{{Rsnum
|rsid=12749581
|Gene=MTR
|Chromosome=1
|position=236803548
|Orientation=plus
|ReferenceAllele=G
|MissenseAllele=A
|GMAF=0.002296
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=MTR
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 0.0 | 1.5 | 98.5
| HCB | 0.0 | 0.0 | 100.0
| JPT | 0.0 | 0.0 | 100.0
| YRI | 0.0 | 0.0 | 100.0
| ASW | 0.0 | 0.0 | 0.0
| CHB | 0.0 | 0.0 | 100.0
| CHD | 0.0 | 0.0 | 0.0
| GIH | 0.0 | 0.0 | 0.0
| LWK | 0.0 | 0.0 | 0.0
| MEX | 0.0 | 0.0 | 0.0
| MKK | 0.0 | 0.0 | 0.0
| TSI | 0.0 | 0.0 | 0.0
| HapMapRevision=28
}}{{Venter SNP
|rsid=12749581
|allele=A
|frequency=0.008
|uid=1103675372481
|type=heterozygous_SNP
|hugo=MTR
|ensembl gene=ENSG00000116984
|ensembl transcript=ENST00000264178
|sift=AFFECT FUNCTION
|disease=Defects in MTR are the cause of methylcobalamin deficiency type G (cblG) (MIM:250940); also known as homocystinuria-megaloblastic anemia complementation type G. It is an autosomal recessive inherited disease that causes mental retardation, macrocytic anemia, and homocystinuria. Mild deficiency in MS activity could be associated with mild hyperhomocysteinemia, a risk factor for cardiovascular disease and possibly neural tube defects. MS mutations could also be involved in tumorigenesis.
}}

{{GET Evidence
|gene=MTR
|aa_change=Arg52Gln
|aa_change_short=R52Q
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs12749581
|overall_frequency_n=53
|overall_frequency_d=10758
|overall_frequency=0.00492657
|n_genomes=2
|n_genomes_annotated=0
|n_haplomes=2
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|pph2_score=0.136
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=0
|autoscore=3
|n_web_uneval=6
}}

{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | HumanOmni1Quad}}