:2q32.2
likely pathogenic
NM_014362.4(HIBCH):c.595G>T (p.Gly199Ter) single nucleotide variant Inborn genetic diseases [RCV000623387] Chr2:190252230 [GRCh38]
Chr2:191116956 [GRCh37]
Chr2:2q32.2
pathogenic
NM_014362.4(HIBCH):c.385+11del deletion not specified [RCV000603794] Chr2:190290394 [GRCh38]
Chr2:191155120 [GRCh37]
Chr2:2q32.2
benign
NM_014362.4(HIBCH):c.957A>G (p.Ser319=) single nucleotide variant Beta-hydroxyisobutyryl-CoA deacylase deficiency [RCV000884219]|not specified [RCV000600369] Chr2:190213010 [GRCh38]
Chr2:191077736 [GRCh37]
Chr2:2q32.2
benign|likely benign
NM_014362.4(HIBCH):c.1012-10T>G single nucleotide variant not specified [RCV000605801] Chr2:190208923 [GRCh38]
Chr2:191073649 [GRCh37]
Chr2:2q32.2
likely benign
NM_014362.4(HIBCH):c.214C>T (p.Leu72=) single nucleotide variant Beta-hydroxyisobutyryl-CoA deacylase deficiency [RCV000953184]|not provided [RCV001200441]|not specified [RCV000420583] Chr2:190296818 [GRCh38]
Chr2:191161544 [GRCh37]
Chr2:2q32.2
benign|likely benign
NM_014362.4(HIBCH):c.517+15T>A single nucleotide variant not specified [RCV000423700] Chr2:190261141 [GRCh38]
Chr2:191125867 [GRCh37]
Chr2:2q32.2
benign
NM_014362.4(HIBCH):c.882G>A (p.Glu294=) single nucleotide variant not specified [RCV000423723] Chr2:190244896 [GRCh38]
Chr2:191109622 [GRCh37]
Chr2:2q32.2
likely benign
NM_014362.4(HIBCH):c.1038T>A (p.Val346=) single nucleotide variant Beta-hydroxyisobutyryl-CoA deacylase deficiency [RCV000966838]|not specified [RCV000441458] Chr2:190208887 [GRCh38]
Chr2:191073613 [GRCh37]
Chr2:2q32.2
benign|likely benign
NM_014362.4(HIBCH):c.-48G>A single nucleotide variant not specified [RCV000431302] Chr2:190319798 [GRCh38]
Chr2:191184524 [GRCh37]
Chr2:2q32.2
benign
NM_014362.4(HIBCH):c.488G>C (p.Cys163Ser) single nucleotide variant Beta-hydroxyisobutyryl-CoA deacylase deficiency [RCV000956017]|not specified [RCV000420934] Chr2:190261185 [GRCh38]
Chr2:191125911 [GRCh37]
Chr2:2q32.2
benign
NM_014362.4(HIBCH):c.-44C>T single nucleotide variant not specified [RCV000418398] Chr2:190319794 [GRCh38]
Chr2:191184520 [GRCh37]
Chr2:2q32.2
likely benign
NM_014362.4(HIBCH):c.*3T>C single nucleotide variant not specified [RCV000419645] Chr2:190205114 [GRCh38]
Chr2:191069840 [GRCh37]
Chr2:2q32.2
likely benign
NM_014362.4(HIBCH):c.735A>C (p.Glu245Asp) single nucleotide variant Beta-hydroxyisobutyryl-CoA deacylase deficiency [RCV000946654]|not specified [RCV000425938] Chr2:190249655 [GRCh38]
Chr2:191114381 [GRCh37]
Chr2:2q32.2
benign
NM_014362.4(HIBCH):c.1046-8C>T single nucleotide variant not specified [RCV000436474] Chr2:190205240 [GRCh38]
Chr2:191069966 [GRCh37]
Chr2:2q32.2
likely benign
NM_014362.4(HIBCH):c.2T>C (p.Met1Thr) single nucleotide variant not provided [RCV000676752]|not specified [RCV000440239] Chr2:190319749 [GRCh38]
Chr2:191184475 [GRCh37]
Chr2:2q32.2
benign
NM_014362.4(HIBCH):c.136A>G (p.Thr46Ala) single nucleotide variant not provided [RCV000676751]|not specified [RCV000423009] Chr2:190296896 [GRCh38]
Chr2:191161622 [GRCh37]
Chr2:2q32.2
benign
