Variant (rsID / SNP)

rs2287780

rs2287780 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MTRR. Location: chromosome 5, position 7,889,304. Clinical significance in the table: Benign.

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Reference-table entries

MTRRBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 5:7889304
Cytoband: 5p15.31
HGVS: NM_002454.3(MTRR):c.1243C>T (p.Arg415Cys)
Allele change: Missense_R415C

Associated conditions / phenotypes

Disorders of Intracellular Cobalamin Metabolism|Methylcobalamin deficiency type cblE

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.