MCCC2 (methylcrotonyl-CoA carboxylase subunit 2) - Rat Genome Database
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Gene: MCCC2 (methylcrotonyl-CoA carboxylase subunit 2) Homo sapiens
Analyze
Symbol: MCCC2
Name: methylcrotonyl-CoA carboxylase subunit 2
RGD ID: 1352586
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 2 deficiency and mitochondrial metabolism disease.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: 3-methylcrotonyl-CoA carboxylase 2; 3-methylcrotonyl-CoA carboxylase non-biotin-containing subunit; 3-methylcrotonyl-CoA:carbon dioxide ligase subunit beta; biotin carboxylase; MCCase subunit beta; MCCB; MCCCbeta; methylcrotonoyl-CoA carboxylase 2; methylcrotonoyl-CoA carboxylase 2 (beta); methylcrotonoyl-CoA carboxylase beta chain, mitochondrial; methylcrotonoyl-Coenzyme A carboxylase 2 (beta); non-biotin containing subunit of 3-methylcrotonyl-CoA carboxylase; testicular secretory protein Li 29
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 Ensembl571,587,288 - 71,658,706 (+)EnsemblGRCh38hg38GRCh38
GRCh38571,587,340 - 71,658,706 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37570,883,167 - 70,954,533 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36570,918,910 - 70,988,981 (+)NCBINCBI36hg18NCBI36
Build 34570,918,909 - 70,988,981NCBI
Celera566,778,848 - 66,850,229 (+)NCBI
Cytogenetic Map5q13.2NCBI
HuRef566,088,903 - 66,160,527 (+)NCBIHuRef
CHM1_1570,315,816 - 70,387,189 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-dexrazoxane  (ISO)
(+)-schisandrin B  (ISO)
(-)-demecolcine  (EXP)
1,1-dichloroethene  (ISO)
1,2-dimethylhydrazine  (ISO)
1-chloro-2,4-dinitrobenzene  (EXP)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP)
17beta-hydroxy-5alpha-androstan-3-one  (EXP)
2,3,7,8-tetrabromodibenzodioxine  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4-dinitrotoluene  (ISO)
2,6-dinitrotoluene  (ISO)
5-fluorouracil  (EXP)
acetamide  (ISO)
aflatoxin B1  (ISO)
benzo[a]pyrene  (EXP)
bisphenol A  (EXP,ISO)
cadmium atom  (ISO)
carbon nanotube  (ISO)
choline  (ISO)
chromium(6+)  (ISO)
clopidogrel  (ISO)
copper atom  (EXP)
copper(0)  (EXP)
cyclosporin A  (EXP,ISO)
dibutyl phthalate  (ISO)
dicrotophos  (EXP)
diuron  (ISO)
doxorubicin  (EXP,ISO)
endosulfan  (ISO)
enzyme inhibitor  (EXP)
folic acid  (ISO)
formaldehyde  (EXP)
genistein  (ISO)
glafenine  (ISO)
irinotecan  (EXP)
isoprenaline  (ISO)
isotretinoin  (EXP)
L-methionine  (ISO)
lead(0)  (EXP)
lead(2+)  (EXP)
lipopolysaccharide  (ISO)
methapyrilene  (ISO)
methyl methanesulfonate  (EXP)
methylparaben  (EXP)
methylseleninic acid  (EXP)
N-nitrosomorpholine  (ISO)
nimesulide  (ISO)
paracetamol  (EXP,ISO)
phlorizin  (ISO)
pirinixic acid  (EXP,ISO)
propiconazole  (ISO)
sodium arsenite  (ISO)
sodium dichromate  (ISO)
sunitinib  (EXP)
testosterone  (ISO)
tetrachloromethane  (ISO)
thapsigargin  (EXP)
trichloroethene  (ISO)
troglitazone  (ISO)
tungsten  (ISO)
tunicamycin  (EXP)
urethane  (EXP)
valproic acid  (EXP,ISO)
vancomycin  (ISO)
vinclozolin  (ISO)
vincristine  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

References

Additional References at PubMed
PMID:11181649   PMID:11401427   PMID:11406611   PMID:12477932   PMID:14702039   PMID:15146197   PMID:15489334   PMID:16010683   PMID:16023992   PMID:17360195   PMID:17876819   PMID:17968484  
PMID:18457437   PMID:19380743   PMID:19759019   PMID:19851296   PMID:20186120   PMID:20198315   PMID:20811636   PMID:20877624   PMID:21071250   PMID:21145461   PMID:21532586   PMID:21642987  
PMID:21873635   PMID:22150417   PMID:22264772   PMID:22869039   PMID:22939629   PMID:23752268   PMID:23798571   PMID:24244333   PMID:24344204   PMID:24755837   PMID:25071155   PMID:25147182  
PMID:25382614   PMID:25921289   PMID:26186194   PMID:26344197   PMID:26465331   PMID:26687479   PMID:26725010   PMID:26752685   PMID:26871637   PMID:26972000   PMID:27025967   PMID:27342126  
PMID:27499296   PMID:27601257   PMID:27684187   PMID:28514442   PMID:28515276   PMID:28611215   PMID:28718761   PMID:29117863   PMID:29229926   PMID:29467282   PMID:29509190   PMID:30349055  
PMID:30463901   PMID:30575818   PMID:30619736   PMID:30669930   PMID:30804502   PMID:30895811   PMID:30948266   PMID:30997501   PMID:31091453   PMID:31152661   PMID:31452512   PMID:31536960  
PMID:31901042   PMID:32205097   PMID:33423264  


Genomics

Comparative Map Data
MCCC2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl571,587,288 - 71,658,706 (+)EnsemblGRCh38hg38GRCh38
GRCh38571,587,340 - 71,658,706 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37570,883,167 - 70,954,533 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36570,918,910 - 70,988,981 (+)NCBINCBI36hg18NCBI36
Build 34570,918,909 - 70,988,981NCBI
Celera566,778,848 - 66,850,229 (+)NCBI
Cytogenetic Map5q13.2NCBI
HuRef566,088,903 - 66,160,527 (+)NCBIHuRef
CHM1_1570,315,816 - 70,387,189 (+)NCBICHM1_1
Mccc2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3913100,085,040 - 100,152,147 (-)NCBIGRCm39mm39
GRCm39 Ensembl13100,085,038 - 100,152,147 (-)Ensembl
GRCm381399,948,532 - 100,015,639 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1399,948,530 - 100,015,639 (-)EnsemblGRCm38mm10GRCm38
MGSCv3713100,718,487 - 100,785,594 (-)NCBIGRCm37mm9NCBIm37
MGSCv3613101,048,783 - 101,115,886 (-)NCBImm8
Celera13103,601,615 - 103,669,283 (-)NCBICelera
Cytogenetic Map13D1NCBI
Mccc2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2231,304,927 - 31,375,978 (-)NCBI
Rnor_6.0 Ensembl230,175,018 - 30,246,010 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0230,175,017 - 30,246,028 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0249,333,901 - 49,404,647 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4230,961,607 - 31,032,883 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1230,881,976 - 30,953,252 (-)NCBI
Celera227,327,945 - 27,397,754 (-)NCBICelera
Cytogenetic Map2q12NCBI
Mccc2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955575445,619 - 505,040 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955575445,627 - 503,891 (+)NCBIChiLan1.0ChiLan1.0
MCCC2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1544,298,650 - 44,369,106 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl544,298,650 - 44,369,106 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0543,650,993 - 43,724,877 (-)NCBIMhudiblu_PPA_v0panPan3
MCCC2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1254,751,703 - 54,825,133 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl254,751,698 - 54,823,273 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha251,718,218 - 51,791,623 (+)NCBI
ROS_Cfam_1.0255,265,241 - 55,340,500 (+)NCBI
UMICH_Zoey_3.1252,327,887 - 52,401,292 (+)NCBI
UNSW_CanFamBas_1.0253,094,755 - 53,168,219 (+)NCBI
UU_Cfam_GSD_1.0253,986,123 - 54,059,570 (+)NCBI
Mccc2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024407213186,028,772 - 186,100,599 (+)NCBI
SpeTri2.0NW_0049365494,760,073 - 4,830,190 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MCCC2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1647,917,291 - 47,996,540 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11647,917,308 - 47,996,540 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21651,863,689 - 51,939,708 (+)NCBISscrofa10.2Sscrofa10.2susScr3
MCCC2
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1465,944,742 - 66,013,663 (+)NCBI
ChlSab1.1 Ensembl465,944,840 - 66,013,663 (+)Ensembl
Vero_WHO_p1.0NW_02366604914,689,886 - 14,759,320 (+)NCBI
Mccc2
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624905645,782 - 709,611 (+)NCBI

Position Markers
RH93252  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37570,952,697 - 70,952,783UniSTSGRCh37
Build 36570,988,453 - 70,988,539RGDNCBI36
Celera566,848,395 - 66,848,481RGD
Cytogenetic Map5q12-q13UniSTS
HuRef566,158,693 - 66,158,779UniSTS
GeneMap99-GB4 RH Map5350.64UniSTS
SHGC-58479  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37570,938,440 - 70,938,615UniSTSGRCh37
Build 36570,974,196 - 70,974,371RGDNCBI36
Celera566,834,134 - 66,834,309RGD
Cytogenetic Map5q12-q13UniSTS
HuRef566,144,286 - 66,144,461UniSTS
RH119130  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37570,947,975 - 70,948,257UniSTSGRCh37
Build 36570,983,731 - 70,984,013RGDNCBI36
Celera566,843,674 - 66,843,956RGD
Cytogenetic Map5q12-q13UniSTS
HuRef566,153,826 - 66,154,108UniSTS
D5S2198E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37570,912,529 - 70,912,635UniSTSGRCh37
Build 36570,948,285 - 70,948,391RGDNCBI36
Celera566,808,275 - 66,808,381RGD
Cytogenetic Map5q12-q13UniSTS
HuRef566,118,402 - 66,118,508UniSTS
G09869  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37570,925,490 - 70,925,647UniSTSGRCh37
Build 36570,961,246 - 70,961,403RGDNCBI36
Celera566,821,204 - 66,821,355RGD
Cytogenetic Map5q12-q13UniSTS
HuRef566,131,331 - 66,131,488UniSTS
SHGC-34463  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37570,953,094 - 70,953,225UniSTSGRCh37
Build 36570,988,850 - 70,988,981RGDNCBI36
Celera566,848,792 - 66,848,923RGD
Cytogenetic Map5q12-q13UniSTS
HuRef566,159,090 - 66,159,221UniSTS
Stanford-G3 RH Map52534.0UniSTS
