MCCC1 (methylcrotonyl-CoA carboxylase subunit 1) - Rat Genome Database

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Gene: MCCC1 (methylcrotonyl-CoA carboxylase subunit 1) Homo sapiens
Analyze
Symbol: MCCC1
Name: methylcrotonyl-CoA carboxylase subunit 1
RGD ID: 1321620
HGNC Page HGNC
Description: Contributes to methylcrotonoyl-CoA carboxylase activity. Predicted to be involved in leucine catabolic process. Localizes to methylcrotonoyl-CoA carboxylase complex and mitochondrial matrix. Implicated in 3-Methylcrotonyl-CoA carboxylase 1 deficiency.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: 3-methylcrotonyl-CoA carboxylase 1; 3-methylcrotonyl-CoA carboxylase biotin-containing subunit; 3-methylcrotonyl-CoA:carbon dioxide ligase subunit alpha; DKFZp686B20267; FLJ25545; MCC-B; MCCA; MCCase subunit alpha; MCCCalpha; methylcrotonoyl-CoA carboxylase 1; methylcrotonoyl-CoA carboxylase 1 (alpha); methylcrotonoyl-CoA carboxylase alpha; methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial; methylcrotonoyl-Coenzyme A carboxylase 1 (alpha)
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl3183,015,218 - 183,116,075 (-)EnsemblGRCh38hg38GRCh38
GRCh383183,015,218 - 183,099,587 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh373182,733,006 - 182,817,375 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 363184,215,700 - 184,300,059 (-)NCBINCBI36hg18NCBI36
Build 343184,215,709 - 184,300,062NCBI
Celera3181,167,501 - 181,251,735 (-)NCBI
Cytogenetic Map3q27.1NCBI
HuRef3180,137,627 - 180,222,143 (-)NCBIHuRef
CHM1_13182,695,925 - 182,780,299 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

References

Additional References at PubMed
PMID:1517917   PMID:11170888   PMID:11181649   PMID:11401427   PMID:11406611   PMID:12477932   PMID:14702039   PMID:15489334   PMID:16010683   PMID:16023992   PMID:16344560   PMID:17360195  
PMID:17968484   PMID:18029348   PMID:19339287   PMID:19706617   PMID:19759019   PMID:20379614   PMID:20877624   PMID:21071250   PMID:21145461   PMID:21292315   PMID:21532586   PMID:21642987  
PMID:21738487   PMID:21873635   PMID:22150417   PMID:22189597   PMID:22264772   PMID:22869039   PMID:22939629   PMID:23496138   PMID:24078573   PMID:24457600   PMID:24755837   PMID:24816252  
PMID:25064009   PMID:25147182   PMID:25315684   PMID:25382614   PMID:25921289   PMID:26186194   PMID:26264872   PMID:26344197   PMID:26362536   PMID:26725010   PMID:26871637   PMID:26914237  
PMID:27182664   PMID:27499296   PMID:27601257   PMID:27629939   PMID:28514442   PMID:28718761   PMID:29467282   PMID:29509794   PMID:29568061   PMID:30021884   PMID:30349055   PMID:30397336  
PMID:30463901   PMID:30575818   PMID:30669930   PMID:30737378   PMID:30804502   PMID:30833792   PMID:30979931   PMID:30997501   PMID:31091453   PMID:31152661   PMID:31452512   PMID:31536960  
PMID:31730530   PMID:31901042   PMID:31995728   PMID:32203420   PMID:32529326  


Genomics

Comparative Map Data
MCCC1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl3183,015,218 - 183,116,075 (-)EnsemblGRCh38hg38GRCh38
GRCh383183,015,218 - 183,099,587 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh373182,733,006 - 182,817,375 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 363184,215,700 - 184,300,059 (-)NCBINCBI36hg18NCBI36
Build 343184,215,709 - 184,300,062NCBI
Celera3181,167,501 - 181,251,735 (-)NCBI
Cytogenetic Map3q27.1NCBI
HuRef3180,137,627 - 180,222,143 (-)NCBIHuRef
CHM1_13182,695,925 - 182,780,299 (-)NCBICHM1_1
Mccc1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39336,009,584 - 36,054,843 (-)NCBIGRCm39mm39
GRCm39 Ensembl336,013,461 - 36,054,827 (-)Ensembl
GRCm38335,956,292 - 36,000,694 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl335,959,312 - 36,000,678 (-)EnsemblGRCm38mm10GRCm38
MGSCv37335,858,218 - 35,899,600 (-)NCBIGRCm37mm9NCBIm37
MGSCv36336,151,385 - 36,192,188 (-)NCBImm8
MGSCv36335,827,354 - 35,868,158 (-)NCBImm8
Celera335,846,334 - 35,883,101 (-)NCBICelera
Cytogenetic Map3BNCBI
Mccc1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.22118,799,147 - 118,851,181 (-)NCBI
Rnor_6.0 Ensembl2122,550,775 - 122,690,617 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.02122,550,777 - 122,690,540 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.02142,300,575 - 142,317,803 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Rnor_5.02142,186,426 - 142,203,853 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42122,416,660 - 122,469,557 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.12122,361,622 - 122,414,519 (-)NCBI
Celera2113,761,210 - 113,811,967 (-)NCBICelera
Cytogenetic Map2q25NCBI
Mccc1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542011,781,104 - 11,820,338 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495542011,781,662 - 11,828,060 (-)NCBIChiLan1.0ChiLan1.0
MCCC1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.13188,217,186 - 188,300,284 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl3188,217,186 - 188,300,284 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v03180,045,592 - 180,129,988 (-)NCBIMhudiblu_PPA_v0panPan3
MCCC1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13416,022,493 - 16,084,346 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3416,022,499 - 16,084,387 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3420,111,194 - 20,173,075 (-)NCBI
ROS_Cfam_1.03415,929,888 - 15,991,791 (-)NCBI
UMICH_Zoey_3.13415,970,787 - 16,032,643 (-)NCBI
UNSW_CanFamBas_1.03415,951,431 - 16,016,266 (-)NCBI
UU_Cfam_GSD_1.03416,194,344 - 16,256,270 (-)NCBI
Mccc1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405602112,751,848 - 112,811,180 (-)NCBI
SpeTri2.0NW_004936566409,558 - 468,898 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MCCC1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl13120,912,828 - 121,106,666 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.113120,983,226 - 121,070,695 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.213130,222,439 - 130,308,733 (+)NCBISscrofa10.2Sscrofa10.2susScr3
MCCC1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1156,318,788 - 6,400,539 (+)NCBI
ChlSab1.1 Ensembl156,318,791 - 6,401,849 (+)Ensembl
Vero_WHO_p1.0NW_02366606315,121,745 - 15,202,856 (+)NCBI
Mccc1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473060,749,678 - 60,803,091 (-)NCBI

Position Markers
RH99319  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373182,733,229 - 182,733,349UniSTSGRCh37
Build 363184,215,923 - 184,216,043RGDNCBI36
Celera3181,167,724 - 181,167,844RGD
Cytogenetic Map3q27UniSTS
HuRef3180,137,850 - 180,137,970UniSTS
GeneMap99-GB4 RH Map3682.99UniSTS
RH120070  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373182,811,190 - 182,811,502UniSTSGRCh37
Build 363184,293,884 - 184,294,196RGDNCBI36
Celera3181,245,560 - 181,245,872RGD
Cytogenetic Map3q27UniSTS
HuRef3180,215,968 - 180,216,280UniSTS
TNG Radiation Hybrid Map3101176.0UniSTS
PMC199271P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373182,788,762 - 182,789,277UniSTSGRCh37
Build 363184,271,456 - 184,271,971RGDNCBI36
Celera3181,223,220 - 181,223,735RGD
Cytogenetic Map3q27UniSTS
HuRef3180,193,543 - 180,194,058UniSTS
SHGC-57632  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373182,747,632 - 182,747,721UniSTSGRCh37
Build 363184,230,326 - 184,230,415RGDNCBI36
Celera3181,181,963 - 181,182,052RGD
Cytogenetic Map3q27UniSTS
HuRef3180,152,452 - 180,152,541UniSTS
TNG Radiation Hybrid Map3101122.0UniSTS
RH36308  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373182,746,890 - 182,746,992UniSTSGRCh37
Build 363184,229,584 - 184,229,686RGDNCBI36
Celera3181,181,221 - 181,181,323RGD
Cytogenetic Map3q27UniSTS
HuRef3180,151,710 - 180,151,812UniSTS
GeneMap99-GB4 RH Map3684.81UniSTS
D10S275  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map17q24.2UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map13q12.13UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map4q32.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map1p35.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map14q22-q24UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map10p11UniSTS
Cytogenetic Map1p13.1UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map6q24UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map9q13-q21UniSTS
Cytogenetic Map3p25UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map7q22.3UniSTS
Cytogenetic Map9q22UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic MapXp22.2-p22.1UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map20pter-q11.23UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map10p12.3UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map3q26.3UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map1q24-q25.3UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map1q21.2-q21.3UniSTS
Cytogenetic Map6q25.2-q27UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map12q24.32UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map2q24.1UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map14q31UniSTS
Cytogenetic Map15q25.1UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map11p14.3UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map4q13UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map7p14.2UniSTS
Cytogenetic Map6q24.3UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map6q12-q13UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map2p22UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map2p14UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3204
Count of miRNA genes:920
Interacting mature miRNAs:1094
Transcripts:ENST00000265594, ENST00000464601, ENST00000466650, ENST00000473955, ENST00000476176, ENST00000486226, ENST00000487634, ENST00000489909, ENST00000490284, ENST00000492597, ENST00000495767, ENST00000497830, ENST00000497959, ENST00000539926
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2102 1682 1628 554 1119 401 3765 1400 2642 366 1391 1504 167 1101 2267 3 1
Low 337 1285 98 70 813 64 592 792 1092 53 69 109 8 1 103 521 3 1
Below cutoff 24 19 5

