MCC1D
MCID: 3MT011
MIFTS: 30

3-Methylcrotonyl-Coa Carboxylase 1 Deficiency (MCC1D)

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency

MalaCards integrated aliases for 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency:

Name: 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency 58 13
3 Methylcrotonyl-Coa Carboxylase 1 Deficiency 54 30 6 41
Methylcrotonylglycinuria Type I 58 76
Mcc1 Deficiency 58 76
Mccd Type 1 58 76
Mcc1d 58 76
3-Methylcrotonoyl-Coa Carboxylase 1 Deficiency 76
3-Methylcrotonyl Coa Carboxylase 1 Deficiency 74
3 Methylcrotonyl-Coa Carboxylase Deficiency 54
3 Alpha Methylcrotonylglycinuria 1 54
3-Methylcrotonyl-Coa Carboxylase 1 13
3-Methylcrotonylglycinuria Type I 76
3-Methylcrotonylglycinuria I 58
3 Methylcrotonylglycinuria 54
Mcc 1 Deficiency 54
Mcgi 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
highly variable phenotype
may present in infancy with episodes of severe metabolic decompensation
may be present in asymptomatic adults
not responsive to biotin treatment
genetic heterogeneity (see mcc2 deficiency )
detected in 1/50,000 in neonatal screening programs


HPO:

33
3-methylcrotonyl-coa carboxylase 1 deficiency:
Inheritance heterogeneous autosomal recessive inheritance


Classifications:



Summaries for 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency

UniProtKB/Swiss-Prot : 76 3-methylcrotonoyl-CoA carboxylase 1 deficiency: An autosomal recessive disorder of leucine catabolism. The phenotype is variable, ranging from neonatal onset with severe neurological involvement to asymptomatic adults. There is a characteristic organic aciduria with massive excretion of 3-hydroxyisovaleric acid and 3- methylcrotonylglycine, usually in combination with a severe secondary carnitine deficiency.

MalaCards based summary : 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency, also known as 3 methylcrotonyl-coa carboxylase 1 deficiency, is related to 3-methylcrotonyl-coa carboxylase deficiency, and has symptoms including seizures, vomiting and lethargy. An important gene associated with 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency is MCCC1 (Methylcrotonoyl-CoA Carboxylase 1). Affiliated tissues include cortex, and related phenotypes are intellectual disability and seizures

Description from OMIM: 210200

Related Diseases for 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency

Diseases related to 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 3-methylcrotonyl-coa carboxylase deficiency 11.6

Symptoms & Phenotypes for 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency

Human phenotypes related to 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency:

33 (show all 18)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 33 HP:0001249
2 seizures 33 HP:0001250
3 muscular hypotonia 33 HP:0001252
4 hyperreflexia 33 HP:0001347
5 failure to thrive 33 HP:0001508
6 global developmental delay 33 HP:0001263
7 feeding difficulties in infancy 33 HP:0008872
8 vomiting 33 HP:0002013
9 hypoglycemia 33 HP:0001943
10 coma 33 HP:0001259
11 lethargy 33 HP:0001254
12 generalized hypotonia 33 HP:0001290
13 opisthotonus 33 HP:0002179
14 ketonuria 33 HP:0002919
15 acute hepatic steatosis 33 HP:0006573
16 acute hyperammonemia 33 HP:0008281
17 psychomotor retardation 33 HP:0025356
18 episodic metabolic acidosis 33 HP:0004911

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
seizures
hyperreflexia
coma
lethargy
opisthotonus
more
Abdomen Gastrointestinal:
vomiting
feeding difficulties

Metabolic Features:
metabolic acidosis, episodic
metabolic decompensation precipitated by illness
hypoglycemia, acute

Abdomen Liver:
macro- and microvesicular steatosis, acute

Growth Other:
failure to thrive

Muscle Soft Tissue:
hypotonia

Respiratory:
apnea, acute

Laboratory Abnormalities:
urinary excretion of 3-methylcrotonylglycine, chronic
urinary excretion of 3-hydroxyisovaleric acid, chronic
secondary decrease of plasma free carnitine
hyperammonemia, acute
ketonuria, acute
more