GeneMap99-GB4 RH Map5352.98UniSTS
Whitehead-RH Map5249.6UniSTS
GeneMap99-G3 RH Map52529.0UniSTS
D11S2921  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map10q24.33UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map13q12UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map12q21.33UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic MapXp11.4-p11.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map1q24.1UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map18pter-p11.3UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map2q21.3UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map4q34.1UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map7q21.12UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map6p22UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map7p21.2UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic Map8p23-p22UniSTS
Cytogenetic Map12p11UniSTS
Cytogenetic Map17q21-q22UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map11p13-p12UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map2q12.1UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map5q12-q13UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map12q13-q14UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map15q15-q21.1UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map11q22.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map21p11.1UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map6q15UniSTS
Cytogenetic MapXq25-q26.3UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map12q24.31-q24.32UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map12p12.2-p11.2UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic MapXp11UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map18p11.32UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map9p24.1-p23UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic MapXq12-q13UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map1q42.1-q43UniSTS
Cytogenetic Map7q31.1-q31.3UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map20q12-q13.12UniSTS
Cytogenetic Map1q24-q25.3UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map6q25.1-q26UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic Map12p11.22UniSTS
Cytogenetic Map17q23.1UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map9p11UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map11p11.11UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map15q22-q23UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map15q22-qterUniSTS
Cytogenetic Map10q25UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map5p15.1UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map2q23.3UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map2q21.2UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map19p13.2-cenUniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic Map9q33UniSTS
Cytogenetic Map1p36-p35UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map12q23UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map7q31.1-q31.2UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map4q25-q27UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic MapXq26.2UniSTS
Cytogenetic Map8q13.2UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map5q23.1UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map3p26.1UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic MapXq21.3UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map5p13.1-p12UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map6q14.3-q16.1UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map6q14.3UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map13q12.2UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map17q21.1-q21.3UniSTS
Cytogenetic Map6q11.1UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map9q32-q33.3UniSTS
Cytogenetic Map8q21.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map12p13.2-p12.3UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map10q24-q25UniSTS
Cytogenetic Map7p11.1UniSTS
Cytogenetic Map14q11.2-q21UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map2p24.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map5p14.3UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map9p13.1UniSTS
Cytogenetic Map9q34.13UniSTS
MCCC2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37570,930,827 - 70,931,042UniSTSGRCh37
Celera566,826,522 - 66,826,737UniSTS
HuRef566,136,674 - 66,136,889UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2095
Count of miRNA genes:1002
Interacting mature miRNAs:1209
Transcripts:ENST00000323375, ENST00000340941, ENST00000505435, ENST00000505787, ENST00000507169, ENST00000509358, ENST00000509539, ENST00000510895, ENST00000512218
Prediction methods: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 2166 1925 1705 620 1172 462 4198 1859 2336 404 1376 1528 172 1155 2637 3 1
Low 273 1051 21 4 764 3 159 338 1398 15 84 85 3 1 49 151 3 1
Below cutoff 15 15

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008882 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001363147 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_022132 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011543529 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017009688 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001742172 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB050049 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB050050 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC138832 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC143336 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF261884 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF301000 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF310971 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK025591 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK090834 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310194 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL079298 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC014897 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC065027 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471084 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN309723 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM005569 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178741 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178742 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000340941   ⟹   ENSP00000343657
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl571,587,340 - 71,658,706 (+)Ensembl
RefSeq Acc Id: ENST00000505435
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl571,604,380 - 71,641,368 (+)Ensembl
RefSeq Acc Id: ENST00000505787
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl571,596,270 - 71,635,099 (+)Ensembl
RefSeq Acc Id: ENST00000507169
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl571,592,871 - 71,603,065 (+)Ensembl
RefSeq Acc Id: ENST00000509358   ⟹   ENSP00000420994
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl571,587,330 - 71,641,121 (+)Ensembl
RefSeq Acc Id: ENST00000509539   ⟹   ENSP00000425474
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl571,626,654 - 71,652,722 (+)Ensembl
RefSeq Acc Id: ENST00000510895
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl571,602,509 - 71,636,711 (+)Ensembl
RefSeq Acc Id: ENST00000512218   ⟹   ENSP00000423202
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl571,587,288 - 71,657,215 (+)Ensembl
RefSeq Acc Id: ENST00000629193   ⟹   ENSP00000486535
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl571,587,288 - 71,643,794 (+)Ensembl
RefSeq Acc Id: NM_001363147   ⟹   NP_001350076
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38571,587,340 - 71,658,706 (+)NCBI
RefSeq Acc Id: NM_022132   ⟹   NP_071415
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38571,587,340 - 71,658,706 (+)NCBI
GRCh37570,883,115 - 70,954,533 (+)NCBI
Build 36570,918,910 - 70,988,981 (+)NCBI Archive
Celera566,778,848 - 66,850,229 (+)RGD
HuRef566,088,903 - 66,160,527 (+)RGD
CHM1_1570,315,816 - 70,387,189 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011543529   ⟹   XP_011541831
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38571,587,386 - 71,640,331 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017009688   ⟹   XP_016865177
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38571,587,386 - 71,643,841 (+)NCBI
Sequence:
RefSeq Acc Id: XR_001742172
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38571,587,386 - 71,658,706 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_071415   ⟸   NM_022132
- Peptide Label: isoform 1 precursor
- UniProtKB: Q9HCC0 (UniProtKB/Swiss-Prot),   A0A140VK29 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011541831   ⟸   XM_011543529
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016865177   ⟸   XM_017009688
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: NP_001350076   ⟸   NM_001363147
- Peptide Label: isoform 2 precursor
RefSeq Acc Id: ENSP00000425474   ⟸   ENST00000509539
RefSeq Acc Id: ENSP00000420994   ⟸   ENST00000509358
