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Variant (rsID / SNP)

rs149037732

MTRR

rs149037732 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MTRR. Location: chromosome 5, position 7,878,195. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

MTRRConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
5:7878195
Cytoband
5p15.31
HGVS
NM_002454.3(MTRR):c.540G>A (p.Val180=)
Allele change
Synonymous_V180V

Associated conditions / phenotypes

Disorders of Intracellular Cobalamin Metabolism|Methylcobalamin deficiency type cblE

Public references

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