{{Rsnum
|rsid=1042917
|Gene=COL6A2
|Chromosome=21
|position=46125854
|Orientation=plus
|ReferenceAllele=G
|MissenseAllele=A
|GMAF=0.4421
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=COL6A2
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 27.4 | 38.9 | 33.6
| HCB | 17.0 | 51.1 | 31.9
| JPT | 15.3 | 54.1 | 30.6
| YRI | 2.1 | 32.2 | 65.7
| ASW | 8.8 | 38.6 | 52.6
| CHB | 17.0 | 51.1 | 31.9
| CHD | 19.4 | 51.9 | 28.7
| GIH | 11.9 | 46.5 | 41.6
| LWK | 5.7 | 30.5 | 63.8
| MEX | 50.0 | 44.8 | 5.2
| MKK | 0.0 | 0.0 | 0.0
| TSI | 27.5 | 47.1 | 25.5
| HapMapRevision=28
}}{{Venter SNP
|rsid=1042917
|allele=A
|frequency=0.426
|uid=1103643135584
|type=homozygous_SNP
|hugo=COL6A2
|ensembl gene=ENSG00000142173
|ensembl transcript=ENST00000300527
|sift=TOLERATED
|disease=Defects in COL6A2 are a cause of Ullrich congenital muscular dystrophy (UCMD) (MIM:254090); also known as Ullrich scleroatonic muscular dystrophy. UCMD is an autosomal recessive congenital myopathy characterized by muscle weakness and multiple joint contractures, generally noted at birth or early infancy. The clinical course is more severe than in Bethlem myopathy.
}}

{{PMID Auto
|PMID=20466643
|Title=[Development of 3-enzyme pyrosequencing system and its application in rapid diagnosis of Down's syndrome].
}}

{{GET Evidence
|gene=COL6A2
|aa_change=Arg680His
|aa_change_short=R680H
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs1042917
|overall_frequency_n=4448
|overall_frequency_d=10758
|overall_frequency=0.41346
|n_genomes=20
|n_genomes_annotated=0
|n_haplomes=26
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|pph2_score=0.999
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=1
|autoscore=4
|n_web_uneval=2
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}