RefSeq Acc Id: ENSP00000486535   ⟸   ENST00000629193
RefSeq Acc Id: ENSP00000343657   ⟸   ENST00000340941
RefSeq Acc Id: ENSP00000423202   ⟸   ENST00000512218
Promoters
RGD ID:6803370
Promoter ID:HG_KWN:50429
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000323375,   NM_022132,   UC003KBT.2,   UC010IYV.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36570,918,621 - 70,919,121 (+)MPROMDB
RGD ID:6803354
Promoter ID:HG_KWN:50430
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour
Transcripts:UC003KBU.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36570,933,109 - 70,933,609 (+)MPROMDB
RGD ID:6869838
Promoter ID:EPDNEW_H8084
Type:initiation region
Name:MCCC2_1
Description:methylcrotonoyl-CoA carboxylase 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H8083  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38571,587,340 - 71,587,400EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_022132.5(MCCC2):c.987dup (p.Asp330Ter) duplication 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV000550314] Chr5:71635231..71635232 [GRCh38]
Chr5:70931058..70931059 [GRCh37]
Chr5:5q13.2
pathogenic
NM_022132.5(MCCC2):c.447_448TG[1] (p.Val150fs) microsatellite not provided [RCV000520915] Chr5:71602569..71602570 [GRCh38]
Chr5:70898396..70898397 [GRCh37]
Chr5:5q13.2
pathogenic
NM_022132.4(MCCC2):c.1367_1368inv (p.Ala456Val) inversion 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV000694490]|not provided [RCV000521841] Chr5:71649247..71649248 [GRCh38]
Chr5:70945074..70945075 [GRCh37]
Chr5:5q13.2
pathogenic|uncertain significance
NM_022132.5(MCCC2):c.1619T>A (p.Val540Asp) single nucleotide variant not provided [RCV000523782] Chr5:71656787 [GRCh38]
Chr5:70952614 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.1450A>C (p.Thr484Pro) single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV000532761] Chr5:71650145 [GRCh38]
Chr5:70945972 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.517dup (p.Ser173fs) duplication 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV000001996]|not provided [RCV000598746] Chr5:71604359..71604360 [GRCh38]
Chr5:70900186..70900187 [GRCh37]
Chr5:5q13.2
pathogenic
NM_022132.5(MCCC2):c.295G>C (p.Glu99Gln) single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV000001997]|not provided [RCV000082095] Chr5:71599672 [GRCh38]
Chr5:70895499 [GRCh37]
Chr5:5q13.2
pathogenic
NM_022132.5(MCCC2):c.464G>A (p.Arg155Gln) single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV000001998] Chr5:71602586 [GRCh38]
Chr5:70898413 [GRCh37]
Chr5:5q13.2
pathogenic
NM_022132.5(MCCC2):c.929C>G (p.Pro310Arg) single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV000001999] Chr5:71635176 [GRCh38]
Chr5:70931003 [GRCh37]
Chr5:5q13.2
pathogenic
NM_022132.5(MCCC2):c.499T>C (p.Cys167Arg) single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV000002000] Chr5:71602621 [GRCh38]
Chr5:70898448 [GRCh37]
Chr5:5q13.2
pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_022132.5(MCCC2):c.803G>C (p.Arg268Thr) single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV000002001]|not provided [RCV000584948] Chr5:71632185 [GRCh38]
Chr5:70928012 [GRCh37]
Chr5:5q13.2
pathogenic|uncertain significance
NM_022132.5(MCCC2):c.1309A>G (p.Ile437Val) single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV000002002] Chr5:71649189 [GRCh38]
Chr5:70945016 [GRCh37]
Chr5:5q13.2
pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_022132.5(MCCC2):c.569A>G (p.His190Arg) single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV000002003] Chr5:71604413 [GRCh38]
Chr5:70900240 [GRCh37]
Chr5:5q13.2
pathogenic
NM_022132.5(MCCC2):c.838G>T (p.Asp280Tyr) single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV000002004] Chr5:71634977 [GRCh38]
Chr5:70930804 [GRCh37]
Chr5:5q13.2
pathogenic|likely pathogenic
NM_022132.5(MCCC2):c.1574+1G>A single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV000002005] Chr5:71652755 [GRCh38]
Chr5:70948582 [GRCh37]
Chr5:5q13.2
pathogenic|likely pathogenic
NM_022132.5(MCCC2):c.1439A>G (p.Asn480Ser) single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV000878909]|not specified [RCV000602819] Chr5:71650134 [GRCh38]
Chr5:70945961 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.1559A>C (p.Tyr520Ser) single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV000542781]|Methylcrotonyl-CoA carboxylase deficiency [RCV001271411] Chr5:71652739 [GRCh38]
Chr5:70948566 [GRCh37]
Chr5:5q13.2
uncertain significance
GRCh38/hg38 5q13.2(chr5:71620401-71725140)x1 copy number loss See cases [RCV000054136] Chr5:71620401..71725140 [GRCh38]
Chr5:70916228..71020967 [GRCh37]
Chr5:70951984..71056723 [NCBI36]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.1019A>T (p.Asp340Val) single nucleotide variant not provided [RCV000082091] Chr5:71641022 [GRCh38]
Chr5:70936849 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.116C>T (p.Ser39Phe) single nucleotide variant not provided [RCV000259051] Chr5:71587541 [GRCh38]
Chr5:70883368 [GRCh37]
Chr5:5q13.2
conflicting interpretations of pathogenicity|uncertain significance
NM_022132.5(MCCC2):c.1368A>G (p.Ala456=) single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV000333305]|not specified [RCV000082093] Chr5:71649248 [GRCh38]
Chr5:70945075 [GRCh37]
Chr5:5q13.2
benign
NM_022132.5(MCCC2):c.1433C>G (p.Ala478Gly) single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV000539137]|Methylcrotonyl-CoA carboxylase deficiency [RCV001271408]|not provided [RCV000723495] Chr5:71650128 [GRCh38]
Chr5:70945955 [GRCh37]
Chr5:5q13.2
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_022132.5(MCCC2):c.380C>G (p.Ser127Ter) single nucleotide variant not provided [RCV000178333] Chr5:71599757 [GRCh38]
Chr5:70895584 [GRCh37]
Chr5:5q13.2
pathogenic
NM_022132.5(MCCC2):c.904-12A>G single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV000259351]|not specified [RCV000082097] Chr5:71635139 [GRCh38]
Chr5:70930966 [GRCh37]
Chr5:5q13.2
benign
NM_022132.5(MCCC2):c.1081C>T (p.Arg361Ter) single nucleotide variant not provided [RCV000174397] Chr5:71643827 [GRCh38]
Chr5:70939654 [GRCh37]
Chr5:5q13.2
pathogenic
NM_022132.5(MCCC2):c.557_560delinsTTGTCGAGGTAAGTGT (p.Pro186_Asp187delinsLeuValGluValSerVal) indel 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV001246928]|not provided [RCV000179521] Chr5:71604401..71604404 [GRCh38]
Chr5:70900228..70900231 [GRCh37]
Chr5:5q13.2
pathogenic|likely pathogenic|uncertain significance
NM_022132.5(MCCC2):c.518C>G (p.Ser173Trp) single nucleotide variant not provided [RCV000179522] Chr5:71604362 [GRCh38]
Chr5:70900189 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.568C>T (p.His190Tyr) single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV000179523]|not provided [RCV000185999] Chr5:71604412 [GRCh38]
Chr5:70900239 [GRCh37]
Chr5:5q13.2
pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_022132.5(MCCC2):c.1441G>A (p.Val481Met) single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV000554324]|Methylcrotonyl-CoA carboxylase deficiency [RCV001271409]|not provided [RCV000174945] Chr5:71650136 [GRCh38]
Chr5:70945963 [GRCh37]
Chr5:5q13.2
pathogenic|uncertain significance
GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3 copy number gain See cases [RCV000138780] Chr5:22149..74412725 [GRCh38]
Chr5:22149..73708550 [GRCh37]
Chr5:75149..73744306 [NCBI36]
Chr5:5p15.33-q13.3
pathogenic
NM_022132.5(MCCC2):c.6G>C (p.Trp2Cys) single nucleotide variant not provided [RCV000153470] Chr5:71587431 [GRCh38]
Chr5:70883258 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.446C>T (p.Thr149Ile) single nucleotide variant not provided [RCV000153471] Chr5:71602568 [GRCh38]
Chr5:70898395 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.478G>A (p.Ala160Thr) single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV000704177]|not provided [RCV000153472] Chr5:71602600 [GRCh38]
Chr5:70898427 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.599T>A (p.Ile200Asn) single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV000509529]|Methylcrotonyl-CoA carboxylase deficiency [RCV001271684]|not provided [RCV000153473] Chr5:71604443 [GRCh38]
Chr5:70900270 [GRCh37]
Chr5:5q13.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_022132.5(MCCC2):c.994C>T (p.Arg332Ter) single nucleotide variant not provided [RCV000173893] Chr5:71635241 [GRCh38]
Chr5:70931068 [GRCh37]
Chr5:5q13.2
pathogenic
NM_022132.5(MCCC2):c.1367C>T (p.Ala456Val) single nucleotide variant not provided [RCV000153475] Chr5:71649247 [GRCh38]
Chr5:70945074 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.1000-14_1000-12del microsatellite not specified [RCV000185997] Chr5:71640984..71640986 [GRCh38]
Chr5:70936811..70936813 [GRCh37]
Chr5:5q13.2
benign
NM_022132.5(MCCC2):c.1181G>T (p.Arg394Ile) single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV001235788] Chr5:71646242 [GRCh38]
Chr5:70942069 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.4(MCCC2):c.518C>T (p.Ser173Leu) single nucleotide variant not provided [RCV000185998] Chr5:71604362 [GRCh38]
Chr5:70900189 [GRCh37]
Chr5:5q13.2
pathogenic