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008100 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001293273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001363880 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_020166 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_120639 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_120640 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011512992 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001740207 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001740208 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001740209 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001740210 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002959553 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002959554 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_241502 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB029826 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB209737 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC104641 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC108741 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF297332 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF310339 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF310972 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK023051 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK098411 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294882 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295293 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK316428 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL442091 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL532496 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL556872 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC004187 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC004214 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC036395 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC042453 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF795651 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR749608 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA487016 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178727 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178728 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000265594   ⟹   ENSP00000265594
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3183,015,218 - 183,099,496 (-)Ensembl
RefSeq Acc Id: ENST00000464601
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3183,015,289 - 183,022,717 (-)Ensembl
RefSeq Acc Id: ENST00000466650   ⟹   ENSP00000418979
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3183,071,048 - 183,099,530 (-)Ensembl
RefSeq Acc Id: ENST00000473955
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3183,092,373 - 183,094,607 (-)Ensembl
RefSeq Acc Id: ENST00000476176   ⟹   ENSP00000420433
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3183,020,170 - 183,099,550 (-)Ensembl
RefSeq Acc Id: ENST00000486226   ⟹   ENSP00000420223
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3183,072,427 - 183,099,495 (-)Ensembl
RefSeq Acc Id: ENST00000487634   ⟹   ENSP00000420591
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3183,071,046 - 183,099,518 (-)Ensembl
RefSeq Acc Id: ENST00000489909
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3183,022,469 - 183,037,355 (-)Ensembl
RefSeq Acc Id: ENST00000490284   ⟹   ENSP00000419328
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3183,071,006 - 183,099,523 (-)Ensembl
RefSeq Acc Id: ENST00000492597   ⟹   ENSP00000419898
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3183,015,218 - 183,116,075 (-)Ensembl
RefSeq Acc Id: ENST00000495767   ⟹   ENSP00000419658
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3183,015,551 - 183,099,518 (-)Ensembl
RefSeq Acc Id: ENST00000497830   ⟹   ENSP00000420088
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3183,015,220 - 183,099,530 (-)Ensembl
RefSeq Acc Id: ENST00000497959   ⟹   ENSP00000420648
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3183,015,289 - 183,099,243 (-)Ensembl
RefSeq Acc Id: ENST00000610757   ⟹   ENSP00000480435
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3183,015,220 - 183,099,577 (-)Ensembl
RefSeq Acc Id: ENST00000629669   ⟹   ENSP00000486824
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3183,015,220 - 183,099,577 (-)Ensembl
RefSeq Acc Id: NM_001293273   ⟹   NP_001280202
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383183,015,218 - 183,099,496 (-)NCBI
CHM1_13182,695,925 - 182,780,299 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001363880   ⟹   NP_001350809
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383183,015,218 - 183,099,587 (-)NCBI
RefSeq Acc Id: NM_020166   ⟹   NP_064551
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383183,015,218 - 183,099,496 (-)NCBI
GRCh373182,733,006 - 182,817,373 (-)NCBI
Build 363184,215,700 - 184,300,059 (-)NCBI Archive
HuRef3180,137,627 - 180,222,143 (-)ENTREZGENE
CHM1_13182,695,925 - 182,780,299 (-)NCBI
Sequence:
RefSeq Acc Id: NR_120639
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383183,015,218 - 183,099,496 (-)NCBI
CHM1_13182,695,925 - 182,780,299 (-)NCBI
Sequence:
RefSeq Acc Id: NR_120640
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383183,015,218 - 183,099,243 (-)NCBI
CHM1_13182,695,925 - 182,779,955 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011512992   ⟹   XP_011511294
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383183,015,218 - 183,099,321 (-)NCBI
Sequence:
RefSeq Acc Id: XR_001740207
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383183,015,271 - 183,099,563 (-)NCBI
Sequence:
RefSeq Acc Id: XR_001740208
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383183,015,243 - 183,099,563 (-)NCBI
Sequence:
RefSeq Acc Id: XR_001740209
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383183,015,223 - 183,099,533 (-)NCBI
Sequence:
RefSeq Acc Id: XR_001740210
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383183,015,262 - 183,099,530 (-)NCBI
Sequence:
RefSeq Acc Id: XR_002959553
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383183,029,708 - 183,099,563 (-)NCBI
Sequence:
RefSeq Acc Id: XR_002959554
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383183,025,755 - 183,099,563 (-)NCBI
Sequence:
RefSeq Acc Id: XR_241502
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383183,015,223 - 183,099,533 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_064551   ⟸   NM_020166
- Peptide Label: isoform 1 precursor
- UniProtKB: Q96RQ3 (UniProtKB/Swiss-Prot),   A0A0S2Z693 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001280202   ⟸   NM_001293273
- Peptide Label: isoform 2
- UniProtKB: Q96RQ3 (UniProtKB/Swiss-Prot),   Q68D27 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011511294   ⟸   XM_011512992
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: NP_001350809   ⟸   NM_001363880
- Peptide Label: isoform 3
RefSeq Acc Id: ENSP00000419328   ⟸   ENST00000490284
RefSeq Acc Id: ENSP00000418979   ⟸   ENST00000466650
RefSeq Acc Id: ENSP00000419898   ⟸   ENST00000492597
RefSeq Acc Id: ENSP00000480435   ⟸   ENST00000610757
RefSeq Acc Id: ENSP00000419658   ⟸   ENST00000495767
RefSeq Acc Id: ENSP00000486824   ⟸   ENST00000629669
RefSeq Acc Id: ENSP00000420648   ⟸   ENST00000497959
RefSeq Acc Id: ENSP00000420088   ⟸   ENST00000497830
RefSeq Acc Id: ENSP00000420223   ⟸   ENST00000486226
RefSeq Acc Id: ENSP00000420591   ⟸   ENST00000487634
RefSeq Acc Id: ENSP00000265594   ⟸   ENST00000265594
RefSeq Acc Id: ENSP00000420433   ⟸   ENST00000476176
Promoters
RGD ID:6866374
Promoter ID:EPDNEW_H6352
Type:initiation region
Name:MCCC1_1
Description:methylcrotonoyl-CoA carboxylase 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H6353  EPDNEW_H6354  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh383183,099,496 - 183,099,556EPDNEW
RGD ID:6866376
Promoter ID:EPDNEW_H6353
Type:initiation region
Name:MCCC1_3
Description:methylcrotonoyl-CoA carboxylase 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H6352  EPDNEW_H6354  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh383183,099,631 - 183,099,691EPDNEW
RGD ID:6801303
Promoter ID:HG_KWN:46878
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:ENST00000392616,   NM_020166,   UC003FLF.1,   UC010HXI.1
Position:
Human AssemblyChrPosition (strand)Source
Build 363184,299,836 - 184,300,336 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_020166.5(MCCC1):c.1261C>T (p.Arg421Trp) single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV000524927]|Methylcrotonyl-CoA carboxylase deficiency [RCV001275508] Chr3:183041573 [GRCh38]
Chr3:182759361 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.130_131delinsTT (p.Ala44Phe) indel 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV000530709] Chr3:183094564..183094565 [GRCh38]
Chr3:182812352..182812353 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.987_988del (p.His329fs) deletion 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV000527269] Chr3:183045508..183045509 [GRCh38]
Chr3:182763296..182763297 [GRCh37]
Chr3:3q27.1
pathogenic
NM_020166.5(MCCC1):c.1682-3A>G single nucleotide variant not provided [RCV000520630] Chr3:183025807 [GRCh38]
Chr3:182743595 [GRCh37]
Chr3:3q27.1
pathogenic
NM_020166.5(MCCC1):c.1819_1832del (p.Ser607fs) deletion 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV000543528] Chr3:183022454..183022467 [GRCh38]
Chr3:182740242..182740255 [GRCh37]
Chr3:3q27.1
pathogenic
NM_020166.5(MCCC1):c.639+2T>A single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV000532293]|Methylcrotonyl-CoA carboxylase deficiency [RCV001275517] Chr3:183071208 [GRCh38]
Chr3:182788996 [GRCh37]
Chr3:3q27.1
pathogenic
NM_020166.5(MCCC1):c.1339G>A (p.Ala447Thr) single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV000546862] Chr3:183039064 [GRCh38]
Chr3:182756852 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.974T>G (p.Met325Arg) single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV000002006]|Methylcrotonyl-CoA carboxylase deficiency [RCV000614611]|not provided [RCV000081995] Chr3:183045522 [GRCh38]
Chr3:182763310 [GRCh37]
Chr3:3q27.1
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_020166.5(MCCC1):c.1155A>C (p.Arg385Ser) single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV000002007]|Methylcrotonyl-CoA carboxylase deficiency [RCV001275509]|not provided [RCV000153465] Chr3:183041679 [GRCh38]
Chr3:182759467 [GRCh37]
Chr3:3q27.1
pathogenic
NM_020166.5(MCCC1):c.1594G>C (p.Asp532His) single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV000002008] Chr3:183037218 [GRCh38]
Chr3:182755006 [GRCh37]
Chr3:3q27.1
pathogenic
NM_020166.5(MCCC1):c.1310T>C (p.Leu437Pro) single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV000002009] Chr3:183039093 [GRCh38]
Chr3:182756881 [GRCh37]
Chr3:3q27.1
pathogenic
NM_020166.5(MCCC1):c.1604C>T (p.Ser535Phe) single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV000002010] Chr3:183034068 [GRCh38]
Chr3:182751856 [GRCh37]
Chr3:3q27.1
pathogenic
