{{Rsnum
|rsid=2270968
|Gene=MCCC1
|Chromosome=3
|position=183037421
|Orientation=minus
|ReferenceAllele=A
|MissenseAllele=C
|GMAF=0.4775
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;C)
|geno3=(C;C)
|Gene_s=MCCC1
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;C)
| geno3=(C;C)
| CEU | 11.6 | 45.5 | 42.9
| HCB | 45.2 | 46.7 | 8.1
| JPT | 42.3 | 48.6 | 9.0
| YRI | 63.0 | 31.5 | 5.5
| ASW | 45.6 | 49.1 | 5.3
| CHB | 45.2 | 46.7 | 8.1
| CHD | 41.3 | 51.4 | 7.3
| GIH | 24.8 | 43.6 | 31.7
| LWK | 71.8 | 23.6 | 4.5
| MEX | 17.2 | 53.4 | 29.3
| MKK | 42.9 | 44.2 | 12.8
| TSI | 6.0 | 43.0 | 51.0
| HapMapRevision=28
}}{{Venter SNP
|rsid=2270968
|allele=G
|frequency=0.742
|uid=1103656313763
|type=homozygous_SNP
|hugo=MCCC1
|ensembl gene=ENSG00000078070
|ensembl transcript=ENST00000265594
|sift=TOLERATED
|disease=Defects in MCCC1 are the cause of 3- methylcrotonylglycinuria type I (MCGI) (MIM:210200); also designated CGA or CG2. MCGI is a recessive disease that is characterized by muscular hypotonia and atrophy, probably of spinal origin.
}}

{{GET Evidence
|gene=MCCC1
|aa_change=His464Pro
|aa_change_short=H464P
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs2270968
|overall_frequency_n=6283
|overall_frequency_d=10758
|overall_frequency=0.584031
|n_genomes=34
|n_genomes_annotated=0
|n_haplomes=51
|n_articles=0
|n_articles_annotated=0
|qualityscore_in_silico=2
|qualitycomment_in_silico=Y
|gene_in_genetests=Y
|genetests_testable=Y
|nblosum100=5
|autoscore=2
|n_web_uneval=2
}}

{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}