NM_022132.5(MCCC2):c.577C>T (p.Arg193Cys) single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV001248667] Chr5:71604421 [GRCh38]
Chr5:70900248 [GRCh37]
Chr5:5q13.2
pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_022132.5(MCCC2):c.1015G>A (p.Val339Met) single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV000415228]|Methylcrotonyl-CoA carboxylase deficiency [RCV001271403]|not provided [RCV000186002] Chr5:71641018 [GRCh38]
Chr5:70936845 [GRCh37]
Chr5:5q13.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_022132.5(MCCC2):c.1065A>T (p.Leu355Phe) single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV000525215]|Methylcrotonyl-CoA carboxylase deficiency [RCV001271404]|not provided [RCV000186003] Chr5:71641068 [GRCh38]
Chr5:70936895 [GRCh37]
Chr5:5q13.2
pathogenic|likely pathogenic
NM_022132.4(MCCC2):c.190A>T (p.Lys64Ter) single nucleotide variant not provided [RCV000186004] Chr5:71592986 [GRCh38]
Chr5:70888813 [GRCh37]
Chr5:5q13.2
pathogenic
NM_022132.5(MCCC2):c.1322T>C (p.Ile441Thr) single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV000477880]|Methylcrotonyl-CoA carboxylase deficiency [RCV001271407]|not provided [RCV000186005] Chr5:71649202 [GRCh38]
Chr5:70945029 [GRCh37]
Chr5:5q13.2
likely pathogenic|uncertain significance
NM_022132.5(MCCC2):c.214C>T (p.Arg72Ter) single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV001228980]|not provided [RCV000291859] Chr5:71596297 [GRCh38]
Chr5:70892124 [GRCh37]
Chr5:5q13.2
pathogenic
NM_022132.5(MCCC2):c.*1573C>G single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV000284224] Chr5:71658433 [GRCh38]
Chr5:70954260 [GRCh37]
Chr5:5q13.2
benign|likely benign
NM_022132.5(MCCC2):c.1373+27A>G single nucleotide variant not specified [RCV000244282] Chr5:71649280 [GRCh38]
Chr5:70945107 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.1578A>G (p.Val526=) single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV000872944]|Methylcrotonyl-CoA carboxylase deficiency [RCV001271413]|not specified [RCV000244585] Chr5:71656746 [GRCh38]
Chr5:70952573 [GRCh37]
Chr5:5q13.2
benign
NM_022132.5(MCCC2):c.282-7G>A single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV000870656]|not specified [RCV000249547] Chr5:71599652 [GRCh38]
Chr5:70895479 [GRCh37]
Chr5:5q13.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_022132.5(MCCC2):c.738+36G>A single nucleotide variant not specified [RCV000254543] Chr5:71626789 [GRCh38]
Chr5:70922616 [GRCh37]
Chr5:5q13.2
benign
NM_022132.5(MCCC2):c.1657A>G (p.Ile553Val) single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV001041177] Chr5:71656825 [GRCh38]
Chr5:70952652 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.1488+10G>A single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV000875047]|not specified [RCV000247635] Chr5:71650193 [GRCh38]
Chr5:70946020 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.1574+37C>G single nucleotide variant not specified [RCV000252585] Chr5:71652791 [GRCh38]
Chr5:70948618 [GRCh37]
Chr5:5q13.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_022132.5(MCCC2):c.*1198C>T single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV000268763] Chr5:71658058 [GRCh38]
Chr5:70953885 [GRCh37]
Chr5:5q13.2
benign
NM_022132.5(MCCC2):c.739-25C>T single nucleotide variant not specified [RCV000243194] Chr5:71632096 [GRCh38]
Chr5:70927923 [GRCh37]
Chr5:5q13.2
benign
NM_022132.5(MCCC2):c.999+39T>G single nucleotide variant not specified [RCV000253141] Chr5:71635285 [GRCh38]
Chr5:70931112 [GRCh37]
Chr5:5q13.2
benign
NM_022132.5(MCCC2):c.675C>A (p.Ala225=) single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV000354128] Chr5:71626690 [GRCh38]
Chr5:70922517 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.*1381A>C single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV000378534] Chr5:71658241 [GRCh38]
Chr5:70954068 [GRCh37]
Chr5:5q13.2
benign|uncertain significance
NM_022132.5(MCCC2):c.*565C>A single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV000286869] Chr5:71657425 [GRCh38]
Chr5:70953252 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.*526C>T single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV000381334] Chr5:71657386 [GRCh38]
Chr5:70953213 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.*593G>T single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV000404190] Chr5:71657453 [GRCh38]
Chr5:70953280 [GRCh37]
Chr5:5q13.2
benign|likely benign
NM_022132.5(MCCC2):c.*1354C>T single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV000323938] Chr5:71658214 [GRCh38]
Chr5:70954041 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.-38G>A single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV000357588]|not specified [RCV000420533] Chr5:71587388 [GRCh38]
Chr5:70883215 [GRCh37]
Chr5:5q13.2
likely benign|uncertain significance
NM_022132.5(MCCC2):c.*368T>C single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV000345546] Chr5:71657228 [GRCh38]
Chr5:70953055 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.*247C>T single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV000384930] Chr5:71657107 [GRCh38]
Chr5:70952934 [GRCh37]
Chr5:5q13.2
benign
NM_022132.5(MCCC2):c.*1080G>T single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV000327233] Chr5:71657940 [GRCh38]
Chr5:70953767 [GRCh37]
Chr5:5q13.2
likely benign|uncertain significance
NM_022132.5(MCCC2):c.*725C>T single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV000297159] Chr5:71657585 [GRCh38]
Chr5:70953412 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.*245T>C single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV000330448] Chr5:71657105 [GRCh38]
Chr5:70952932 [GRCh37]
Chr5:5q13.2
likely benign|uncertain significance
NM_022132.5(MCCC2):c.*819G>A single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV000370807] Chr5:71657679 [GRCh38]
Chr5:70953506 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.615T>G (p.Asn205Lys) single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV000299322] Chr5:71604459 [GRCh38]
Chr5:70900286 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.*577T>A single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV000341967] Chr5:71657437 [GRCh38]
Chr5:70953264 [GRCh37]
Chr5:5q13.2
likely benign|uncertain significance
NM_022132.5(MCCC2):c.*940C>G single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV000272217] Chr5:71657800 [GRCh38]
Chr5:70953627 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.652G>A (p.Ala218Thr) single nucleotide variant not provided [RCV000376860] Chr5:71626667 [GRCh38]
Chr5:70922494 [GRCh37]
Chr5:5q13.2
likely pathogenic
NM_022132.5(MCCC2):c.384-20A>G single nucleotide variant not provided [RCV000489298] Chr5:71602486 [GRCh38]
Chr5:70898313 [GRCh37]
Chr5:5q13.2
likely pathogenic
NM_022132.5(MCCC2):c.417C>T (p.Thr139=) single nucleotide variant Methylcrotonyl-CoA carboxylase deficiency [RCV001279166] Chr5:71602539 [GRCh38]
Chr5:70898366 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.775G>T (p.Asp259Tyr) single nucleotide variant Methylcrotonyl-CoA carboxylase deficiency [RCV001279169] Chr5:71632157 [GRCh38]
Chr5:70927984 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.1438A>G (p.Asn480Asp) single nucleotide variant Methylcrotonyl-CoA carboxylase deficiency [RCV001279174] Chr5:71650133 [GRCh38]
Chr5:70945960 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.1474C>T (p.Arg492Trp) single nucleotide variant Methylcrotonyl-CoA carboxylase deficiency [RCV001279175] Chr5:71650169 [GRCh38]
Chr5:70945996 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.1674C>T (p.Phe558=) single nucleotide variant Methylcrotonyl-CoA carboxylase deficiency [RCV001279181] Chr5:71656842 [GRCh38]
Chr5:70952669 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.511+7dup duplication 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV000531845]|Methylcrotonyl-CoA carboxylase deficiency [RCV001271398]|not specified [RCV000605698] Chr5:71602639..71602640 [GRCh38]
Chr5:70898466..70898467 [GRCh37]
Chr5:5q13.2
benign
NC_000005.10:g.(?_71626620)_(71649273_?)del deletion 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV000526440] Chr5:71626620..71649273 [GRCh38]
Chr5:5q13.2
pathogenic
NM_022132.5(MCCC2):c.*1144A>G single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV000363375] Chr5:71658004 [GRCh38]
Chr5:70953831 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.*839T>C single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV000399718] Chr5:71657699 [GRCh38]
Chr5:70953526 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.*878T>G single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV000367250] Chr5:71657738 [GRCh38]
Chr5:70953565 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.1572A>T (p.Ala524=) single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV000387843]|not provided [RCV000595205] Chr5:71652752 [GRCh38]
Chr5:70948579 [GRCh37]
Chr5:5q13.2
conflicting interpretations of pathogenicity|uncertain significance
NM_022132.5(MCCC2):c.*699T>C single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV000337096] Chr5:71657559 [GRCh38]