NM_020166.5(MCCC1):c.2079del (p.Thr693_Val694insTer) deletion 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV000002011]|Methylcrotonyl-CoA carboxylase deficiency [RCV001273490]|not provided [RCV000729973] Chr3:183015537 [GRCh38]
Chr3:182733325 [GRCh37]
Chr3:3q27.1
pathogenic
NM_020166.5(MCCC1):c.1380T>G (p.Ile460Met) single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV000002012] Chr3:183037432 [GRCh38]
Chr3:182755220 [GRCh37]
Chr3:3q27.1
pathogenic
NM_020166.4(MCCC1):c.370-2511A>T single nucleotide variant Lung cancer [RCV000097497] Chr3:183074998 [GRCh38]
Chr3:182792786 [GRCh37]
Chr3:3q27.1
uncertain significance
GRCh38/hg38 3q26.33-28(chr3:182678453-188418928)x1 copy number loss See cases [RCV000051607] Chr3:182678453..188418928 [GRCh38]
Chr3:182396241..188136716 [GRCh37]
Chr3:183878935..189619410 [NCBI36]
Chr3:3q26.33-28
pathogenic
GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3 copy number gain See cases [RCV000051725] Chr3:147521892..198096565 [GRCh38]
Chr3:147239679..197823436 [GRCh37]
Chr3:148722369..199307833 [NCBI36]
Chr3:3q24-29
pathogenic
GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3 copy number gain See cases [RCV000051726] Chr3:157293378..198134727 [GRCh38]
Chr3:157011167..197861598 [GRCh37]
Chr3:158493861..199345995 [NCBI36]
Chr3:3q25.31-29
pathogenic
GRCh38/hg38 3q26.32-29(chr3:178411707-198110319)x3 copy number gain See cases [RCV000051736] Chr3:178411707..198110319 [GRCh38]
Chr3:178129495..197837190 [GRCh37]
Chr3:179612189..199321587 [NCBI36]
Chr3:3q26.32-29
pathogenic
GRCh38/hg38 3q22.3-29(chr3:137126982-198110178)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051723]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051723]|See cases [RCV000051723] Chr3:137126982..198110178 [GRCh38]
Chr3:136845824..197837049 [GRCh37]
Chr3:138328514..199321446 [NCBI36]
Chr3:3q22.3-29
pathogenic
NM_020166.4(MCCC1):c.1280C>T (p.Ser427Phe) single nucleotide variant Malignant melanoma [RCV000060775] Chr3:183039123 [GRCh38]
Chr3:182756911 [GRCh37]
Chr3:184239605 [NCBI36]
Chr3:3q27.1
not provided
NM_020166.5(MCCC1):c.1074del (p.Trp358fs) deletion 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV000803322]|not provided [RCV000173882] Chr3:183045422 [GRCh38]
Chr3:182763210 [GRCh37]
Chr3:3q27.1
pathogenic
NM_020166.5(MCCC1):c.1277T>C (p.Val426Ala) single nucleotide variant not provided [RCV000174390] Chr3:183039126 [GRCh38]
Chr3:182756914 [GRCh37]
Chr3:3q27.1
likely pathogenic
NM_020166.5(MCCC1):c.1315G>A (p.Val439Met) single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV000653496]|not provided [RCV000259066] Chr3:183039088 [GRCh38]
Chr3:182756876 [GRCh37]
Chr3:3q27.1
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_020166.5(MCCC1):c.1391A>C (p.His464Pro) single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV000987368]|not specified [RCV000081992] Chr3:183037421 [GRCh38]
Chr3:182755209 [GRCh37]
Chr3:3q27.1
benign
NM_020166.5(MCCC1):c.156C>A (p.Val52=) single nucleotide variant not provided [RCV000081993] Chr3:183092526 [GRCh38]
Chr3:182810314 [GRCh37]
Chr3:3q27.1
conflicting interpretations of pathogenicity|uncertain significance
NM_020166.5(MCCC1):c.396C>T (p.Leu132=) single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV000291937]|not specified [RCV000081994] Chr3:183072461 [GRCh38]
Chr3:182790249 [GRCh37]
Chr3:3q27.1
benign
NM_020166.5(MCCC1):c.726T>C (p.Asp242=) single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV000872406]|Methylcrotonyl-CoA carboxylase deficiency [RCV001275514]|not specified [RCV000126698] Chr3:183071034 [GRCh38]
Chr3:182788822 [GRCh37]
Chr3:3q27.1
benign
NM_020166.5(MCCC1):c.-25C>A single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV001145992]|not specified [RCV000126699] Chr3:183099465 [GRCh38]
Chr3:182817253 [GRCh37]
Chr3:3q27.1
benign
NM_020166.5(MCCC1):c.2149G>A (p.Glu717Lys) single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV000872405]|Methylcrotonyl-CoA carboxylase deficiency [RCV001273489]|not specified [RCV000126700] Chr3:183015467 [GRCh38]
Chr3:182733255 [GRCh37]
Chr3:3q27.1
benign
NM_020166.5(MCCC1):c.640-2A>G single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV000179961]|Methylcrotonyl-CoA carboxylase deficiency [RCV001275516]|not provided [RCV000723408] Chr3:183071122 [GRCh38]
Chr3:182788910 [GRCh37]
Chr3:3q27.1
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_020166.5(MCCC1):c.205A>T (p.Lys69Ter) single nucleotide variant not provided [RCV000177314] Chr3:183092477 [GRCh38]
Chr3:182810265 [GRCh37]
Chr3:3q27.1
pathogenic
NM_020166.5(MCCC1):c.762G>C (p.Arg254Ser) single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV001348099] Chr3:183057422 [GRCh38]
Chr3:182775210 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.1114C>T (p.Gln372Ter) single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV000174145]|Methylcrotonyl-CoA carboxylase deficiency [RCV001275510]|not provided [RCV000723480] Chr3:183041720 [GRCh38]
Chr3:182759508 [GRCh37]
Chr3:3q27.1
pathogenic
NM_020166.5(MCCC1):c.1139A>C (p.His380Pro) single nucleotide variant not provided [RCV000174146] Chr3:183041695 [GRCh38]
Chr3:182759483 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.1700C>T (p.Thr567Met) single nucleotide variant not provided [RCV000174941] Chr3:183025786 [GRCh38]
Chr3:182743574 [GRCh37]
Chr3:3q27.1
uncertain significance
GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3 copy number gain See cases [RCV000134948] Chr3:103426882..198110178 [GRCh38]
Chr3:103145726..197837049 [GRCh37]
Chr3:104628416..199321446 [NCBI36]
Chr3:3q13.11-29
pathogenic
GRCh38/hg38 3q26.2-29(chr3:168167568-198110178)x3 copy number gain See cases [RCV000137106] Chr3:168167568..198110178 [GRCh38]
Chr3:167885356..197837049 [GRCh37]
Chr3:169368050..199321446 [NCBI36]
Chr3:3q26.2-29
pathogenic
GRCh38/hg38 3q26.32-29(chr3:176439911-198118383)x3 copy number gain See cases [RCV000138009] Chr3:176439911..198118383 [GRCh38]
Chr3:176157699..197845254 [GRCh37]
Chr3:177640393..199329651 [NCBI36]
Chr3:3q26.32-29
pathogenic|likely benign
GRCh38/hg38 3q26.32-29(chr3:176168525-198118383)x3 copy number gain See cases [RCV000138662] Chr3:176168525..198118383 [GRCh38]
Chr3:175886313..197845254 [GRCh37]
Chr3:177369007..199329651 [NCBI36]
Chr3:3q26.32-29
pathogenic
GRCh38/hg38 3q26.33-27.1(chr3:182865842-183895718)x3 copy number gain See cases [RCV000138425] Chr3:182865842..183895718 [GRCh38]
Chr3:182583630..183613506 [GRCh37]
Chr3:184066324..185096200 [NCBI36]
Chr3:3q26.33-27.1
uncertain significance
GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3 copy number gain See cases [RCV000139435] Chr3:152100512..198118383 [GRCh38]
Chr3:151818301..197845254 [GRCh37]
Chr3:153300991..199329651 [NCBI36]
Chr3:3q25.1-29
pathogenic
GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3 copy number gain See cases [RCV000140849] Chr3:156321878..198113452 [GRCh38]
Chr3:156039667..197840323 [GRCh37]
Chr3:157522361..199324720 [NCBI36]
Chr3:3q25.31-29
pathogenic
GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3 copy number gain See cases [RCV000142310] Chr3:156118441..198125115 [GRCh38]
Chr3:155836230..197851986 [GRCh37]
Chr3:157318924..199336383 [NCBI36]
Chr3:3q25.31-29
pathogenic
GRCh38/hg38 3q26.33-27.3(chr3:182319764-186443121)x1 copy number loss See cases [RCV000142154] Chr3:182319764..186443121 [GRCh38]
Chr3:182037552..186160910 [GRCh37]
Chr3:183520246..187643604 [NCBI36]
Chr3:3q26.33-27.3
likely pathogenic
GRCh38/hg38 3q26.1-28(chr3:167717962-188365272)x3 copy number gain See cases [RCV000142107] Chr3:167717962..188365272 [GRCh38]
Chr3:167435750..188083060 [GRCh37]
Chr3:168918444..189565754 [NCBI36]
Chr3:3q26.1-28
likely pathogenic
GRCh38/hg38 3q26.33-28(chr3:181138664-192512023)x1 copy number loss See cases [RCV000142019] Chr3:181138664..192512023 [GRCh38]
Chr3:180856452..192229812 [GRCh37]
Chr3:182339146..193712506 [NCBI36]
Chr3:3q26.33-28
pathogenic
GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3 copy number gain See cases [RCV000143694] Chr3:166137209..198125115 [GRCh38]
Chr3:165854997..197851986 [GRCh37]
Chr3:167337691..199336383 [NCBI36]
Chr3:3q26.1-29
pathogenic
NM_020166.5(MCCC1):c.1614G>A (p.Ser538=) single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV000554672]|Methylcrotonyl-CoA carboxylase deficiency [RCV001273491]|not specified [RCV000153462] Chr3:183034058 [GRCh38]
Chr3:182751846 [GRCh37]
Chr3:3q27.1
benign|likely benign|uncertain significance
NM_020166.5(MCCC1):c.1905del (p.Lys635fs) deletion 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV001231585]|not provided [RCV000175221] Chr3:183020202 [GRCh38]
Chr3:182737990 [GRCh37]
Chr3:3q27.1
pathogenic
NM_020166.5(MCCC1):c.1526del (p.Cys509fs) deletion 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV000174585]|Methylcrotonyl-CoA carboxylase deficiency [RCV001273492]|not provided [RCV000790695] Chr3:183037286 [GRCh38]
Chr3:182755074 [GRCh37]
Chr3:3q27.1
pathogenic
NM_020166.5(MCCC1):c.1399A>T (p.Ile467Phe) single nucleotide variant not provided [RCV000153464] Chr3:183037413 [GRCh38]
Chr3:182755201 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.873G>A (p.Ala291=) single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV000533988]|Methylcrotonyl-CoA carboxylase deficiency [RCV001275511]|not provided [RCV000153466] Chr3:183057311 [GRCh38]
Chr3:182775099 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.694C>T (p.Arg232Trp) single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV001056550]|not provided [RCV000153467] Chr3:183071066 [GRCh38]
Chr3:182788854 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.640-1G>A single nucleotide variant not provided [RCV000179962] Chr3:183071121 [GRCh38]
Chr3:182788909 [GRCh37]
Chr3:3q27.1
pathogenic
NM_020166.5(MCCC1):c.137-2A>G single nucleotide variant not provided [RCV000153469] Chr3:183092547 [GRCh38]
Chr3:182810335 [GRCh37]
Chr3:3q27.1
pathogenic
NM_020166.4(MCCC1):c.380C>T (p.Pro127Leu) single nucleotide variant not provided [RCV000185988] Chr3:183072477 [GRCh38]
Chr3:182790265 [GRCh37]
Chr3:3q27.1
likely pathogenic
NM_020166.5(MCCC1):c.841C>T (p.Arg281Ter) single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV000281372]|Methylcrotonyl-CoA carboxylase deficiency [RCV001275513]|not provided [RCV000725859] Chr3:183057343 [GRCh38]
Chr3:182775131 [GRCh37]
Chr3:3q27.1
pathogenic
NM_020166.5(MCCC1):c.1331G>A (p.Arg444His) single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV000808142]|Methylcrotonyl-CoA carboxylase deficiency [RCV001275506] Chr3:183039072 [GRCh38]
Chr3:182756860 [GRCh37]
Chr3:3q27.1
likely pathogenic|uncertain significance