NM_014362.4(HIBCH):c.663+19G>T single nucleotide variant not specified [RCV000433697] Chr2:190252143 [GRCh38]
Chr2:191116869 [GRCh37]
Chr2:2q32.2
benign|likely benign
NM_014362.4(HIBCH):c.36-13A>T single nucleotide variant not specified [RCV000426774] Chr2:190310809 [GRCh38]
Chr2:191175535 [GRCh37]
Chr2:2q32.2
likely benign
NM_014362.4(HIBCH):c.-11A>G single nucleotide variant not specified [RCV000430600] Chr2:190319761 [GRCh38]
Chr2:191184487 [GRCh37]
Chr2:2q32.2
likely benign
NM_014362.4(HIBCH):c.438+9A>T single nucleotide variant Beta-hydroxyisobutyryl-CoA deacylase deficiency [RCV000970431]|not specified [RCV000440885] Chr2:190287577 [GRCh38]
Chr2:191152303 [GRCh37]
Chr2:2q32.2
benign|likely benign
GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)x3 copy number gain See cases [RCV000448271] Chr2:169829974..215521436 [GRCh37]
Chr2:2q31.1-35
pathogenic
NM_014362.4(HIBCH):c.809+1G>A single nucleotide variant Beta-hydroxyisobutyryl-CoA deacylase deficiency [RCV000607054]|not provided [RCV000480908] Chr2:190246153 [GRCh38]
Chr2:191110879 [GRCh37]
Chr2:2q32.2
pathogenic|likely pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NM_014362.4(HIBCH):c.1117_1119AAT[1] (p.Asn374del) microsatellite not provided [RCV000479236] Chr2:190205156..190205158 [GRCh38]
Chr2:191069882..191069884 [GRCh37]
Chr2:2q32.2
likely pathogenic
NM_014362.4(HIBCH):c.35+8AG[2] microsatellite not specified [RCV000482897] Chr2:190319703..190319704 [GRCh38]
Chr2:191184429..191184430 [GRCh37]
Chr2:2q32.2
likely benign
NM_014362.4(HIBCH):c.808A>G (p.Ser270Gly) single nucleotide variant not provided [RCV000497485] Chr2:190246155 [GRCh38]
Chr2:191110881 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_014362.4(HIBCH):c.852del (p.Leu284fs) deletion Beta-hydroxyisobutyryl-CoA deacylase deficiency [RCV001195536]|not provided [RCV000493651] Chr2:190244926 [GRCh38]
Chr2:191109652 [GRCh37]
Chr2:2q32.2
pathogenic|likely pathogenic
NM_014362.4(HIBCH):c.410C>T (p.Ala137Val) single nucleotide variant Beta-hydroxyisobutyryl-CoA deacylase deficiency [RCV000491605] Chr2:190287614 [GRCh38]
Chr2:191152340 [GRCh37]
Chr2:2q32.2
pathogenic|uncertain significance
NM_014362.4(HIBCH):c.488G>T (p.Cys163Phe) single nucleotide variant not provided [RCV000493154] Chr2:190261185 [GRCh38]
Chr2:191125911 [GRCh37]
Chr2:2q32.2
pathogenic|likely pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NM_014362.4(HIBCH):c.452C>T (p.Ser151Leu) single nucleotide variant Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency [RCV000625906] Chr2:190261221 [GRCh38]
Chr2:191125947 [GRCh37]
Chr2:2q32.2
likely pathogenic
NM_014362.4(HIBCH):c.243T>G (p.Thr81=) single nucleotide variant Beta-hydroxyisobutyryl-CoA deacylase deficiency [RCV000969163]|not specified [RCV000601765] Chr2:190294607 [GRCh38]
Chr2:191159333 [GRCh37]
Chr2:2q32.2
benign|likely benign
NM_014362.4(HIBCH):c.371T>C (p.Leu124Pro) single nucleotide variant Inborn genetic diseases [RCV000624301] Chr2:190290419 [GRCh38]
Chr2:191155145 [GRCh37]
Chr2:2q32.2
likely pathogenic
NM_014362.4(HIBCH):c.438+19C>G single nucleotide variant not specified [RCV000616245] Chr2:190287567 [GRCh38]