Chr5:70953386 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.*719del deletion 3-MCC Deficiency [RCV000395340] Chr5:71657579 [GRCh38]
Chr5:70953406 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.*659C>T single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV000300834] Chr5:71657519 [GRCh38]
Chr5:70953346 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.*856C>T single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV000312514] Chr5:71657716 [GRCh38]
Chr5:70953543 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.1179A>G (p.Gln393=) single nucleotide variant not specified [RCV000600647] Chr5:71646240 [GRCh38]
Chr5:70942067 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.*260T>A single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV000290492] Chr5:71657120 [GRCh38]
Chr5:70952947 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.1412_1413del (p.Ser471fs) deletion not provided [RCV000730510] Chr5:71650107..71650108 [GRCh38]
Chr5:70945934..70945935 [GRCh37]
Chr5:5q13.2
pathogenic
NM_022132.5(MCCC2):c.538C>T (p.Arg180Ter) single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV001066211]|Methylcrotonyl-CoA carboxylase deficiency [RCV001271399]|not provided [RCV000578777] Chr5:71604382 [GRCh38]
Chr5:70900209 [GRCh37]
Chr5:5q13.2
pathogenic
NM_022132.5(MCCC2):c.738+9A>G single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV001082715]|not provided [RCV000730706] Chr5:71626762 [GRCh38]
Chr5:70922589 [GRCh37]
Chr5:5q13.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022132.5(MCCC2):c.142C>T (p.Gln48Ter) single nucleotide variant not provided [RCV000733133] Chr5:71592938 [GRCh38]
Chr5:70888765 [GRCh37]
Chr5:5q13.2
pathogenic
NM_022132.5(MCCC2):c.1273A>G (p.Met425Val) single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV000540369] Chr5:71649153 [GRCh38]
Chr5:70944980 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.1423G>A (p.Gly475Arg) single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV000533421] Chr5:71650118 [GRCh38]
Chr5:70945945 [GRCh37]
Chr5:5q13.2
conflicting interpretations of pathogenicity|uncertain significance
NM_022132.5(MCCC2):c.1374-19C>A single nucleotide variant not specified [RCV000417642] Chr5:71650050 [GRCh38]
Chr5:70945877 [GRCh37]
Chr5:5q13.2
likely benign
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) copy number gain See cases [RCV000510723] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
NM_022132.5(MCCC2):c.330C>T (p.Asp110=) single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV000973790]|not specified [RCV000424732] Chr5:71599707 [GRCh38]
Chr5:70895534 [GRCh37]
Chr5:5q13.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_022132.5(MCCC2):c.-20C>G single nucleotide variant not specified [RCV000428880] Chr5:71587406 [GRCh38]
Chr5:70883233 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.969T>C (p.Ala323=) single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV000541299]|not specified [RCV000443240] Chr5:71635216 [GRCh38]
Chr5:70931043 [GRCh37]
Chr5:5q13.2
benign|likely benign
NM_022132.5(MCCC2):c.1215T>G (p.Thr405=) single nucleotide variant not specified [RCV000436254] Chr5:71646276 [GRCh38]
Chr5:70942103 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.302C>A (p.Ser101Tyr) single nucleotide variant not provided [RCV000434603] Chr5:71599679 [GRCh38]
Chr5:70895506 [GRCh37]
Chr5:5q13.2
likely pathogenic
NM_022132.5(MCCC2):c.1509G>A (p.Ala503=) single nucleotide variant not specified [RCV000440911] Chr5:71652689 [GRCh38]
Chr5:70948516 [GRCh37]
Chr5:5q13.2
likely benign
GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1 copy number loss See cases [RCV000511978] Chr5:17628741..176575720 [GRCh37]
Chr5:5p15.1-q35.2
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3 copy number gain See cases [RCV000512039] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
NM_022132.5(MCCC2):c.1064T>A (p.Leu355Ter) single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV001231606] Chr5:71641067 [GRCh38]
Chr5:70936894 [GRCh37]
Chr5:5q13.2
pathogenic
NM_022132.5(MCCC2):c.798T>C (p.His266=) single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV000535149] Chr5:71632180 [GRCh38]
Chr5:70928007 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.1217-7C>G single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV000870657]|not specified [RCV000605933] Chr5:71649090 [GRCh38]
Chr5:70944917 [GRCh37]
Chr5:5q13.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_022132.5(MCCC2):c.436T>G (p.Tyr146Asp) single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV000644020] Chr5:71602558 [GRCh38]
Chr5:70898385 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.1635dup (p.Ser546Ter) duplication 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV000644019]|Methylcrotonyl-CoA carboxylase deficiency [RCV001271414] Chr5:71656799..71656800 [GRCh38]
Chr5:70952626..70952627 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.665A>G (p.Tyr222Cys) single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV000644024] Chr5:71626680 [GRCh38]
Chr5:70922507 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.1216+2T>C single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV000644023] Chr5:71646279 [GRCh38]
Chr5:70942106 [GRCh37]
Chr5:5q13.2
likely pathogenic
NM_022132.5(MCCC2):c.995G>A (p.Arg332Gln) single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV000534214]|Methylcrotonyl-CoA carboxylase deficiency [RCV001271401] Chr5:71635242 [GRCh38]
Chr5:70931069 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.455A>C (p.Lys152Thr) single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV000644022] Chr5:71602577 [GRCh38]
Chr5:70898404 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.864G>A (p.Arg288=) single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV001155000]|not provided [RCV000875620]|not specified [RCV000605370] Chr5:71635003 [GRCh38]
Chr5:70930830 [GRCh37]
Chr5:5q13.2
likely benign|uncertain significance
NM_022132.5(MCCC2):c.625-17G>A single nucleotide variant not specified [RCV000614934] Chr5:71626623 [GRCh38]
Chr5:70922450 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.279A>T (p.Pro93=) single nucleotide variant not specified [RCV000615926] Chr5:71596362 [GRCh38]
Chr5:70892189 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.72C>G (p.His24Gln) single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV000625574] Chr5:71587497 [GRCh38]
Chr5:70883324 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.1521G>A (p.Glu507=) single nucleotide variant not specified [RCV000613136] Chr5:71652701 [GRCh38]
Chr5:70948528 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.709G>C (p.Gly237Arg) single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV000556717] Chr5:71626724 [GRCh38]
Chr5:70922551 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.1574+6G>C single nucleotide variant not specified [RCV000616777] Chr5:71652760 [GRCh38]
Chr5:70948587 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.1150-17_1150-16del deletion not specified [RCV000610974] Chr5:71646193..71646194 [GRCh38]
Chr5:70942020..70942021 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.815T>G (p.Val272Gly) single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV001060906]|Methylcrotonyl-CoA carboxylase deficiency [RCV001271400]|not provided [RCV000595406] Chr5:71634954 [GRCh38]
Chr5:70930781 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.295G>A (p.Glu99Lys) single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV000557643] Chr5:71599672 [GRCh38]
Chr5:70895499 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.1368A>T (p.Ala456=) single nucleotide variant not specified [RCV000614666] Chr5:71649248 [GRCh38]
Chr5:70945075 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.1373+18C>T single nucleotide variant not specified [RCV000605409] Chr5:71649271 [GRCh38]
Chr5:70945098 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.1640C>T (p.Ala547Val) single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV000644021] Chr5:71656808 [GRCh38]
Chr5:70952635 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.54C>G (p.Ala18=) single nucleotide variant not provided [RCV000921502]|not specified [RCV000607642] Chr5:71587479 [GRCh38]
Chr5:70883306 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.688A>G (p.Asn230Asp) single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV000700140] Chr5:71626703 [GRCh38]
Chr5:70922530 [GRCh37]
Chr5:5q13.2
pathogenic
NM_022132.5(MCCC2):c.746C>T (p.Ala249Val) single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV001248483] Chr5:71632128 [GRCh38]
Chr5:70927955 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.999G>T (p.Glu333Asp) single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV000699138] Chr5:71635246 [GRCh38]
Chr5:70931073 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.653C>T (p.Ala218Val) single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV000697287] Chr5:71626668 [GRCh38]
Chr5:70922495 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.539G>A (p.Arg180Gln) single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV000687564] Chr5:71604383 [GRCh38]