Clinical features from OMIM:

210200

UMLS symptoms related to 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency:


seizures, vomiting, lethargy, opisthotonus

Drugs & Therapeutics for 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency

Search Clinical Trials , NIH Clinical Center for 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency

Genetic Tests for 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency

Genetic tests related to 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency:

# Genetic test Affiliating Genes
1 3 Methylcrotonyl-Coa Carboxylase 1 Deficiency 30 MCCC1

Anatomical Context for 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency

MalaCards organs/tissues related to 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency:

42
Cortex

Publications for 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency

Articles related to 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency:

(show all 44)
# Title Authors Year
1
Primary and maternal 3-methylcrotonyl-CoA carboxylase deficiency: insights from the Israel newborn screening program. ( 26566957 )
2016
2
3-Methylcrotonyl-CoA carboxylase deficiency: to screen or not to screen? ( 26660660 )
2016
3
3-Methylcrotonyl-CoA carboxylase deficiency: Mutational spectrum derived from comprehensive newborn screening. ( 27601257 )
2016
4
An asymptomatic mother diagnosed with 3-methylcrotonyl-CoA carboxylase deficiency after newborn screening. ( 25381946 )
2015
5
Is L-Carnitine Supplementation Beneficial in 3-Methylcrotonyl-CoA Carboxylase Deficiency? ( 25732994 )
2015
6
Neurochemical evidence that the metabolites accumulating in 3-methylcrotonyl-CoA carboxylase deficiency induce oxidative damage in cerebral cortex of young rats. ( 23053545 )
2013
7
Analysis of cases of 3-methylcrotonyl CoA carboxylase deficiency (3-MCCD) in the California newborn screening program reported in the state database. ( 24103308 )
2013
8
3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals. ( 22642865 )
2012
9
Mutational spectrum in eight Korean patients with 3-methylcrotonyl-CoA carboxylase deficiency. ( 22150417 )
2012
10
A single mutation in MCCC1 or MCCC2 as a potential cause of positive screening for 3-methylcrotonyl-CoA carboxylase deficiency. ( 22264772 )
2012
11
3-Methylcrotonyl-CoA carboxylase deficiency: phenotypic variability in a family. ( 19339287 )
2009
12
Cryptic exon activation by disruption of exon splice enhancer: novel mechanism causing 3-methylcrotonyl-CoA carboxylase deficiency. ( 19706617 )
2009
13
Recurrent attacks of status epilepticus as predominant symptom in 3-methylcrotonyl-CoA carboxylase deficiency. ( 17869468 )
2008
14
A Delphi-based consensus clinical practice protocol for the diagnosis and management of 3-methylcrotonyl CoA carboxylase deficiency. ( 18155630 )
2008
15
Anesthetic management of a patient with 3-methylcrotonyl-CoA carboxylase deficiency. ( 18633047 )
2008
16
3-methylcrotonyl-CoA carboxylase deficiency and severe multiple sclerosis. ( 17275669 )
2007
17
Novel mutations in five Japanese patients with 3-methylcrotonyl-CoA carboxylase deficiency. ( 17968484 )
2007
18
3-Methylcrotonyl-CoA carboxylase deficiency. A long-term outcome. ( 16680273 )
2006
19
Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency: population heterogeneity of MCCA and MCCB mutations and impact on risk assessment. ( 16835865 )
2006
20
3-Methylcrotonyl-CoA carboxylase deficiency: metabolic decompensation in a noncompliant child detected through newborn screening. ( 17142544 )
2006
21
Molecular mechanism of dominant expression in 3-methylcrotonyl-CoA carboxylase deficiency. ( 15868465 )
2005
22
Consanguineous 3-methylcrotonyl-CoA carboxylase deficiency: early-onset necrotizing encephalopathy with lethal outcome. ( 15877210 )
2005
23
3-Methylcrotonyl-CoA carboxylase deficiency: mutation analysis in 28 probands, 9 symptomatic and 19 detected by newborn screening. ( 16010683 )
2005
24
Severe hypoglycaemia in isolated 3-methylcrotonyl-CoA carboxylase deficiency; a rare, severe clinical presentation. ( 16435207 )
2005
25
Fungal metabolic model for 3-methylcrotonyl-CoA carboxylase deficiency. ( 14612443 )
2004
26
Isolated 3-methylcrotonyl-CoA carboxylase deficiency: evidence for an allele-specific dominant negative effect and responsiveness to biotin therapy. ( 15359379 )
2004
27
Evaluation of 3-methylcrotonyl-CoA carboxylase deficiency detected by tandem mass spectrometry newborn screening. ( 12872837 )
2003
28
Leukodystrophy and CSF purine abnormalities associated with isolated 3-methylcrotonyl-CoA carboxylase deficiency. ( 11893004 )
2002
29
The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency. ( 11181649 )
2001
30
Cloning of the human MCCA and MCCB genes and mutations therein reveal the molecular cause of 3-methylcrotonyl-CoA: carboxylase deficiency. ( 11406611 )
2001
31
The molecular basis of 3-methylcrotonylglycinuria, a disorder of leucine catabolism. ( 11170888 )
2001
32
3-methylcrotonyl-CoA carboxylase deficiency in an infant with cardiomyopathy, in her brother with developmental delay and in their asymptomatic father. ( 11131348 )
2000
33
Metabolic stroke in isolated 3-methylcrotonyl-CoA carboxylase deficiency. ( 10485305 )
1999
34
Partial 3-methylcrotonyl-CoA carboxylase deficiency in an infant with fatal outcome due to progressive respiratory failure. ( 9537490 )
1998
35
Late-infantile 3-methylcrotonyl-CoA carboxylase deficiency presenting as global developmental delay. ( 9584271 )
1998
36
Isolated 3-methylcrotonyl-CoA carboxylase deficiency in a 15-year-old girl. ( 9187484 )
1997
37
Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase deficiency: long-term outcome in a case with neonatal onset. ( 8831079 )
1996
38
Glycine and L-carnitine therapy in 3-methylcrotonyl-CoA carboxylase deficiency. ( 7474896 )
1995
39
3-Hydroxyisovalerylcarnitine in 3-methylcrotonyl-CoA carboxylase deficiency. ( 8598640 )
1995
40
Isolated (biotin-resistant) 3-methylcrotonyl-CoA carboxylase deficiency: four sibs devoid of pathology. ( 8598650 )
1995
41
Isolated 3-methylcrotonyl-CoA carboxylase deficiency in a 16-month-old child. ( 1779635 )
1991
42
Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase deficiency presenting as a Reye syndrome-like illness. ( 2515383 )
1989
43
Isolated biotin-resistant 3-methylcrotonyl CoA carboxylase deficiency presenting with life-threatening hypoglycaemia. ( 6441868 )
1984
44
Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase deficiency in two sibs. ( 7128647 )
1982

