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Variant (rsID / SNP)

rs121434296

MTHFR

rs121434296 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MTHFR. Location: chromosome 1, position 11,854,823. 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
1:11854823
Cytoband
1p36.22
HGVS
NM_005957.5(MTHFR):c.1129C>T (p.Arg377Cys)
Allele change
Missense_R377C

Associated conditions / phenotypes

Homocystinuria due to MTHFR deficiency|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.