Chr2:191152293 [GRCh37]
Chr2:2q32.2
likely benign
NM_014362.4(HIBCH):c.438+11T>G single nucleotide variant not specified [RCV000610780] Chr2:190287575 [GRCh38]
Chr2:191152301 [GRCh37]
Chr2:2q32.2
likely benign
NM_014362.4(HIBCH):c.-46T>C single nucleotide variant not specified [RCV000603682] Chr2:190319796 [GRCh38]
Chr2:191184522 [GRCh37]
Chr2:2q32.2
likely benign
NM_014362.4(HIBCH):c.891+19C>T single nucleotide variant not specified [RCV000609201] Chr2:190244868 [GRCh38]
Chr2:191109594 [GRCh37]
Chr2:2q32.2
likely benign
NM_014362.4(HIBCH):c.743A>G (p.His248Arg) single nucleotide variant Inborn genetic diseases [RCV000624273] Chr2:190249647 [GRCh38]
Chr2:191114373 [GRCh37]
Chr2:2q32.2
uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2q32.2-33.1(chr2:189490490-200615496)x1 copy number loss not provided [RCV000740789] Chr2:189490490..200615496 [GRCh37]
Chr2:2q32.2-33.1
pathogenic
Single allele duplication Neurodevelopmental disorder [RCV000787403] Chr2:188926928..225298653 [GRCh37]
Chr2:2q32.1-36.2
pathogenic
NM_014362.4(HIBCH):c.79-7T>C single nucleotide variant Beta-hydroxyisobutyryl-CoA deacylase deficiency [RCV000878992] Chr2:190296960 [GRCh38]
Chr2:191161686 [GRCh37]
Chr2:2q32.2
likely benign
NM_014362.4(HIBCH):c.330A>G (p.Lys110=) single nucleotide variant not provided [RCV000924466] Chr2:190290460 [GRCh38]
Chr2:191155186 [GRCh37]
Chr2:2q32.2
likely benign
NM_014362.4(HIBCH):c.609del (p.Gly204fs) deletion Beta-hydroxyisobutyryl-CoA deacylase deficiency [RCV000810904] Chr2:190252216 [GRCh38]
Chr2:191116942 [GRCh37]
Chr2:2q32.2
pathogenic
NM_014362.4(HIBCH):c.664-13_664-7del deletion not provided [RCV000948611] Chr2:190249733..190249739 [GRCh38]
Chr2:191114459..191114465 [GRCh37]
Chr2:2q32.2
likely benign
NM_014362.4(HIBCH):c.182C>T (p.Thr61Ile) single nucleotide variant Beta-hydroxyisobutyryl-CoA deacylase deficiency [RCV000984514] Chr2:190296850 [GRCh38]
Chr2:191161576 [GRCh37]
Chr2:2q32.2
uncertain significance
GRCh37/hg19 2q31.1-32.3(chr2:174690039-195521582)x1 copy number loss not provided [RCV001005359] Chr2:174690039..195521582 [GRCh37]
Chr2:2q31.1-32.3
pathogenic
GRCh37/hg19 2q24.3-32.3(chr2:167329586-192756373)x1 copy number loss not provided [RCV000848216] Chr2:167329586..192756373 [GRCh37]
Chr2:2q24.3-32.3
pathogenic
NM_014362.4(HIBCH):c.238G>C (p.Glu80Gln) single nucleotide variant Beta-hydroxyisobutyryl-CoA deacylase deficiency [RCV000795254] Chr2:190294612 [GRCh38]
Chr2:191159338 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_014362.4(HIBCH):c.794T>C (p.Met265Thr) single nucleotide variant Beta-hydroxyisobutyryl-CoA deacylase deficiency [RCV000795907] Chr2:190246169 [GRCh38]
Chr2:191110895 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_014362.4(HIBCH):c.885A>G (p.Gln295=) single nucleotide variant not provided [RCV000898400] Chr2:190244893 [GRCh38]
Chr2:191109619 [GRCh37]
Chr2:2q32.2
likely benign
NM_014362.4(HIBCH):c.1053T>G (p.Ile351Met) single nucleotide variant Beta-hydroxyisobutyryl-CoA deacylase deficiency [RCV000822310] Chr2:190205225 [GRCh38]