Variations for 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency

UniProtKB/Swiss-Prot genetic disease variations for 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency:

76 (show all 33)
# Symbol AA change Variation ID SNP ID
1 MCCC1 p.Ala289Val VAR_012785 rs132611407
2 MCCC1 p.Met325Arg VAR_012786 rs119103212
3 MCCC1 p.Arg385Ser VAR_012787 rs119103213
4 MCCC1 p.Leu437Pro VAR_012788 rs119103215
5 MCCC1 p.Asp532His VAR_012790 rs119103214
6 MCCC1 p.Ser535Phe VAR_012791 rs119103216
7 MCCC1 p.Cys276Arg VAR_067197 rs773433541
8 MCCC1 p.Arg281Gln VAR_067198 rs754437245
9 MCCC1 p.Gly46Glu VAR_072486 rs199517715
10 MCCC1 p.Asn56Lys VAR_072487 rs105752069
11 MCCC1 p.Met65Leu VAR_072488
12 MCCC1 p.Gln123His VAR_072489
13 MCCC1 p.Ile125Met VAR_072490
14 MCCC1 p.Glu134Lys VAR_072491 rs122906916
15 MCCC1 p.Met160Arg VAR_072492
16 MCCC1 p.Gly180Val VAR_072493 rs748201122
17 MCCC1 p.Ser187Pro VAR_072494 rs757362635
18 MCCC1 p.Arg232Trp VAR_072495 rs727504004
19 MCCC1 p.Ala268Asp VAR_072496
20 MCCC1 p.Glu288Gly VAR_072497 rs746500530
21 MCCC1 p.Ala291Val VAR_072498 rs201041864
22 MCCC1 p.Gln372Pro VAR_072499 rs755328329
23 MCCC1 p.Gly379Asp VAR_072500
24 MCCC1 p.Gly379Ser VAR_072501 rs887877405
25 MCCC1 p.His380Pro VAR_072502 rs794727036
26 MCCC1 p.Ile434Met VAR_072503 rs376289130
27 MCCC1 p.Val439Met VAR_072504 rs398124352
28 MCCC1 p.Ile460Met VAR_072505 rs119103218
29 MCCC1 p.Tyr79Cys VAR_077284
30 MCCC1 p.Ser120Phe VAR_077285
31 MCCC1 p.Gly130Ser VAR_077286 rs202197951
32 MCCC1 p.Gly209Val VAR_077287 rs186209189
33 MCCC1 p.Arg444His VAR_077290 rs768785753

ClinVar genetic disease variations for 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency:

