Variant (rsID / SNP)

rs113042166

rs113042166 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MTR. Location: chromosome 1, position 237,049,631. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

MTRBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 1:237049631
Cytoband: 1q43
HGVS: NM_000254.3(MTR):c.2815G>C (p.Gly939Arg)
Allele change: Missense_G532R

Associated conditions / phenotypes

Disorders of Intracellular Cobalamin Metabolism|Methylcobalamin deficiency type cblG

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.