Variant (rsID / SNP)

rs142774813

rs142774813 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MTR. Location: chromosome 1, position 237,023,193. Clinical significance in the table: Uncertain significance.

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Reference-table entries

MTRUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 1:237023193
Cytoband: 1q43
HGVS: NM_000254.3(MTR):c.2014G>A (p.Glu672Lys)
Allele change: Missense_E265K

Associated conditions / phenotypes

Methylcobalamin deficiency type cblG|Disorders of Intracellular Cobalamin Metabolism

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.