Variant (rsID / SNP)

rs200137991

rs200137991 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MTHFR. Location: chromosome 1, position 11,854,500. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

MTHFRLikely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:11854500
Cytoband: 1p36.22
HGVS: NM_005957.5(MTHFR):c.1262G>C (p.Trp421Ser)
Allele change: Missense_W421L

Associated conditions / phenotypes

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