6 (show top 50) (show all 130)
# Gene Variation Type Significance SNP ID Assembly Location
1 MCCC1 NM_020166.4(MCCC1): c.974T> G (p.Met325Arg) single nucleotide variant Pathogenic/Likely pathogenic rs119103212 GRCh37 Chromosome 3, 182763310: 182763310
2 MCCC1 NM_020166.4(MCCC1): c.974T> G (p.Met325Arg) single nucleotide variant Pathogenic/Likely pathogenic rs119103212 GRCh38 Chromosome 3, 183045522: 183045522
3 MCCC1 NM_020166.4(MCCC1): c.1155A> C (p.Arg385Ser) single nucleotide variant Pathogenic rs119103213 GRCh37 Chromosome 3, 182759467: 182759467
4 MCCC1 NM_020166.4(MCCC1): c.1155A> C (p.Arg385Ser) single nucleotide variant Pathogenic rs119103213 GRCh38 Chromosome 3, 183041679: 183041679
5 MCCC1 NM_020166.4(MCCC1): c.1594G> C (p.Asp532His) single nucleotide variant Pathogenic rs119103214 GRCh37 Chromosome 3, 182755006: 182755006
6 MCCC1 NM_020166.4(MCCC1): c.1594G> C (p.Asp532His) single nucleotide variant Pathogenic rs119103214 GRCh38 Chromosome 3, 183037218: 183037218
7 MCCC1 NM_020166.4(MCCC1): c.1310T> C (p.Leu437Pro) single nucleotide variant Pathogenic rs119103215 GRCh37 Chromosome 3, 182756881: 182756881
8 MCCC1 NM_020166.4(MCCC1): c.1310T> C (p.Leu437Pro) single nucleotide variant Pathogenic rs119103215 GRCh38 Chromosome 3, 183039093: 183039093
9 MCCC1 NM_020166.4(MCCC1): c.1604C> T (p.Ser535Phe) single nucleotide variant Pathogenic rs119103216 GRCh37 Chromosome 3, 182751856: 182751856
10 MCCC1 NM_020166.4(MCCC1): c.1604C> T (p.Ser535Phe) single nucleotide variant Pathogenic rs119103216 GRCh38 Chromosome 3, 183034068: 183034068
11 MCCC1 NM_020166.4(MCCC1): c.2079del (p.Val694Terfs) deletion Pathogenic rs119103217 GRCh37 Chromosome 3, 182733325: 182733325
12 MCCC1 NM_020166.4(MCCC1): c.2079del (p.Val694Terfs) deletion Pathogenic rs119103217 GRCh38 Chromosome 3, 183015537: 183015537
13 MCCC1 NM_020166.4(MCCC1): c.1380T> G (p.Ile460Met) single nucleotide variant Pathogenic rs119103218 GRCh37 Chromosome 3, 182755220: 182755220
14 MCCC1 NM_020166.4(MCCC1): c.1380T> G (p.Ile460Met) single nucleotide variant Pathogenic rs119103218 GRCh38 Chromosome 3, 183037432: 183037432
15 MCCC1 NM_020166.4(MCCC1): c.1074del (p.Trp358Cysfs) deletion Pathogenic rs398124350 GRCh37 Chromosome 3, 182763210: 182763210
16 MCCC1 NM_020166.4(MCCC1): c.1074del (p.Trp358Cysfs) deletion Pathogenic rs398124350 GRCh38 Chromosome 3, 183045422: 183045422
17 MCCC1 NM_020166.4(MCCC1): c.1277T> C (p.Val426Ala) single nucleotide variant Likely pathogenic rs398124351 GRCh37 Chromosome 3, 182756914: 182756914
18 MCCC1 NM_020166.4(MCCC1): c.1277T> C (p.Val426Ala) single nucleotide variant Likely pathogenic rs398124351 GRCh38 Chromosome 3, 183039126: 183039126
19 MCCC1 NM_020166.4(MCCC1): c.1315G> A (p.Val439Met) single nucleotide variant Uncertain significance rs398124352 GRCh37 Chromosome 3, 182756876: 182756876
20 MCCC1 NM_020166.4(MCCC1): c.1315G> A (p.Val439Met) single nucleotide variant Uncertain significance rs398124352 GRCh38 Chromosome 3, 183039088: 183039088
21 MCCC1 NM_020166.4(MCCC1): c.1905delA (p.Lys635Asnfs) deletion Pathogenic rs727504001 GRCh37 Chromosome 3, 182737990: 182737990
22 MCCC1 NM_020166.4(MCCC1): c.1905delA (p.Lys635Asnfs) deletion Pathogenic rs727504001 GRCh38 Chromosome 3, 183020202: 183020202
23 MCCC1 NM_020166.4(MCCC1): c.1614G> A (p.Ser538=) single nucleotide variant Conflicting interpretations of pathogenicity rs34749281 GRCh37 Chromosome 3, 182751846: 182751846
24 MCCC1 NM_020166.4(MCCC1): c.1614G> A (p.Ser538=) single nucleotide variant Conflicting interpretations of pathogenicity rs34749281 GRCh38 Chromosome 3, 183034058: 183034058
25 MCCC1 NM_020166.4(MCCC1): c.1526delG (p.Cys509Serfs) deletion Pathogenic rs727504002 GRCh37 Chromosome 3, 182755074: 182755074
26 MCCC1 NM_020166.4(MCCC1): c.1526delG (p.Cys509Serfs) deletion Pathogenic rs727504002 GRCh38 Chromosome 3, 183037286: 183037286
