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Variant (rsID / SNP)

rs543016186

MTHFR

rs543016186 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MTHFR. Location: chromosome 1, position 11,855,182. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

MTHFRConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
1:11855182
Cytoband
1p36.22
HGVS
NM_005957.5(MTHFR):c.1004G>A (p.Arg335His)
Allele change
Missense_R335H

Associated conditions / phenotypes

Homocystinuria due to methylene tetrahydrofolate reductase deficiency

Public references

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