Chr5:70900210 [GRCh37]
Chr5:5q13.2
likely benign|uncertain significance
NM_022132.5(MCCC2):c.735dup (p.Val247fs) duplication 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV000707096] Chr5:71626744..71626745 [GRCh38]
Chr5:70922571..70922572 [GRCh37]
Chr5:5q13.2
pathogenic
NM_022132.5(MCCC2):c.1282G>A (p.Ala428Thr) single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV000690509]|Methylcrotonyl-CoA carboxylase deficiency [RCV001271406] Chr5:71649162 [GRCh38]
Chr5:70944989 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.1235A>C (p.Glu412Ala) single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV000705638] Chr5:71649115 [GRCh38]
Chr5:70944942 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.1690T>C (p.Ter564Gln) single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV000691743]|Methylcrotonyl-CoA carboxylase deficiency [RCV001271415] Chr5:71656858 [GRCh38]
Chr5:70952685 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.463C>T (p.Arg155Trp) single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV000686151] Chr5:71602585 [GRCh38]
Chr5:70898412 [GRCh37]
Chr5:5q13.2
pathogenic|likely pathogenic
NM_022132.5(MCCC2):c.1504G>C (p.Glu502Gln) single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV000687191]|Methylcrotonyl-CoA carboxylase deficiency [RCV001271410] Chr5:71652684 [GRCh38]
Chr5:70948511 [GRCh37]
Chr5:5q13.2
uncertain significance
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3 copy number gain not provided [RCV000744323] Chr5:25328..180693344 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3 copy number gain not provided [RCV000744317] Chr5:13648..180905029 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
NM_022132.5(MCCC2):c.1406G>A (p.Arg469His) single nucleotide variant not provided [RCV000998394] Chr5:71650101 [GRCh38]
Chr5:70945928 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.630A>G (p.Ala210=) single nucleotide variant not provided [RCV000976079] Chr5:71626645 [GRCh38]
Chr5:70922472 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.162T>C (p.Asn54=) single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV000924314]|Methylcrotonyl-CoA carboxylase deficiency [RCV001278391] Chr5:71592958 [GRCh38]
Chr5:70888785 [GRCh37]
Chr5:5q13.2
likely benign|uncertain significance
NM_022132.5(MCCC2):c.1095C>T (p.Tyr365=) single nucleotide variant not provided [RCV000937842] Chr5:71643841 [GRCh38]
Chr5:70939668 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.739-7G>A single nucleotide variant not provided [RCV000924615] Chr5:71632114 [GRCh38]
Chr5:70927941 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.1010G>C (p.Arg337Thr) single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV001036916] Chr5:71641013 [GRCh38]
Chr5:70936840 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.1565C>T (p.Ser522Phe) single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV001051241] Chr5:71652745 [GRCh38]
Chr5:70948572 [GRCh37]
Chr5:5q13.2
uncertain significance
NC_000005.10:g.(?_71599649)_(71599770_?)del deletion 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV001033441] Chr5:70895476..70895597 [GRCh37]
Chr5:5q13.2
likely pathogenic
NM_022132.5(MCCC2):c.1407dup (p.Ile470fs) duplication 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV000779478] Chr5:71650101..71650102 [GRCh38]
Chr5:70945928..70945929 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.114C>G (p.Gly38=) single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV000920750] Chr5:71587539 [GRCh38]
Chr5:70883366 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.1281C>T (p.Ala427=) single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV000940148] Chr5:71649161 [GRCh38]
Chr5:70944988 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.1449C>T (p.Ala483=) single nucleotide variant not provided [RCV000942440] Chr5:71650144 [GRCh38]
Chr5:70945971 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.450G>C (p.Val150=) single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV000875952] Chr5:71602572 [GRCh38]
Chr5:70898399 [GRCh37]
Chr5:5q13.2
benign
NM_022132.5(MCCC2):c.1494C>T (p.Ser498=) single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV000941632] Chr5:71652674 [GRCh38]
Chr5:70948501 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.581del (p.Thr194fs) deletion 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV000804187] Chr5:71604425 [GRCh38]
Chr5:70900252 [GRCh37]
Chr5:5q13.2
pathogenic
NM_022132.5(MCCC2):c.430G>T (p.Ala144Ser) single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV000820197] Chr5:71602552 [GRCh38]
Chr5:70898379 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.739-262C>T single nucleotide variant not provided [RCV000844423] Chr5:71631859 [GRCh38]
Chr5:70927686 [GRCh37]
Chr5:5q13.2
benign
NM_022132.5(MCCC2):c.804-261T>C single nucleotide variant not provided [RCV000844424] Chr5:71634682 [GRCh38]
Chr5:70930509 [GRCh37]
Chr5:5q13.2
benign
NM_022132.5(MCCC2):c.1000-187C>G single nucleotide variant not provided [RCV000844425] Chr5:71640816 [GRCh38]
Chr5:70936643 [GRCh37]
Chr5:5q13.2
benign
NM_022132.5(MCCC2):c.1073-209G>A single nucleotide variant not provided [RCV000844426] Chr5:71643610 [GRCh38]
Chr5:70939437 [GRCh37]
Chr5:5q13.2
benign
NM_022132.5(MCCC2):c.1149+179C>T single nucleotide variant not provided [RCV000844427] Chr5:71644074 [GRCh38]
Chr5:70939901 [GRCh37]
Chr5:5q13.2
benign
NM_022132.5(MCCC2):c.1488+312C>T single nucleotide variant not provided [RCV000844429] Chr5:71650495 [GRCh38]
Chr5:70946322 [GRCh37]
Chr5:5q13.2
benign
NM_022132.5(MCCC2):c.1489-233C>T single nucleotide variant not provided [RCV000844433] Chr5:71652436 [GRCh38]
Chr5:70948263 [GRCh37]
Chr5:5q13.2
benign
NM_022132.5(MCCC2):c.129G>A (p.Gln43=) single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV000818681] Chr5:71587554 [GRCh38]
Chr5:70883381 [GRCh37]
Chr5:5q13.2
uncertain significance
GRCh37/hg19 5q13.2(chr5:70613848-70928704)x3 copy number gain not provided [RCV000849328] Chr5:70613848..70928704 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.1043A>G (p.Lys348Arg) single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV000808719] Chr5:71641046 [GRCh38]
Chr5:70936873 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.281+1G>T single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV000794997] Chr5:71596365 [GRCh38]
Chr5:70892192 [GRCh37]
Chr5:5q13.2
likely pathogenic
NM_022132.5(MCCC2):c.1149+177C>T single nucleotide variant not provided [RCV000826251] Chr5:71644072 [GRCh38]
Chr5:70939899 [GRCh37]
Chr5:5q13.2
benign
NM_022132.5(MCCC2):c.*16T>A single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV001151203] Chr5:71656876 [GRCh38]
Chr5:70952703 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.125A>G (p.Tyr42Cys) single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV000794344] Chr5:71587550 [GRCh38]
Chr5:70883377 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.*970G>A single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV001151326] Chr5:71657830 [GRCh38]
Chr5:70953657 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.*1297G>A single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV001151329] Chr5:71658157 [GRCh38]
Chr5:70953984 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.641G>C (p.Gly214Ala) single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV000805067] Chr5:71626656 [GRCh38]
Chr5:70922483 [GRCh37]
Chr5:5q13.2
uncertain significance
Single allele deletion Neurodevelopmental disorder [RCV000787436] Chr5:14685137..149511942 [GRCh37]
Chr5:5p15.2-q32
uncertain significance
NM_022132.5(MCCC2):c.891_892del (p.Lys298fs) deletion 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV000794342] Chr5:71635029..71635030 [GRCh38]
Chr5:70930856..70930857 [GRCh37]
Chr5:5q13.2
pathogenic
NM_022132.5(MCCC2):c.506A>G (p.Tyr169Cys) single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV000808115] Chr5:71602628 [GRCh38]
Chr5:70898455 [GRCh37]
Chr5:5q13.2
uncertain significance
NC_000005.10:g.71587090A>T single nucleotide variant not provided [RCV000844416] Chr5:71587090 [GRCh38]
Chr5:70882917 [GRCh37]
Chr5:5q13.2
benign
NC_000005.10:g.71587123C>G single nucleotide variant not provided [RCV000844418] Chr5:71587123 [GRCh38]
Chr5:70882950 [GRCh37]
Chr5:5q13.2
benign
NM_022132.5(MCCC2):c.1488+3C>T single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV001274210]|not provided [RCV000826296] Chr5:71650186 [GRCh38]
Chr5:70946013 [GRCh37]
Chr5:5q13.2
likely benign|uncertain significance
NM_022132.5(MCCC2):c.440C>T (p.Pro147Leu) single nucleotide variant not provided [RCV001169852] Chr5:71602562 [GRCh38]
Chr5:70898389 [GRCh37]
Chr5:5q13.2
likely pathogenic
GRCh38/hg38 5q11.2-13.2(chr5:58785203-73519962)x1 copy number loss Intellectual disability [RCV000984869] Chr5:58785203..73519962 [GRCh38]
Chr5:5q11.2-13.2
likely pathogenic
NM_022132.5(MCCC2):c.32C>T (p.Pro11Leu) single nucleotide variant not provided [RCV000998393] Chr5:71587457 [GRCh38]
Chr5:70883284 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.1313C>A (p.Thr438Asn) single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV001043040] Chr5:71649193 [GRCh38]