NM_020166.5(MCCC1):c.137G>A (p.Gly46Glu) single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV000554762]|not provided [RCV000185992] Chr3:183092545 [GRCh38]
Chr3:182810333 [GRCh37]
Chr3:3q27.1
pathogenic|uncertain significance
NM_020166.5(MCCC1):c.1191_1192TG[1] (p.Val398fs) microsatellite 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV000687710]|not provided [RCV000185993] Chr3:183041640..183041641 [GRCh38]
Chr3:182759428..182759429 [GRCh37]
Chr3:3q27.1
pathogenic
NM_020166.5(MCCC1):c.1363del (p.Leu455fs) deletion not provided [RCV000185994] Chr3:183039040 [GRCh38]
Chr3:182756828 [GRCh37]
Chr3:3q27.1
pathogenic
NM_020166.5(MCCC1):c.2085del (p.Val697fs) deletion not provided [RCV000185995] Chr3:183015531 [GRCh38]
Chr3:182733319 [GRCh37]
Chr3:3q27.1
pathogenic
NM_020166.4(MCCC1):c.161T>C (p.Ile54Thr) single nucleotide variant not provided [RCV000185996] Chr3:183092521 [GRCh38]
Chr3:182810309 [GRCh37]
Chr3:3q27.1
likely pathogenic
NM_020166.5(MCCC1):c.425_427delinsAC (p.Cys142fs) indel 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV001246334] Chr3:183072430..183072432 [GRCh38]
Chr3:182790218..182790220 [GRCh37]
Chr3:3q27.1
pathogenic
NM_020166.5(MCCC1):c.980C>G (p.Ser327Ter) single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV000705149]|not provided [RCV000255554] Chr3:183045516 [GRCh38]
Chr3:182763304 [GRCh37]
Chr3:3q27.1
pathogenic
NM_020166.5(MCCC1):c.1225C>T (p.Arg409Ter) single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV000653486]|not provided [RCV000579365] Chr3:183041609 [GRCh38]
Chr3:182759397 [GRCh37]
Chr3:3q27.1
pathogenic
NM_020166.5(MCCC1):c.131C>T (p.Ala44Val) single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV000286213] Chr3:183094564 [GRCh38]
Chr3:182812352 [GRCh37]
Chr3:3q27.1
uncertain significance
GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4 copy number gain See cases [RCV000240256] Chr3:142995020..192997215 [GRCh37]
Chr3:3q24-29
pathogenic
NM_020166.5(MCCC1):c.491+35G>A single nucleotide variant not specified [RCV000253489] Chr3:183072331 [GRCh38]
Chr3:182790119 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.231G>A (p.Ala77=) single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV000653498]|not specified [RCV000253593] Chr3:183092451 [GRCh38]
Chr3:182810239 [GRCh37]
Chr3:3q27.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020166.5(MCCC1):c.1772G>A (p.Ser591Asn) single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV000653489]|not specified [RCV000249040] Chr3:183022514 [GRCh38]
Chr3:182740302 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1594+39T>C single nucleotide variant not specified [RCV000253943] Chr3:183037179 [GRCh38]
Chr3:182754967 [GRCh37]
Chr3:3q27.1
benign
NM_020166.5(MCCC1):c.-24A>G single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV001145991]|not specified [RCV000249369] Chr3:183099464 [GRCh38]
Chr3:182817252 [GRCh37]
Chr3:3q27.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_020166.5(MCCC1):c.491+36A>G single nucleotide variant not specified [RCV000245080] Chr3:183072330 [GRCh38]
Chr3:182790118 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.273+32C>T single nucleotide variant not specified [RCV000245612] Chr3:183092377 [GRCh38]
Chr3:182810165 [GRCh37]
Chr3:3q27.1
benign
NM_020166.5(MCCC1):c.768A>G (p.Val256=) single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV000332695] Chr3:183057416 [GRCh38]
Chr3:182775204 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.1499G>A (p.Arg500Gln) single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV000870840]|Methylcrotonyl-CoA carboxylase deficiency [RCV001275505]|not specified [RCV000610205] Chr3:183037313 [GRCh38]
Chr3:182755101 [GRCh37]
Chr3:3q27.1
benign|likely benign|uncertain significance
NM_020166.5(MCCC1):c.2050-6_2050-5del microsatellite 3-MCC Deficiency [RCV000301936] Chr3:183015571..183015572 [GRCh38]
Chr3:182733359..182733360 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_001363880.1(MCCC1):c.-292C>A single nucleotide variant 3-MCC Deficiency [RCV000356233] Chr3:183099542 [GRCh38]
Chr3:182817330 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.1339G>T (p.Ala447Ser) single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV000319936] Chr3:183039064 [GRCh38]
Chr3:182756852 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.1894C>T (p.Pro632Ser) single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV000509185] Chr3:183020213 [GRCh38]
Chr3:182738001 [GRCh37]
Chr3:3q27.1
uncertain significance|not provided
NM_020166.5(MCCC1):c.2171C>T (p.Ser724Leu) single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV000403506] Chr3:183015445 [GRCh38]
Chr3:182733233 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.388G>A (p.Gly130Ser) single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV000685415] Chr3:183072469 [GRCh38]
Chr3:182790257 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_001363880.1(MCCC1):c.-322C>T single nucleotide variant 3-MCC Deficiency [RCV000405482] Chr3:183099572 [GRCh38]
Chr3:182817360 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.623G>A (p.Arg208Gln) single nucleotide variant 3-MCC Deficiency [RCV000383858] Chr3:183071226 [GRCh38]
Chr3:182789014 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.1281C>T (p.Ser427=) single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV000952231] Chr3:183039122 [GRCh38]
Chr3:182756910 [GRCh37]
Chr3:3q27.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020166.5(MCCC1):c.*45A>T single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV000307889] Chr3:183015393 [GRCh38]
Chr3:182733181 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.-23C>T single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV000343523] Chr3:183099463 [GRCh38]
Chr3:182817251 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.639+13A>G single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV000327075] Chr3:183071197 [GRCh38]
Chr3:182788985 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.*1A>T single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV000346325]|not specified [RCV000443960] Chr3:183015437 [GRCh38]
Chr3:182733225 [GRCh37]
Chr3:3q27.1
likely benign|uncertain significance
NM_001363880.1(MCCC1):c.-290G>C single nucleotide variant 3-MCC Deficiency [RCV000392572] Chr3:183099540 [GRCh38]
Chr3:182817328 [GRCh37]
Chr3:3q27.1
benign
NM_020166.5(MCCC1):c.994T>G (p.Cys332Gly) single nucleotide variant 3-MCC Deficiency [RCV000275319] Chr3:183045502 [GRCh38]
Chr3:182763290 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.1724G>A (p.Ser575Asn) single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV000266673] Chr3:183025762 [GRCh38]
Chr3:182743550 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.1427A>T (p.His476Leu) single nucleotide variant Methylcrotonyl-CoA carboxylase deficiency [RCV001280055] Chr3:183037385 [GRCh38]
Chr3:182755173 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.362C>T (p.Ala121Val) single nucleotide variant Methylcrotonyl-CoA carboxylase deficiency [RCV001277564] Chr3:183086700 [GRCh38]
Chr3:182804488 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.1259T>C (p.Val420Ala) single nucleotide variant Methylcrotonyl-CoA carboxylase deficiency [RCV001277557] Chr3:183041575 [GRCh38]
Chr3:182759363 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.387C>T (p.Cys129=) single nucleotide variant Methylcrotonyl-CoA carboxylase deficiency [RCV001277562] Chr3:183072470 [GRCh38]
Chr3:182790258 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.208A>G (p.Lys70Glu) single nucleotide variant Methylcrotonyl-CoA carboxylase deficiency [RCV001277566] Chr3:183092474 [GRCh38]
Chr3:182810262 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.1048A>G (p.Ile350Val) single nucleotide variant Methylcrotonyl-CoA carboxylase deficiency [RCV001277558] Chr3:183045448 [GRCh38]
Chr3:182763236 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.863A>G (p.Glu288Gly) single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV000549808]|Methylcrotonyl-CoA carboxylase deficiency [RCV001275512] Chr3:183057321 [GRCh38]
Chr3:182775109 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.729T>C (p.Ala243=) single nucleotide variant 3-MCC Deficiency [RCV000389538] Chr3:183071031 [GRCh38]
Chr3:182788819 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.640_641delGG deletion 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV000288396]|Methylcrotonyl-CoA carboxylase deficiency [RCV001275515]|not provided [RCV000592355] Chr3:183071119..183071120 [GRCh38]
Chr3:182788907..182788908 [GRCh37]
Chr3:3q27.1
pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001363880.1(MCCC1):c.-291C>T single nucleotide variant 3-MCC Deficiency [RCV000299144] Chr3:183099541 [GRCh38]
Chr3:182817329 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.136+7A>G single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV000942129]|not specified [RCV000600326] Chr3:183094552 [GRCh38]
Chr3:182812340 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.169_170AG[1] (p.Gly58fs) microsatellite 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV000531058] Chr3:183092510..183092511 [GRCh38]
Chr3:182810298..182810299 [GRCh37]
Chr3:3q27.1
pathogenic
NM_020166.5(MCCC1):c.1930G>T (p.Glu644Ter) single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV000653488]|not provided [RCV000599442] Chr3:183020177 [GRCh38]
Chr3:182737965 [GRCh37]
Chr3:3q27.1
pathogenic
NM_020166.5(MCCC1):c.1973_1977+28del deletion 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV000591068]|not provided [RCV000726783] Chr3:183020102..183020134 [GRCh38]
Chr3:182737890..182737922 [GRCh37]
Chr3:3q27.1
pathogenic|likely pathogenic
NM_020166.5(MCCC1):c.794A>G (p.His265Arg) single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV000625857] Chr3:183057390 [GRCh38]
Chr3:182775178 [GRCh37]
Chr3:3q27.1
uncertain significance
NC_000003.11:g.182759359C>CC single nucleotide variant not provided [RCV000730035] Chr3:182759359 [GRCh37]
Chr3:3q27.1
pathogenic
GRCh37/hg19 3q27.1(chr3:182746355-182804565)x1 copy number loss See cases [RCV000449241] Chr3:182746355..182804565 [GRCh37]
Chr3:3q27.1
uncertain significance
GRCh37/hg19 3q25.32-29(chr3:158980631-197766890)x3 copy number gain See cases [RCV000447464] Chr3:158980631..197766890 [GRCh37]
Chr3:3q25.32-29
pathogenic
GRCh37/hg19 3q26.33-27.1(chr3:182513778-182737878)x3 copy number gain See cases [RCV000446105] Chr3:182513778..182737878 [GRCh37]
Chr3:3q26.33-27.1
likely benign
GRCh37/hg19 3q26.33-29(chr3:181911498-197851986)x4 copy number gain See cases [RCV000446732] Chr3:181911498..197851986 [GRCh37]