Chr2:191069951 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_014362.4(HIBCH):c.1048T>C (p.Leu350=) single nucleotide variant not provided [RCV000979275] Chr2:190205230 [GRCh38]
Chr2:191069956 [GRCh37]
Chr2:2q32.2
likely benign
NM_014362.4(HIBCH):c.1011+11A>T single nucleotide variant not provided [RCV000827387] Chr2:190212945 [GRCh38]
Chr2:191077671 [GRCh37]
Chr2:2q32.2
likely benign
NM_014362.4(HIBCH):c.517+1G>A single nucleotide variant Beta-hydroxyisobutyryl-CoA deacylase deficiency [RCV000850559] Chr2:190261155 [GRCh38]
Chr2:191125881 [GRCh37]
Chr2:2q32.2
pathogenic
NM_014362.4(HIBCH):c.353T>C (p.Phe118Ser) single nucleotide variant Beta-hydroxyisobutyryl-CoA deacylase deficiency [RCV001250091] Chr2:190290437 [GRCh38]
Chr2:191155163 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_014362.4(HIBCH):c.790C>T (p.His264Tyr) single nucleotide variant Beta-hydroxyisobutyryl-CoA deacylase deficiency [RCV001250100] Chr2:190246173 [GRCh38]
Chr2:191110899 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_014362.4(HIBCH):c.226G>A (p.Glu76Lys) single nucleotide variant Beta-hydroxyisobutyryl-CoA deacylase deficiency [RCV001241076] Chr2:190294624 [GRCh38]
Chr2:191159350 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_014362.4(HIBCH):c.457C>T (p.His153Tyr) single nucleotide variant Beta-hydroxyisobutyryl-CoA deacylase deficiency [RCV001249210] Chr2:190261216 [GRCh38]
Chr2:191125942 [GRCh37]
Chr2:2q32.2
likely pathogenic
NM_014362.4(HIBCH):c.428C>A (p.Thr143Lys) single nucleotide variant Beta-hydroxyisobutyryl-CoA deacylase deficiency [RCV001250110] Chr2:190287596 [GRCh38]
Chr2:191152322 [GRCh37]
Chr2:2q32.2
likely benign
NM_014362.4(HIBCH):c.632G>T (p.Gly211Val) single nucleotide variant Beta-hydroxyisobutyryl-CoA deacylase deficiency [RCV001250111] Chr2:190252193 [GRCh38]
Chr2:191116919 [GRCh37]
Chr2:2q32.2
likely benign
NM_014362.4(HIBCH):c.35+10A>C single nucleotide variant Beta-hydroxyisobutyryl-CoA deacylase deficiency [RCV000895216] Chr2:190319706 [GRCh38]
Chr2:191184432 [GRCh37]
Chr2:2q32.2
likely benign
NM_014362.4(HIBCH):c.438+10C>T single nucleotide variant not provided [RCV000888324] Chr2:190287576 [GRCh38]
Chr2:191152302 [GRCh37]
Chr2:2q32.2
likely benign
NM_014362.4(HIBCH):c.763C>T (p.Arg255Ter) single nucleotide variant Beta-hydroxyisobutyryl-CoA deacylase deficiency [RCV001250109] Chr2:190246200 [GRCh38]
Chr2:191110926 [GRCh37]
Chr2:2q32.2
pathogenic
NM_014362.4(HIBCH):c.835G>T (p.Glu279Ter) single nucleotide variant Beta-hydroxyisobutyryl-CoA deacylase deficiency [RCV001249211] Chr2:190244943 [GRCh38]
Chr2:191109669 [GRCh37]
Chr2:2q32.2
pathogenic
GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3 copy number gain not provided [RCV001005349] Chr2:163233162..211927188 [GRCh37]
Chr2:2q24.2-34
pathogenic
GRCh37/hg19 2q32.1-33.1(chr2:188294864-197731939)x3 copy number gain not provided [RCV001258567] Chr2:188294864..197731939 [GRCh37]
Chr2:2q32.1-33.1
likely pathogenic
GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3 copy number gain See cases [RCV001263052] Chr2:178397959..243007457 [GRCh37]
