Variant (rsID / SNP)

rs121434295

rs121434295 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MTHFR. Location: chromosome 1, position 11,861,223. Clinical significance in the table: Pathogenic.

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Reference-table entries

MTHFRPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:11861223
Cytoband: 1p36.22
HGVS: NM_005957.5(MTHFR):c.470G>A (p.Arg157Gln)
Allele change: Missense_R157Q

Associated conditions / phenotypes

Homocystinuria due to MTHFR deficiency|Homocystinuria due to methylene tetrahydrofolate reductase deficiency

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.