Chr3:3q26.33-29
pathogenic
GRCh37/hg19 3q27.1(chr3:182737878-182814840)x3 copy number gain See cases [RCV000447165] Chr3:182737878..182814840 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1341A>G (p.Ala447=) single nucleotide variant not specified [RCV000434940] Chr3:183039062 [GRCh38]
Chr3:182756850 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1941C>A (p.Gly647=) single nucleotide variant not specified [RCV000431906] Chr3:183020166 [GRCh38]
Chr3:182737954 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.438A>G (p.Gly146=) single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV000893643]|not specified [RCV000438820] Chr3:183072419 [GRCh38]
Chr3:182790207 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.136+19G>T single nucleotide variant not specified [RCV000428543] Chr3:183094540 [GRCh38]
Chr3:182812328 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.-42C>T single nucleotide variant not specified [RCV000435590] Chr3:183099482 [GRCh38]
Chr3:182817270 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1732-9T>A single nucleotide variant not provided [RCV000874402]|not specified [RCV000425410] Chr3:183022563 [GRCh38]
Chr3:182740351 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1860A>G (p.Leu620=) single nucleotide variant not specified [RCV000425446] Chr3:183022426 [GRCh38]
Chr3:182740214 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.267A>C (p.Val89=) single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV000968567]|not specified [RCV000429850] Chr3:183092415 [GRCh38]
Chr3:182810203 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.945T>C (p.Tyr315=) single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV000877301]|not specified [RCV000436986] Chr3:183052169 [GRCh38]
Chr3:182769957 [GRCh37]
Chr3:3q27.1
benign|likely benign
NM_020166.5(MCCC1):c.168C>G (p.Asn56Lys) single nucleotide variant not provided [RCV000441741] Chr3:183092514 [GRCh38]
Chr3:182810302 [GRCh37]
Chr3:3q27.1
pathogenic
Single allele duplication Currarino triad [RCV000417195] Chr3:177772523..185716872 [GRCh38]
Chr3:3q26.32-27.2
likely pathogenic
GRCh37/hg19 3q25.2-29(chr3:152356847-197851986)x3 copy number gain See cases [RCV000448608] Chr3:152356847..197851986 [GRCh37]
Chr3:3q25.2-29
pathogenic
NM_020166.5(MCCC1):c.*15_*40del deletion not specified [RCV000479486] Chr3:183015398..183015423 [GRCh38]
Chr3:182733186..182733211 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1792C>A (p.Leu598Met) single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV000765716]|not provided [RCV000482746] Chr3:183022494 [GRCh38]
Chr3:182740282 [GRCh37]
Chr3:3q27.1
conflicting interpretations of pathogenicity|uncertain significance
NM_020166.5(MCCC1):c.1701G>A (p.Thr567=) single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV000502051] Chr3:183025785 [GRCh38]
Chr3:182743573 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.359C>T (p.Ser120Phe) single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV000814269]|not provided [RCV000498532] Chr3:183086703 [GRCh38]
Chr3:182804491 [GRCh37]
Chr3:3q27.1
likely pathogenic|uncertain significance
NM_020166.5(MCCC1):c.1330C>T (p.Arg444Cys) single nucleotide variant not provided [RCV000493467] Chr3:183039073 [GRCh38]
Chr3:182756861 [GRCh37]
Chr3:3q27.1
likely pathogenic
NM_020166.5(MCCC1):c.945T>A (p.Tyr315Ter) single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV000763509]|not provided [RCV000578625] Chr3:183052169 [GRCh38]
Chr3:182769957 [GRCh37]
Chr3:3q27.1
pathogenic
NM_020166.5(MCCC1):c.1263dup (p.Gln422fs) duplication 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV000541919]|not provided [RCV000730035] Chr3:183041570..183041571 [GRCh38]
Chr3:182759358..182759359 [GRCh37]
Chr3:3q27.1
pathogenic
NM_020166.5(MCCC1):c.2030T>G (p.Met677Arg) single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV000560770] Chr3:183017285 [GRCh38]
Chr3:182735073 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.1083+10dup duplication not specified [RCV000599638] Chr3:183045397..183045398 [GRCh38]
Chr3:182763185..182763186 [GRCh37]
Chr3:3q27.1
likely benign
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 copy number gain See cases [RCV000511055] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29
pathogenic
NM_020166.5(MCCC1):c.1338G>A (p.Ala446=) single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV000913446]|not specified [RCV000602187] Chr3:183039065 [GRCh38]
Chr3:182756853 [GRCh37]
Chr3:3q27.1
likely benign
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) copy number gain See cases [RCV000512358] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29
pathogenic
NM_020166.5(MCCC1):c.758C>T (p.Pro253Leu) single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV000537046] Chr3:183071002 [GRCh38]
Chr3:182788790 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.1731+6C>A single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV000818682]|not specified [RCV000601556] Chr3:183025749 [GRCh38]
Chr3:182743537 [GRCh37]
Chr3:3q27.1
likely benign|uncertain significance
NM_020166.5(MCCC1):c.738C>T (p.Ile246=) single nucleotide variant not specified [RCV000616125] Chr3:183071022 [GRCh38]
Chr3:182788810 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.2051A>G (p.His684Arg) single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV000653491] Chr3:183015565 [GRCh38]
Chr3:182733353 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.1679dup (p.Asn560fs) duplication 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV000653492] Chr3:183033992..183033993 [GRCh38]
Chr3:182751780..182751781 [GRCh37]
Chr3:3q27.1
pathogenic
NM_020166.5(MCCC1):c.196C>T (p.Arg66Cys) single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV000653493] Chr3:183092486 [GRCh38]
Chr3:182810274 [GRCh37]
Chr3:3q27.1
likely pathogenic|uncertain significance
NM_020166.5(MCCC1):c.1632A>C (p.Arg544Ser) single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV000653494] Chr3:183034040 [GRCh38]
Chr3:182751828 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.1A>G (p.Met1Val) single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV000653495] Chr3:183099440 [GRCh38]
Chr3:182817228 [GRCh37]
Chr3:3q27.1
likely pathogenic
NM_020166.5(MCCC1):c.1153A>G (p.Arg385Gly) single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV000653497] Chr3:183041681 [GRCh38]
Chr3:182759469 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.1658T>A (p.Met553Lys) single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV000653487] Chr3:183034014 [GRCh38]
Chr3:182751802 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.874-12dup duplication not specified [RCV000610636] Chr3:183052245..183052246 [GRCh38]
Chr3:182770033..182770034 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.-43_-40del deletion not specified [RCV000613804] Chr3:183099480..183099483 [GRCh38]
Chr3:182817268..182817271 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.872C>T (p.Ala291Val) single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV000557663]|not provided [RCV000723424] Chr3:183057312 [GRCh38]
Chr3:182775100 [GRCh37]
Chr3:3q27.1
pathogenic|likely pathogenic|uncertain significance
NM_020166.5(MCCC1):c.231G>T (p.Ala77=) single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV000877013]|not specified [RCV000609231] Chr3:183092451 [GRCh38]
Chr3:182810239 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.239G>A (p.Ser80Asn) single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV000625892] Chr3:183092443 [GRCh38]
Chr3:182810231 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.69G>C (p.Pro23=) single nucleotide variant not specified [RCV000602346] Chr3:183099372 [GRCh38]
Chr3:182817160 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.676G>T (p.Glu226Ter) single nucleotide variant not provided [RCV000627283] Chr3:183071084 [GRCh38]
Chr3:182788872 [GRCh37]
Chr3:3q27.1
likely pathogenic
GRCh37/hg19 3q26.33-29(chr3:182539234-197851986)x3 copy number gain not provided [RCV000682336] Chr3:182539234..197851986 [GRCh37]
Chr3:3q26.33-29
pathogenic
GRCh37/hg19 3q26.33-28(chr3:182650681-191275809)x1 copy number loss not provided [RCV000682337] Chr3:182650681..191275809 [GRCh37]
Chr3:3q26.33-28
pathogenic
NM_020166.5(MCCC1):c.1222C>T (p.Pro408Ser) single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV000698666] Chr3:183041612 [GRCh38]
Chr3:182759400 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.842G>A (p.Arg281Gln) single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV000686996] Chr3:183057342 [GRCh38]
Chr3:182775130 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.137-10T>G single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV000704069] Chr3:183092555 [GRCh38]
Chr3:182810343 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.343C>T (p.Gln115Ter) single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV000690996] Chr3:183086719 [GRCh38]
Chr3:182804507 [GRCh37]
Chr3:3q27.1
pathogenic
NM_020166.5(MCCC1):c.1942G>A (p.Gly648Ser) single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV000685336]|Methylcrotonyl-CoA carboxylase deficiency [RCV001273450] Chr3:183020165 [GRCh38]
Chr3:182737953 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.1422_1426delinsAA (p.Gly475_His476delinsAsn) indel 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV000685364] Chr3:183037386..183037390 [GRCh38]
Chr3:182755174..182755178 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.295G>C (p.Gly99Arg) single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV000685787] Chr3:183086767 [GRCh38]
Chr3:182804555 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.626G>A (p.Gly209Asp) single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV000689580] Chr3:183071223 [GRCh38]
Chr3:182789011 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.739_742delinsATAGCATAGC (p.Glu247_Lys248delinsIleAlaTer) indel 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV000704278] Chr3:183071018..183071021 [GRCh38]
Chr3:182788806..182788809 [GRCh37]
Chr3:3q27.1
pathogenic
NM_020166.5(MCCC1):c.559T>C (p.Ser187Pro) single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV000702398]|not provided [RCV000727584] Chr3:183071290 [GRCh38]
Chr3:182789078 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.1257_1263del (p.Val420fs) deletion 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV000695486] Chr3:183041571..183041577 [GRCh38]
Chr3:182759359..182759365 [GRCh37]
Chr3:3q27.1
pathogenic
NM_020166.5(MCCC1):c.641G>A (p.Gly214Glu) single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV000691200] Chr3:183071119 [GRCh38]