Chr5:70945020 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.1639G>A (p.Ala547Thr) single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV001224162] Chr5:71656807 [GRCh38]
Chr5:70952634 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.701G>A (p.Arg234His) single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV001239047] Chr5:71626716 [GRCh38]
Chr5:70922543 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.326A>G (p.Tyr109Cys) single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV001237411] Chr5:71599703 [GRCh38]
Chr5:70895530 [GRCh37]
Chr5:5q13.2
uncertain significance
NC_000005.10:g.71632121del deletion 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV001203492] Chr5:71632120 [GRCh38]
Chr5:70927947 [GRCh37]
Chr5:5q13.2
pathogenic
NM_022132.5(MCCC2):c.250A>G (p.Arg84Gly) single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV001237424] Chr5:71596333 [GRCh38]
Chr5:70892160 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.181G>T (p.Glu61Ter) single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV001237425] Chr5:71592977 [GRCh38]
Chr5:70888804 [GRCh37]
Chr5:5q13.2
pathogenic
NM_022132.5(MCCC2):c.185A>G (p.His62Arg) single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV001209006] Chr5:71592981 [GRCh38]
Chr5:70888808 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.1103del (p.Gly368fs) deletion 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV001210072] Chr5:71643848 [GRCh38]
Chr5:70939675 [GRCh37]
Chr5:5q13.2
pathogenic
NM_022132.5(MCCC2):c.578G>A (p.Arg193His) single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV001221718] Chr5:71604422 [GRCh38]
Chr5:70900249 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.1574+5G>A single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV001156664] Chr5:71652759 [GRCh38]
Chr5:70948586 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.*843A>C single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV001156775] Chr5:71657703 [GRCh38]
Chr5:70953530 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.*941A>G single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV001156776] Chr5:71657801 [GRCh38]
Chr5:70953628 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.58C>T (p.Pro20Ser) single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV001154159] Chr5:71587483 [GRCh38]
Chr5:70883310 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.*552C>T single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV001154277] Chr5:71657412 [GRCh38]
Chr5:70953239 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.*700G>T single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV001155111] Chr5:71657560 [GRCh38]
Chr5:70953387 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.*1272A>G single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV001151328] Chr5:71658132 [GRCh38]
Chr5:70953959 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.1374-10C>T single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV000925012]|Methylcrotonyl-CoA carboxylase deficiency [RCV001274209] Chr5:71650059 [GRCh38]
Chr5:70945886 [GRCh37]
Chr5:5q13.2
likely benign|uncertain significance
NM_022132.5(MCCC2):c.1014C>T (p.Ile338=) single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV000908433]|Methylcrotonyl-CoA carboxylase deficiency [RCV001271402] Chr5:71641017 [GRCh38]
Chr5:70936844 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.1569C>T (p.Ser523=) single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV000904098]|Methylcrotonyl-CoA carboxylase deficiency [RCV001271412] Chr5:71652749 [GRCh38]
Chr5:70948576 [GRCh37]
Chr5:5q13.2
benign|likely benign
NM_022132.5(MCCC2):c.1017G>A (p.Val339=) single nucleotide variant not provided [RCV000909474] Chr5:71641020 [GRCh38]
Chr5:70936847 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.90G>T (p.Ser30=) single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV000873231] Chr5:71587515 [GRCh38]
Chr5:70883342 [GRCh37]
Chr5:5q13.2
benign
NM_022132.5(MCCC2):c.*1466T>C single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV001153831] Chr5:71658326 [GRCh38]
Chr5:70954153 [GRCh37]
Chr5:5q13.2
benign
NM_022132.5(MCCC2):c.*378T>A single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV001154275] Chr5:71657238 [GRCh38]
Chr5:70953065 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.1108G>A (p.Val370Ile) single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV001203648] Chr5:71643854 [GRCh38]
Chr5:70939681 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.1275G>A (p.Met425Ile) single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV001203651] Chr5:71649155 [GRCh38]
Chr5:70944982 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.914A>G (p.Glu305Gly) single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV001155001]|Methylcrotonyl-CoA carboxylase deficiency [RCV001279170] Chr5:71635161 [GRCh38]
Chr5:70930988 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.226A>T (p.Ile76Leu) single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV001069844] Chr5:71596309 [GRCh38]
Chr5:70892136 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.557del (p.Pro186fs) deletion 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV001211692] Chr5:71604400 [GRCh38]
Chr5:70900227 [GRCh37]
Chr5:5q13.2
pathogenic
NM_022132.5(MCCC2):c.562C>T (p.Arg188Ter) single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV001044034] Chr5:71604406 [GRCh38]
Chr5:70900233 [GRCh37]
Chr5:5q13.2
pathogenic
NM_022132.5(MCCC2):c.456dup (p.Gln153fs) duplication not provided [RCV001008931] Chr5:71602572..71602573 [GRCh38]
Chr5:70898399..70898400 [GRCh37]
Chr5:5q13.2
pathogenic
NM_022132.5(MCCC2):c.*1243G>C single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV001151327] Chr5:71658103 [GRCh38]
Chr5:70953930 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.383+4A>G single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV001154160] Chr5:71599764 [GRCh38]
Chr5:70895591 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.*719A>G single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV001155113] Chr5:71657579 [GRCh38]
Chr5:70953406 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.*548C>T single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV001154276] Chr5:71657408 [GRCh38]
Chr5:70953235 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.*1351G>A single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV001154368] Chr5:71658211 [GRCh38]
Chr5:70954038 [GRCh37]
Chr5:5q13.2
likely benign
NM_022132.5(MCCC2):c.*1649C>T single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV001154371] Chr5:71658509 [GRCh38]
Chr5:70954336 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.*1650G>A single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV001154372] Chr5:71658510 [GRCh38]
Chr5:70954337 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.433T>C (p.Tyr145His) single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV001154161] Chr5:71602555 [GRCh38]
Chr5:70898382 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.*714G>A single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV001155112] Chr5:71657574 [GRCh38]
Chr5:70953401 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.637A>G (p.Met213Val) single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV001218674] Chr5:71626652 [GRCh38]
Chr5:70922479 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.175C>T (p.Arg59Ter) single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV001220292] Chr5:71592971 [GRCh38]
Chr5:70888798 [GRCh37]
Chr5:5q13.2
pathogenic
NM_022132.5(MCCC2):c.794T>C (p.Leu265Pro) single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV001237199] Chr5:71632176 [GRCh38]
Chr5:70928003 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.1225G>A (p.Val409Ile) single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV001155002] Chr5:71649105 [GRCh38]
Chr5:70944932 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.*246A>G single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV001151205] Chr5:71657106 [GRCh38]
Chr5:70952933 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.512-1G>A single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV001207251] Chr5:71604355 [GRCh38]
Chr5:70900182 [GRCh37]
Chr5:5q13.2
pathogenic
NM_022132.5(MCCC2):c.1545G>C (p.Glu515Asp) single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV001230900]|Methylcrotonyl-CoA carboxylase deficiency [RCV001279177] Chr5:71652725 [GRCh38]
Chr5:70948552 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.*1591A>C single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV001154370] Chr5:71658451 [GRCh38]
Chr5:70954278 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.355A>G (p.Ile119Val) single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV001064645] Chr5:71599732 [GRCh38]
Chr5:70895559 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.137A>G (p.Tyr46Cys) single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV001201660] Chr5:71592933 [GRCh38]
