Variant (rsID / SNP)

rs138189536

rs138189536 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MTHFR. Location: chromosome 1, position 11,863,038. Clinical significance in the table: Likely benign.

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Reference-table entries

MTHFRLikely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 1:11863038
Cytoband: 1p36.22
HGVS: NM_005957.5(MTHFR):c.136C>T (p.Arg46Trp)
Allele change: Missense_R46W

Associated conditions / phenotypes

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.