Chr3:182788907 [GRCh37]
Chr3:3q27.1
uncertain significance
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 copy number gain not provided [RCV000742138] Chr3:61495..197838262 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 copy number gain not provided [RCV000742133] Chr3:60174..197948027 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3q26.31-29(chr3:173281266-197838262)x3 copy number gain not provided [RCV000742968] Chr3:173281266..197838262 [GRCh37]
Chr3:3q26.31-29
pathogenic
NM_020166.5(MCCC1):c.1416C>T (p.Asn472=) single nucleotide variant not provided [RCV000877590] Chr3:183037396 [GRCh38]
Chr3:182755184 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1833G>T (p.Leu611=) single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV000983084] Chr3:183022453 [GRCh38]
Chr3:182740241 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1839C>A (p.Ile613=) single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV000898868] Chr3:183022447 [GRCh38]
Chr3:182740235 [GRCh37]
Chr3:3q27.1
likely benign|conflicting interpretations of pathogenicity
NM_020166.5(MCCC1):c.1695T>C (p.Ala565=) single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV000981381] Chr3:183025791 [GRCh38]
Chr3:182743579 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.678A>G (p.Glu226=) single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV000981382] Chr3:183071082 [GRCh38]
Chr3:182788870 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.300C>G (p.Pro100=) single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV001273453]|not provided [RCV000982715] Chr3:183086762 [GRCh38]
Chr3:182804550 [GRCh37]
Chr3:3q27.1
likely benign|uncertain significance
NM_020166.5(MCCC1):c.2085G>A (p.Lys695=) single nucleotide variant not provided [RCV000944270] Chr3:183015531 [GRCh38]
Chr3:182733319 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1486T>C (p.Leu496=) single nucleotide variant not provided [RCV000927071] Chr3:183037326 [GRCh38]
Chr3:182755114 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1356G>A (p.Arg452=) single nucleotide variant not provided [RCV000976448] Chr3:183039047 [GRCh38]
Chr3:182756835 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1851T>C (p.Thr617=) single nucleotide variant not provided [RCV000922338] Chr3:183022435 [GRCh38]
Chr3:182740223 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.81G>A (p.Leu27=) single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV000902189] Chr3:183099360 [GRCh38]
Chr3:182817148 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1270G>A (p.Asp424Asn) single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV001034851] Chr3:183039133 [GRCh38]
Chr3:182756921 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.829A>G (p.Ser277Gly) single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV001061963] Chr3:183057355 [GRCh38]
Chr3:182775143 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.1140T>G (p.His380Gln) single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV001056746] Chr3:183041694 [GRCh38]
Chr3:182759482 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.558del (p.Gln186fs) deletion 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV000810504]|Methylcrotonyl-CoA carboxylase deficiency [RCV001275518]|not provided [RCV001093262] Chr3:183071291 [GRCh38]
Chr3:182789079 [GRCh37]
Chr3:3q27.1
pathogenic
NM_020166.5(MCCC1):c.54G>A (p.Arg18=) single nucleotide variant not provided [RCV000970828] Chr3:183099387 [GRCh38]
Chr3:182817175 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.2034C>T (p.Ile678=) single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV000872946]|Methylcrotonyl-CoA carboxylase deficiency [RCV001272465] Chr3:183017281 [GRCh38]
Chr3:182735069 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.294C>T (p.Ile98=) single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV000871779] Chr3:183086768 [GRCh38]
Chr3:182804556 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1337C>T (p.Ala446Val) single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV000864404]|Methylcrotonyl-CoA carboxylase deficiency [RCV001273452] Chr3:183039066 [GRCh38]
Chr3:182756854 [GRCh37]
Chr3:3q27.1
likely benign|uncertain significance
NM_020166.5(MCCC1):c.254A>C (p.Asn85Thr) single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV000865064] Chr3:183092428 [GRCh38]
Chr3:182810216 [GRCh37]
Chr3:3q27.1
likely benign|conflicting interpretations of pathogenicity
NM_020166.5(MCCC1):c.320A>G (p.Tyr107Cys) single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV000818875] Chr3:183086742 [GRCh38]
Chr3:182804530 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.956-8C>T single nucleotide variant not provided [RCV000916140] Chr3:183045548 [GRCh38]
Chr3:182763336 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.2088dup (p.Val697fs) duplication 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV000817601] Chr3:183015527..183015528 [GRCh38]
Chr3:182733315..182733316 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.704del (p.Ala235fs) deletion 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV000796753] Chr3:183071056 [GRCh38]
Chr3:182788844 [GRCh37]
Chr3:3q27.1
pathogenic
NM_020166.5(MCCC1):c.1401T>C (p.Ile467=) single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV000976745] Chr3:183037411 [GRCh38]
Chr3:182755199 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1595A>G (p.Asp532Gly) single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV000794225] Chr3:183034077 [GRCh38]
Chr3:182751865 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.1703A>G (p.Tyr568Cys) single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV000821781] Chr3:183025783 [GRCh38]
Chr3:182743571 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.1302T>G (p.Ile434Met) single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV000822030] Chr3:183039101 [GRCh38]
Chr3:182756889 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.762-187G>A single nucleotide variant not provided [RCV000844399] Chr3:183057609 [GRCh38]
Chr3:182775397 [GRCh37]
Chr3:3q27.1
benign
NM_020166.5(MCCC1):c.956-252C>T single nucleotide variant not provided [RCV000844401] Chr3:183045792 [GRCh38]
Chr3:182763580 [GRCh37]
Chr3:3q27.1
benign
NM_020166.5(MCCC1):c.1210dup (p.His404fs) duplication 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV000808799] Chr3:183041623..183041624 [GRCh38]
Chr3:182759411..182759412 [GRCh37]
Chr3:3q27.1
pathogenic
NM_020166.5(MCCC1):c.1083+185G>A single nucleotide variant not provided [RCV000844402] Chr3:183045228 [GRCh38]
Chr3:182763016 [GRCh37]
Chr3:3q27.1
benign
NM_020166.5(MCCC1):c.1084-217G>A single nucleotide variant not provided [RCV000844403] Chr3:183041967 [GRCh38]
Chr3:182759755 [GRCh37]
Chr3:3q27.1
benign
NM_020166.5(MCCC1):c.1268-255A>G single nucleotide variant not provided [RCV000844410] Chr3:183039390 [GRCh38]
Chr3:182757178 [GRCh37]
Chr3:3q27.1
benign
NM_020166.5(MCCC1):c.1731+276G>T single nucleotide variant not provided [RCV000844411] Chr3:183025479 [GRCh38]
Chr3:182743267 [GRCh37]
Chr3:3q27.1
benign
NM_020166.5(MCCC1):c.860A>G (p.Glu287Gly) single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV000820469] Chr3:183057324 [GRCh38]
Chr3:182775112 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.2123dup (p.His708fs) duplication 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV000809952] Chr3:183015492..183015493 [GRCh38]
Chr3:182733280..182733281 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.1595-1G>C single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV000807500] Chr3:183034078 [GRCh38]
Chr3:182751866 [GRCh37]
Chr3:3q27.1
likely pathogenic
NM_020166.5(MCCC1):c.950G>C (p.Gly317Ala) single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV000799046] Chr3:183052164 [GRCh38]
Chr3:182769952 [GRCh37]
Chr3:3q27.1
uncertain significance
GRCh37/hg19 3q27.1(chr3:182787792-182922112)x1 copy number loss not provided [RCV000848733] Chr3:182787792..182922112 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.295G>A (p.Gly99Ser) single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV000812667] Chr3:183086767 [GRCh38]
Chr3:182804555 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.984A>T (p.Lys328Asn) single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV000813013]|Methylcrotonyl-CoA carboxylase deficiency [RCV001277559] Chr3:183045512 [GRCh38]
Chr3:182763300 [GRCh37]
Chr3:3q27.1
uncertain significance
NC_000003.12:g.(?_183052139)_(183052260_?)del deletion 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV000823965] Chr3:183052139..183052260 [GRCh38]
Chr3:182769927..182770048 [GRCh37]
Chr3:3q27.1
pathogenic
NM_020166.5(MCCC1):c.1561G>A (p.Ala521Thr) single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV000803982]|Methylcrotonyl-CoA carboxylase deficiency [RCV001273451] Chr3:183037251 [GRCh38]
Chr3:182755039 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.1730A>G (p.Gln577Arg) single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV000807706] Chr3:183025756 [GRCh38]
Chr3:182743544 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.1304C>T (p.Ala435Val) single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV000794663] Chr3:183039099 [GRCh38]
Chr3:182756887 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.673C>T (p.Gln225Ter) single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV000810043] Chr3:183071087 [GRCh38]
Chr3:182788875 [GRCh37]
Chr3:3q27.1
pathogenic
NM_020166.5(MCCC1):c.1282G>A (p.Val428Met) single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV001150243]|Methylcrotonyl-CoA carboxylase deficiency [RCV001280057] Chr3:183039121 [GRCh38]
Chr3:182756909 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.1483C>T (p.Gln495Ter) single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV001095700] Chr3:183037329 [GRCh38]
Chr3:182755117 [GRCh37]
Chr3:3q27.1
likely pathogenic
NM_020166.5(MCCC1):c.1268-1G>A single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV000794932] Chr3:183039136 [GRCh38]
Chr3:182756924 [GRCh37]
Chr3:3q27.1
likely pathogenic
NM_020166.5(MCCC1):c.1722T>C (p.Tyr574=) single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV001148666] Chr3:183025764 [GRCh38]
Chr3:182743552 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.89+1G>C single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV000804750] Chr3:183099351 [GRCh38]
Chr3:182817139 [GRCh37]
Chr3:3q27.1
likely pathogenic
NM_020166.5(MCCC1):c.1565T>C (p.Met522Thr) single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV001148667] Chr3:183037247 [GRCh38]