27 MCCC1 NM_020166.4(MCCC1): c.873G> A (p.Ala291=) single nucleotide variant Uncertain significance rs138794621 GRCh37 Chromosome 3, 182775099: 182775099
28 MCCC1 NM_020166.4(MCCC1): c.873G> A (p.Ala291=) single nucleotide variant Uncertain significance rs138794621 GRCh38 Chromosome 3, 183057311: 183057311
29 MCCC1 NM_020166.4(MCCC1): c.640-1G> A single nucleotide variant Pathogenic rs727504005 GRCh37 Chromosome 3, 182788909: 182788909
30 MCCC1 NM_020166.4(MCCC1): c.640-1G> A single nucleotide variant Pathogenic rs727504005 GRCh38 Chromosome 3, 183071121: 183071121
31 MCCC1 NM_020166.4(MCCC1): c.137-2A> G single nucleotide variant Pathogenic rs727504006 GRCh37 Chromosome 3, 182810335: 182810335
32 MCCC1 NM_020166.4(MCCC1): c.137-2A> G single nucleotide variant Pathogenic rs727504006 GRCh38 Chromosome 3, 183092547: 183092547
33 MCCC1 NM_020166.4(MCCC1): c.1114C> T (p.Gln372Ter) single nucleotide variant Pathogenic rs544349961 GRCh37 Chromosome 3, 182759508: 182759508
34 MCCC1 NM_020166.4(MCCC1): c.1114C> T (p.Gln372Ter) single nucleotide variant Pathogenic rs544349961 GRCh38 Chromosome 3, 183041720: 183041720
35 MCCC1 NM_020166.4(MCCC1): c.640-2A> G single nucleotide variant Pathogenic/Likely pathogenic rs772395858 GRCh37 Chromosome 3, 182788910: 182788910
36 MCCC1 NM_020166.4(MCCC1): c.640-2A> G single nucleotide variant Pathogenic/Likely pathogenic rs772395858 GRCh38 Chromosome 3, 183071122: 183071122
37 MCCC1 NM_020166.4(MCCC1): c.1193_1194delTG (p.Val398Glyfs) deletion Pathogenic rs796051985 GRCh38 Chromosome 3, 183041640: 183041641
38 MCCC1 NM_020166.4(MCCC1): c.1193_1194delTG (p.Val398Glyfs) deletion Pathogenic rs796051985 GRCh37 Chromosome 3, 182759428: 182759429
39 MCCC1 NM_020166.4(MCCC1): c.841C> T (p.Arg281Ter) single nucleotide variant Pathogenic rs185741664 GRCh38 Chromosome 3, 183057343: 183057343
40 MCCC1 NM_020166.4(MCCC1): c.841C> T (p.Arg281Ter) single nucleotide variant Pathogenic rs185741664 GRCh37 Chromosome 3, 182775131: 182775131
41 MCCC1 NM_020166.4(MCCC1): c.137G> A (p.Gly46Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs199517715 GRCh38 Chromosome 3, 183092545: 183092545
42 MCCC1 NM_020166.4(MCCC1): c.137G> A (p.Gly46Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs199517715 GRCh37 Chromosome 3, 182810333: 182810333
43 MCCC1 NM_020166.4(MCCC1): c.1772G> A (p.Ser591Asn) single nucleotide variant Likely benign rs569721834 GRCh38 Chromosome 3, 183022514: 183022514
44 MCCC1 NM_020166.4(MCCC1): c.1772G> A (p.Ser591Asn) single nucleotide variant Likely benign rs569721834 GRCh37 Chromosome 3, 182740302: 182740302
45 MCCC1 NM_020166.4(MCCC1): c.231G> A (p.Ala77=) single nucleotide variant Conflicting interpretations of pathogenicity rs144230304 GRCh38 Chromosome 3, 183092451: 183092451
46 MCCC1 NM_020166.4(MCCC1): c.231G> A (p.Ala77=) single nucleotide variant Conflicting interpretations of pathogenicity rs144230304 GRCh37 Chromosome 3, 182810239: 182810239
47 MCCC1 NM_020166.4(MCCC1): c.980C> G (p.Ser327Ter) single nucleotide variant Pathogenic rs750484977 GRCh37 Chromosome 3, 182763304: 182763304
48 MCCC1 NM_020166.4(MCCC1): c.980C> G (p.Ser327Ter) single nucleotide variant Pathogenic rs750484977 GRCh38 Chromosome 3, 183045516: 183045516
49 MCCC1 NM_020166.4(MCCC1): c.1894C> T (p.Pro632Ser) single nucleotide variant Uncertain significance rs142867987 GRCh38 Chromosome 3, 183020213: 183020213
50 MCCC1 NM_020166.4(MCCC1): c.1894C> T (p.Pro632Ser) single nucleotide variant Uncertain significance rs142867987 GRCh37 Chromosome 3, 182738001: 182738001

Expression for 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency

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Pathways for 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency

GO Terms for 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency

Sources for 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency

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