Chr2:2q31.2-37.3
pathogenic
NM_014362.4(HIBCH):c.913A>G (p.Thr305Ala) single nucleotide variant not provided [RCV001268287] Chr2:190213054 [GRCh38]
Chr2:191077780 [GRCh37]
Chr2:2q32.2
likely pathogenic
GRCh37/hg19 2q32.2-33.1(chr2:190345272-200212289) copy number loss Chromosome 2q32-q33 deletion syndrome [RCV001255693] Chr2:190345272..200212289 [GRCh37]
Chr2:2q32.2-33.1
pathogenic
NM_014362.4(HIBCH):c.856C>T (p.Gln286Ter) single nucleotide variant Beta-hydroxyisobutyryl-CoA deacylase deficiency [RCV001335656] Chr2:190244922 [GRCh38]
Chr2:191109648 [GRCh37]
Chr2:2q32.2
pathogenic
NM_014362.4(HIBCH):c.763C>G (p.Arg255Gly) single nucleotide variant Beta-hydroxyisobutyryl-CoA deacylase deficiency [RCV001335655] Chr2:190246200 [GRCh38]
Chr2:191110926 [GRCh37]
Chr2:2q32.2
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4908 AgrOrtholog
COSMIC HIBCH COSMIC
Ensembl Genes ENSG00000198130 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000352706 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000376144 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000376145 UniProtKB/TrEMBL
  ENSP00000386274 UniProtKB/TrEMBL
  ENSP00000387098 UniProtKB/TrEMBL
  ENSP00000387247 UniProtKB/TrEMBL
  ENSP00000398060 UniProtKB/TrEMBL
  ENSP00000399263 UniProtKB/TrEMBL
  ENSP00000414820 UniProtKB/TrEMBL
Ensembl Transcript ENST00000359678 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000392332 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000392333 UniProtKB/TrEMBL
  ENST00000399855 UniProtKB/TrEMBL
  ENST00000409820 UniProtKB/TrEMBL
  ENST00000409934 UniProtKB/TrEMBL
  ENST00000410045 UniProtKB/TrEMBL
  ENST00000414928 UniProtKB/TrEMBL
  ENST00000416732 UniProtKB/TrEMBL
GTEx ENSG00000198130 GTEx
HGNC ID HGNC:4908 ENTREZGENE
Human Proteome Map HIBCH Human Proteome Map
InterPro ClpP/crotonase-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HIBYL-CoA-H UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:26275 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 26275 ENTREZGENE
OMIM 250620 OMIM
  610690 OMIM
Pfam ECH_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA29281 PharmGKB
Superfamily-SCOP SSF52096 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A140VJL0 ENTREZGENE, UniProtKB/TrEMBL
  B8ZZZ0_HUMAN UniProtKB/TrEMBL
  B9A058_HUMAN UniProtKB/TrEMBL
  F8W8A6_HUMAN UniProtKB/TrEMBL
  H7BYI7_HUMAN UniProtKB/TrEMBL
  H7C126_HUMAN UniProtKB/TrEMBL
  H7C1A5_HUMAN UniProtKB/TrEMBL
  H7C400_HUMAN UniProtKB/TrEMBL
  HIBCH_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary D3DPI4 UniProtKB/Swiss-Prot
  Q53GA8 UniProtKB/Swiss-Prot
  Q53GF2 UniProtKB/Swiss-Prot
  Q53RF7 UniProtKB/Swiss-Prot
  Q53TC6 UniProtKB/Swiss-Prot
  Q92931 UniProtKB/Swiss-Prot
  Q9BS94 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2011-09-01 HIBCH  3-hydroxyisobutyryl-CoA hydrolase  HIBCH  3-hydroxyisobutyryl-CoA hydrolase  Symbol and/or name change 5135510 APPROVED
2011-07-27 HIBCH  3-hydroxyisobutyryl-CoA hydrolase  HIBCH  3-hydroxyisobutyryl-Coenzyme A hydrolase  Symbol and/or name change 5135510 APPROVED