Chr3:182755035 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.1773C>T (p.Ser591=) single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV000798520] Chr3:183022513 [GRCh38]
Chr3:182740301 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.635G>C (p.Gly212Ala) single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV000798694] Chr3:183071214 [GRCh38]
Chr3:182789002 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.1994G>A (p.Gly665Glu) single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV000812729] Chr3:183017321 [GRCh38]
Chr3:182735109 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.350C>A (p.Ala117Asp) single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV000810735] Chr3:183086712 [GRCh38]
Chr3:182804500 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.1223C>T (p.Pro408Leu) single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV000805970] Chr3:183041611 [GRCh38]
Chr3:182759399 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.492-222A>G single nucleotide variant not provided [RCV000844398] Chr3:183071579 [GRCh38]
Chr3:182789367 [GRCh37]
Chr3:3q27.1
benign
NM_020166.5(MCCC1):c.1870-262C>T single nucleotide variant not provided [RCV000844412] Chr3:183020499 [GRCh38]
Chr3:182738287 [GRCh37]
Chr3:3q27.1
benign
NM_020166.5(MCCC1):c.1978-287T>A single nucleotide variant not provided [RCV000844413] Chr3:183017624 [GRCh38]
Chr3:182735412 [GRCh37]
Chr3:3q27.1
benign
NM_020166.5(MCCC1):c.1978-186G>A single nucleotide variant not provided [RCV000844414] Chr3:183017523 [GRCh38]
Chr3:182735311 [GRCh37]
Chr3:3q27.1
benign
NM_020166.5(MCCC1):c.2050-193A>G single nucleotide variant not provided [RCV000844415] Chr3:183015759 [GRCh38]
Chr3:182733547 [GRCh37]
Chr3:3q27.1
benign
NM_020166.5(MCCC1):c.535G>A (p.Glu179Lys) single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV000794626] Chr3:183071314 [GRCh38]
Chr3:182789102 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.874-239A>G single nucleotide variant not provided [RCV000831645] Chr3:183052479 [GRCh38]
Chr3:182770267 [GRCh37]
Chr3:3q27.1
benign
NM_020166.5(MCCC1):c.245C>G (p.Ala82Gly) single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV000797633] Chr3:183092437 [GRCh38]
Chr3:182810225 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.83C>T (p.Pro28Leu) single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV000804071] Chr3:183099358 [GRCh38]
Chr3:182817146 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.1303G>A (p.Ala435Thr) single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV000804238]|Methylcrotonyl-CoA carboxylase deficiency [RCV001275507] Chr3:183039100 [GRCh38]
Chr3:182756888 [GRCh37]
Chr3:3q27.1
uncertain significance
NC_000003.12:g.(?_183070989)_(183072497_?)del deletion 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV001032222] Chr3:182788777..182790285 [GRCh37]
Chr3:3q27.1
pathogenic
NM_020166.5(MCCC1):c.*6A>C single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV001145880] Chr3:183015432 [GRCh38]
Chr3:182733220 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.1941C>T (p.Gly647=) single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV001145881] Chr3:183020166 [GRCh38]
Chr3:182737954 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.1522_1544del (p.Leu508fs) deletion 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV001043256] Chr3:183037268..183037290 [GRCh38]
Chr3:182755056..182755078 [GRCh37]
Chr3:3q27.1
pathogenic
NM_020166.5(MCCC1):c.428A>T (p.Lys143Met) single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV001043221] Chr3:183072429 [GRCh38]
Chr3:182790217 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.2035G>A (p.Ala679Thr) single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV001239179] Chr3:183017280 [GRCh38]
Chr3:182735068 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.1808A>G (p.Asn603Ser) single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV001246014] Chr3:183022478 [GRCh38]
Chr3:182740266 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.370-16T>G single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV001198522] Chr3:183072503 [GRCh38]
Chr3:182790291 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.273+53A>C single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV000987369] Chr3:183092356 [GRCh38]
Chr3:182810144 [GRCh37]
Chr3:3q27.1
benign
NM_020166.5(MCCC1):c.1768T>C (p.Tyr590His) single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV001247582]|Methylcrotonyl-CoA carboxylase deficiency [RCV001280050] Chr3:183022518 [GRCh38]
Chr3:182740306 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.9G>A (p.Ala3=) single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV001144094] Chr3:183099432 [GRCh38]
Chr3:182817220 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.1764T>C (p.Asn588=) single nucleotide variant not provided [RCV000921549] Chr3:183022522 [GRCh38]
Chr3:182740310 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.192G>A (p.Val64=) single nucleotide variant not provided [RCV000924916] Chr3:183092490 [GRCh38]
Chr3:182810278 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.144C>T (p.Asn48=) single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV000930254] Chr3:183092538 [GRCh38]
Chr3:182810326 [GRCh37]
Chr3:3q27.1
likely benign|conflicting interpretations of pathogenicity
NM_020166.5(MCCC1):c.189G>A (p.Arg63=) single nucleotide variant not provided [RCV000932493] Chr3:183092493 [GRCh38]
Chr3:182810281 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.108A>G (p.Gln36=) single nucleotide variant not provided [RCV000932494] Chr3:183094587 [GRCh38]
Chr3:182812375 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1492C>T (p.Leu498Phe) single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV000871800] Chr3:183037320 [GRCh38]
Chr3:182755108 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1146C>T (p.Phe382=) single nucleotide variant not provided [RCV000933502] Chr3:183041688 [GRCh38]
Chr3:182759476 [GRCh37]
Chr3:3q27.1
likely benign
NM_020166.5(MCCC1):c.1864del (p.Ser622fs) deletion 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV001210556] Chr3:183022422 [GRCh38]
Chr3:182740210 [GRCh37]
Chr3:3q27.1
pathogenic
NM_020166.5(MCCC1):c.1937del (p.Gln646fs) deletion 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV001226502] Chr3:183020170 [GRCh38]
Chr3:182737958 [GRCh37]
Chr3:3q27.1
pathogenic
NM_020166.5(MCCC1):c.1067T>C (p.Val356Ala) single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV001219840] Chr3:183045429 [GRCh38]
Chr3:182763217 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.682_685del (p.Leu228fs) deletion 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV001239953] Chr3:183071075..183071078 [GRCh38]
Chr3:182788863..182788866 [GRCh37]
Chr3:3q27.1
pathogenic
NM_020166.5(MCCC1):c.872del (p.Ala291fs) deletion 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV001245155] Chr3:183057312 [GRCh38]
Chr3:182775100 [GRCh37]
Chr3:3q27.1
pathogenic
NM_020166.5(MCCC1):c.1722T>G (p.Tyr574Ter) single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV001223878] Chr3:183025764 [GRCh38]
Chr3:182743552 [GRCh37]
Chr3:3q27.1
pathogenic
NM_020166.5(MCCC1):c.1366C>T (p.Arg456Cys) single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV001223882] Chr3:183039037 [GRCh38]
Chr3:182756825 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.1216T>C (p.Ser406Pro) single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV001209005] Chr3:183041618 [GRCh38]
Chr3:182759406 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.197G>A (p.Arg66His) single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV001144092] Chr3:183092485 [GRCh38]
Chr3:182810273 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.130G>T (p.Ala44Ser) single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV001144093] Chr3:183094565 [GRCh38]
Chr3:182812353 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.686A>G (p.Glu229Gly) single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV000935769] Chr3:183071074 [GRCh38]
Chr3:182788862 [GRCh37]
Chr3:3q27.1
benign
NM_020166.5(MCCC1):c.730A>G (p.Met244Val) single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV001043819] Chr3:183071030 [GRCh38]
Chr3:182788818 [GRCh37]
Chr3:3q27.1
uncertain significance
GRCh37/hg19 3q26.2-28(chr3:169617690-190593854)x3 copy number gain not provided [RCV001005487] Chr3:169617690..190593854 [GRCh37]
Chr3:3q26.2-28
pathogenic
NM_020166.5(MCCC1):c.*90G>A single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV001143985] Chr3:183015348 [GRCh38]
Chr3:182733136 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.1527C>A (p.Cys509Ter) single nucleotide variant not provided [RCV001093261] Chr3:183037285 [GRCh38]
Chr3:182755073 [GRCh37]
Chr3:3q27.1
pathogenic
NM_020166.5(MCCC1):c.1705A>T (p.Asn569Tyr) single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV001047402] Chr3:183025781 [GRCh38]
Chr3:182743569 [GRCh37]
Chr3:3q27.1
uncertain significance
NC_000003.12:g.(?_183092399)_(183094615_?)dup duplication 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV001033022] Chr3:182810187..182812403 [GRCh37]
Chr3:3q27.1
likely pathogenic
NM_020166.5(MCCC1):c.2009C>T (p.Ala670Val) single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV001070728] Chr3:183017306 [GRCh38]
Chr3:182735094 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.455C>T (p.Pro152Leu) single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV001034783] Chr3:183072402 [GRCh38]
Chr3:182790190 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.227_228del (p.Val76fs) microsatellite 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV001214771] Chr3:183092454..183092455 [GRCh38]
Chr3:182810242..182810243 [GRCh37]
Chr3:3q27.1
pathogenic
NM_020166.5(MCCC1):c.1115A>C (p.Gln372Pro) single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV001061122] Chr3:183041719 [GRCh38]
Chr3:182759507 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.387C>A (p.Cys129Ter) single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV001220421] Chr3:183072470 [GRCh38]
Chr3:182790258 [GRCh37]
Chr3:3q27.1
pathogenic
NM_020166.5(MCCC1):c.280G>A (p.Glu94Lys) single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV001054400] Chr3:183086782 [GRCh38]
Chr3:182804570 [GRCh37]
Chr3:3q27.1
uncertain significance
NC_000003.12:g.(?_183092389)_(183092565_?)del deletion 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV001033389] Chr3:182810177..182810353 [GRCh37]
Chr3:3q27.1
pathogenic
NM_020166.5(MCCC1):c.1732-1G>T single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV001064711] Chr3:183022555 [GRCh38]
