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Variant (rsID / SNP)

rs141861479

MTR

rs141861479 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MTR. Location: chromosome 1, position 236,995,270. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

MTRConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
1:236995270
Cytoband
1q43
HGVS
NM_000254.3(MTR):c.1080A>G (p.Leu360=)
Allele change
Silent

Associated conditions / phenotypes

Disorders of Intracellular Cobalamin Metabolism|Methylcobalamin deficiency type cblG

Public references

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