Chr5:70888760 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.1583A>G (p.Asp528Gly) single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV001151202] Chr5:71656751 [GRCh38]
Chr5:70952578 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.*191A>T single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV001151204] Chr5:71657051 [GRCh38]
Chr5:70952878 [GRCh37]
Chr5:5q13.2
uncertain significance
NC_000005.10:g.(?_71587406)_(71656880_?)del deletion 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV001033338] Chr5:70883233..70952707 [GRCh37]
Chr5:5q13.2
pathogenic
NM_022132.5(MCCC2):c.1235A>G (p.Glu412Gly) single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV001156663] Chr5:71649115 [GRCh38]
Chr5:70944942 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.*773C>T single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV001156774] Chr5:71657633 [GRCh38]
Chr5:70953460 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.*1539G>T single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV001154369] Chr5:71658399 [GRCh38]
Chr5:70954226 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.1124T>C (p.Val375Ala) single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV001053663]|Methylcrotonyl-CoA carboxylase deficiency [RCV001271405] Chr5:71643870 [GRCh38]
Chr5:70939697 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.913G>T (p.Glu305Ter) single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV001253022] Chr5:71635160 [GRCh38]
Chr5:70930987 [GRCh37]
Chr5:5q13.2
pathogenic
NM_022132.5(MCCC2):c.1216+2T>A single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV001262588] Chr5:71646279 [GRCh38]
Chr5:70942106 [GRCh37]
Chr5:5q13.2
pathogenic
NM_022132.5(MCCC2):c.438C>T (p.Tyr146=) single nucleotide variant Methylcrotonyl-CoA carboxylase deficiency [RCV001279167] Chr5:71602560 [GRCh38]
Chr5:70898387 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.650C>T (p.Thr217Ile) single nucleotide variant Methylcrotonyl-CoA carboxylase deficiency [RCV001279168] Chr5:71626665 [GRCh38]
Chr5:70922492 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.1665G>T (p.Lys555Asn) single nucleotide variant Methylcrotonyl-CoA carboxylase deficiency [RCV001279180] Chr5:71656833 [GRCh38]
Chr5:70952660 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.1553A>G (p.Asn518Ser) single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV001350209] Chr5:71652733 [GRCh38]
Chr5:70948560 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.884A>G (p.Asn295Ser) single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV001294936] Chr5:71635023 [GRCh38]
Chr5:70930850 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.129+3A>G single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV001312292] Chr5:71587557 [GRCh38]
Chr5:70883384 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.1300G>C (p.Val434Leu) single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV001339747] Chr5:71649180 [GRCh38]
Chr5:70945007 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.1171T>C (p.Cys391Arg) single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV001300505] Chr5:71646232 [GRCh38]
Chr5:70942059 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.617T>C (p.Ile206Thr) single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV001307546] Chr5:71604461 [GRCh38]
Chr5:70900288 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.1501G>A (p.Asp501Asn) single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV001334141] Chr5:71652681 [GRCh38]
Chr5:70948508 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.196+3A>G single nucleotide variant Methylcrotonyl-CoA carboxylase deficiency [RCV001279163] Chr5:71592995 [GRCh38]
Chr5:70888822 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.286C>G (p.Pro96Ala) single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV001303114] Chr5:71599663 [GRCh38]
Chr5:70895490 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.955G>A (p.Gly319Arg) single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV001334142] Chr5:71635202 [GRCh38]
Chr5:70931029 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.385G>A (p.Val129Ile) single nucleotide variant Methylcrotonyl-CoA carboxylase deficiency [RCV001279165] Chr5:71602507 [GRCh38]
Chr5:70898334 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.1488+10del deletion Methylcrotonyl-CoA carboxylase deficiency [RCV001279176] Chr5:71650193 [GRCh38]
Chr5:70946020 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.1653A>G (p.Ala551=) single nucleotide variant Methylcrotonyl-CoA carboxylase deficiency [RCV001279179] Chr5:71656821 [GRCh38]
Chr5:70952648 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.258A>G (p.Arg86=) single nucleotide variant Methylcrotonyl-CoA carboxylase deficiency [RCV001279164] Chr5:71596341 [GRCh38]
Chr5:70892168 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.1344A>G (p.Gly448=) single nucleotide variant Methylcrotonyl-CoA carboxylase deficiency [RCV001279173] Chr5:71649224 [GRCh38]
Chr5:70945051 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.*6A>G single nucleotide variant Methylcrotonyl-CoA carboxylase deficiency [RCV001279182] Chr5:71656866 [GRCh38]
Chr5:70952693 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.1674del (p.Phe558fs) deletion 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV001339925] Chr5:71656842 [GRCh38]
Chr5:70952669 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.1663A>G (p.Lys555Glu) single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV001309509] Chr5:71656831 [GRCh38]
Chr5:70952658 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.248C>G (p.Pro83Arg) single nucleotide variant 3-methylcrotonyl CoA carboxylase 2 deficiency [RCV001320382] Chr5:71596331 [GRCh38]
Chr5:70892158 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.1206A>G (p.Gln402=) single nucleotide variant Methylcrotonyl-CoA carboxylase deficiency [RCV001279172] Chr5:71646267 [GRCh38]
Chr5:70942094 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.1120G>A (p.Gly374Arg) single nucleotide variant Methylcrotonyl-CoA carboxylase deficiency [RCV001279171] Chr5:71643866 [GRCh38]
Chr5:70939693 [GRCh37]
Chr5:5q13.2
uncertain significance
NM_022132.5(MCCC2):c.1574+5G>T single nucleotide variant Methylcrotonyl-CoA carboxylase deficiency [RCV001279178] Chr5:71652759 [GRCh38]
Chr5:70948586 [GRCh37]
Chr5:5q13.2
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6937 AgrOrtholog
COSMIC MCCC2 COSMIC
Ensembl Genes ENSG00000131844 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000275300 UniProtKB/TrEMBL
  ENSG00000281742 UniProtKB/TrEMBL
Ensembl Protein ENSP00000343657 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000420994 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000423202 UniProtKB/TrEMBL
  ENSP00000425474 UniProtKB/TrEMBL
  ENSP00000478750 UniProtKB/TrEMBL
  ENSP00000483794 UniProtKB/TrEMBL
  ENSP00000486062 UniProtKB/TrEMBL
  ENSP00000486135 UniProtKB/TrEMBL
  ENSP00000486535 UniProtKB/TrEMBL
  ENSP00000486592 UniProtKB/TrEMBL
Ensembl Transcript ENST00000340941 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000509358 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000509539 UniProtKB/TrEMBL
  ENST00000512218 UniProtKB/TrEMBL
  ENST00000613643 UniProtKB/TrEMBL
  ENST00000616108 UniProtKB/TrEMBL
  ENST00000626890 UniProtKB/TrEMBL
  ENST00000628261 UniProtKB/TrEMBL
  ENST00000628716 UniProtKB/TrEMBL
  ENST00000629193 UniProtKB/TrEMBL
GTEx ENSG00000131844 GTEx
  ENSG00000275300 GTEx
  ENSG00000281742 GTEx
HGNC ID HGNC:6937 ENTREZGENE
Human Proteome Map MCCC2 Human Proteome Map
InterPro AcCoA_carboxyl UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ClpP/crotonase-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  COA_CT_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  COA_CT_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:64087 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 64087 ENTREZGENE
OMIM 210210 OMIM
  609014 OMIM
Pfam Carboxyl_trans UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB MCCC2 RGD, PharmGKB
PROSITE COA_CT_CTER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  COA_CT_NTER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF52096 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0G2JM88_HUMAN UniProtKB/TrEMBL
  A0A0S2Z5R4_HUMAN UniProtKB/TrEMBL
  A0A140VK29 ENTREZGENE, UniProtKB/TrEMBL
  D6R9R1_HUMAN UniProtKB/TrEMBL
  D6RD67_HUMAN UniProtKB/TrEMBL
  D6RDF7_HUMAN UniProtKB/TrEMBL
  MCCB_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary A6NIY9 UniProtKB/Swiss-Prot
  Q96C27 UniProtKB/Swiss-Prot
  Q9Y4L7 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2021-03-22 MCCC2  methylcrotonyl-CoA carboxylase subunit 2  MCCC2  methylcrotonoyl-CoA carboxylase 2  Symbol and/or name change 19259463 PROVISIONAL
2015-12-08 MCCC2  methylcrotonoyl-CoA carboxylase 2    methylcrotonoyl-CoA carboxylase 2 (beta)  Symbol and/or name change 5135510 APPROVED
2011-07-27 MCCC2  methylcrotonoyl-CoA carboxylase 2 (beta)  MCCC2  methylcrotonoyl-Coenzyme A carboxylase 2 (beta)  Symbol and/or name change 5135510 APPROVED