Chr3:182740343 [GRCh37]
Chr3:3q27.1
likely pathogenic
NM_020166.5(MCCC1):c.1268-7A>G single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV001201806] Chr3:183039142 [GRCh38]
Chr3:182756930 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.90-1G>C single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV001063409] Chr3:183094606 [GRCh38]
Chr3:182812394 [GRCh37]
Chr3:3q27.1
likely pathogenic
NM_020166.5(MCCC1):c.373A>G (p.Ile125Val) single nucleotide variant Methylcrotonyl-CoA carboxylase deficiency [RCV001277563] Chr3:183072484 [GRCh38]
Chr3:182790272 [GRCh37]
Chr3:3q27.1
uncertain significance
GRCh37/hg19 3q26.33-27.2(chr3:181171210-184706091)x1 copy number loss Anophthalmia/microphthalmia-esophageal atresia syndrome [RCV001267847] Chr3:181171210..184706091 [GRCh37]
Chr3:3q26.33-27.2
pathogenic
GRCh37/hg19 3q26.33-27.1(chr3:180834336-183551661)x1 copy number loss Anophthalmia/microphthalmia-esophageal atresia syndrome [RCV001267852] Chr3:180834336..183551661 [GRCh37]
Chr3:3q26.33-27.1
pathogenic
NM_020166.5(MCCC1):c.898A>G (p.Lys300Glu) single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV001336480] Chr3:183052216 [GRCh38]
Chr3:182770004 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.848AGA[1] (p.Lys284del) microsatellite 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV001310013] Chr3:183057331..183057333 [GRCh38]
Chr3:182775119..182775121 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.2056A>G (p.Ile686Val) single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV001327311] Chr3:183015560 [GRCh38]
Chr3:182733348 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.1040C>A (p.Thr347Asn) single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV001314729] Chr3:183045456 [GRCh38]
Chr3:182763244 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.1444G>A (p.Gly482Arg) single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV001337701] Chr3:183037368 [GRCh38]
Chr3:182755156 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.2024T>C (p.Met675Thr) single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV001308038] Chr3:183017291 [GRCh38]
Chr3:182735079 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.310C>A (p.Gln104Lys) single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV001331095] Chr3:183086752 [GRCh38]
Chr3:182804540 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.1570G>A (p.Asp524Asn) single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV001337604] Chr3:183037242 [GRCh38]
Chr3:182755030 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.2089G>A (p.Val697Met) single nucleotide variant Methylcrotonyl-CoA carboxylase deficiency [RCV001280048] Chr3:183015527 [GRCh38]
Chr3:182733315 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.1842G>A (p.Leu614=) single nucleotide variant Methylcrotonyl-CoA carboxylase deficiency [RCV001280049] Chr3:183022444 [GRCh38]
Chr3:182740232 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.711G>T (p.Lys237Asn) single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV001310014] Chr3:183071049 [GRCh38]
Chr3:182788837 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.530T>C (p.Val177Ala) single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV001320640] Chr3:183071319 [GRCh38]
Chr3:182789107 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.877G>A (p.Gly293Ser) single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV001325451] Chr3:183052237 [GRCh38]
Chr3:182770025 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.1554G>A (p.Lys518=) single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV001346730] Chr3:183037258 [GRCh38]
Chr3:182755046 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.314A>G (p.Gln105Arg) single nucleotide variant Methylcrotonyl-CoA carboxylase deficiency [RCV001277565] Chr3:183086748 [GRCh38]
Chr3:182804536 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.918A>C (p.Ala306=) single nucleotide variant Methylcrotonyl-CoA carboxylase deficiency [RCV001277560] Chr3:183052196 [GRCh38]
Chr3:182769984 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.1709A>G (p.His570Arg) single nucleotide variant Methylcrotonyl-CoA carboxylase deficiency [RCV001280052] Chr3:183025777 [GRCh38]
Chr3:182743565 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.1644G>A (p.Ser548=) single nucleotide variant Methylcrotonyl-CoA carboxylase deficiency [RCV001280053] Chr3:183034028 [GRCh38]
Chr3:182751816 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.1475A>G (p.His492Arg) single nucleotide variant Methylcrotonyl-CoA carboxylase deficiency [RCV001280054] Chr3:183037337 [GRCh38]
Chr3:182755125 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.1715G>C (p.Gly572Ala) single nucleotide variant Methylcrotonyl-CoA carboxylase deficiency [RCV001280051] Chr3:183025771 [GRCh38]
Chr3:182743559 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.328A>G (p.Met110Val) single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV001324599] Chr3:183086734 [GRCh38]
Chr3:182804522 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.272T>C (p.Met91Thr) single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV001306025] Chr3:183092410 [GRCh38]
Chr3:182810198 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.492-4A>G single nucleotide variant Methylcrotonyl-CoA carboxylase deficiency [RCV001277561] Chr3:183071361 [GRCh38]
Chr3:182789149 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.1367G>A (p.Arg456His) single nucleotide variant Methylcrotonyl-CoA carboxylase deficiency [RCV001280056] Chr3:183039036 [GRCh38]
Chr3:182756824 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.247G>C (p.Asp83His) single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV001301558] Chr3:183092435 [GRCh38]
Chr3:182810223 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.71G>C (p.Ser24Thr) single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV001325208] Chr3:183099370 [GRCh38]
Chr3:182817158 [GRCh37]
Chr3:3q27.1
uncertain significance
NM_020166.5(MCCC1):c.1147G>A (p.Glu383Lys) single nucleotide variant 3 Methylcrotonyl-CoA carboxylase 1 deficiency [RCV001325461] Chr3:183041687 [GRCh38]
Chr3:182759475 [GRCh37]
Chr3:3q27.1
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6936 AgrOrtholog
COSMIC MCCC1 COSMIC
Ensembl Genes ENSG00000078070 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000265594 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000418979 UniProtKB/TrEMBL
  ENSP00000419328 UniProtKB/TrEMBL
  ENSP00000419658 UniProtKB/TrEMBL
  ENSP00000419898 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000420088 UniProtKB/TrEMBL
  ENSP00000420223 UniProtKB/TrEMBL
  ENSP00000420433 UniProtKB/TrEMBL
  ENSP00000420591 UniProtKB/TrEMBL
  ENSP00000420648 UniProtKB/TrEMBL
  ENSP00000480435 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000486824 UniProtKB/TrEMBL
Ensembl Transcript ENST00000265594 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000466650 UniProtKB/TrEMBL
  ENST00000476176 UniProtKB/TrEMBL
  ENST00000486226 UniProtKB/TrEMBL
  ENST00000487634 UniProtKB/TrEMBL
  ENST00000490284 UniProtKB/TrEMBL
  ENST00000492597 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000495767 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000497830 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000497959 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000610757 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000629669 ENTREZGENE, UniProtKB/TrEMBL
Gene3D-CATH 3.30.1490.20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000078070 GTEx
HGNC ID HGNC:6936 ENTREZGENE
Human Proteome Map MCCC1 Human Proteome Map
InterPro ATP-grasp UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ATP_grasp_subdomain_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  BC-like_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Biotin_BS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Biotin_carboxylation_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Biotin_COase_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Biotin_lipoyl UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CbamoylP_synth_lsu-like_ATP-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PreATP-grasp_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Rudment_hybrid_motif UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Single_hybrid_motif UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:56922 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 56922 ENTREZGENE
OMIM 210200 OMIM
  609010 OMIM
Pfam Biotin_carb_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Biotin_carb_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Biotin_lipoyl UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CPSase_L_D2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA30680 PharmGKB
PROSITE ATP_GRASP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  BIOTIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  BIOTINYL_LIPOYL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CPSASE_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PS50979 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART Biotin_carb_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF51230 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF51246 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF52440 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0S2Z5H8_HUMAN UniProtKB/TrEMBL
  A0A0S2Z693 ENTREZGENE, UniProtKB/TrEMBL
  E9PG35_HUMAN UniProtKB/TrEMBL
  E9PHF7_HUMAN UniProtKB/TrEMBL
  F2Z2Z7_HUMAN UniProtKB/TrEMBL
  F2Z3E2_HUMAN UniProtKB/TrEMBL
  F5GYT8_HUMAN UniProtKB/TrEMBL
  F8WDI3_HUMAN UniProtKB/TrEMBL
  F8WF46_HUMAN UniProtKB/TrEMBL
  G5E9X5_HUMAN UniProtKB/TrEMBL
  MCCA_HUMAN UniProtKB/Swiss-Prot
  Q68D27 ENTREZGENE, UniProtKB/TrEMBL
  Q96RQ3 ENTREZGENE
UniProt Secondary Q59ES4 UniProtKB/Swiss-Prot
  Q9H959 UniProtKB/Swiss-Prot
  Q9NS97 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2021-03-22 MCCC1  methylcrotonyl-CoA carboxylase subunit 1  MCCC1  methylcrotonoyl-CoA carboxylase 1  Symbol and/or name change 19259463 PROVISIONAL
2015-12-08 MCCC1  methylcrotonoyl-CoA carboxylase 1    methylcrotonoyl-CoA carboxylase 1 (alpha)  Symbol and/or name change 5135510 APPROVED
2011-08-17 MCCC1  methylcrotonoyl-CoA carboxylase 1 (alpha)  MCCC1  methylcrotonoyl-CoA carboxylase 1 (alpha)  Symbol and/or name change 5135510 APPROVED
2011-07-27 MCCC1  methylcrotonoyl-CoA carboxylase 1 (alpha)  MCCC1  methylcrotonoyl-Coenzyme A carboxylase 1 (alpha)  Symbol and/or name change 5135510 APPROVED