Variant (rsID / SNP)

rs115424814

rs115424814 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MTR. Location: chromosome 1, position 237,001,821. Clinical significance in the table: Benign.

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Reference-table entries

MTRBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 1:237001821
Cytoband: 1q43
HGVS: NM_000254.3(MTR):c.1437C>T (p.Asp479=)
Allele change: Synonymous_D72D

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.