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Variant (rsID / SNP)

rs2236225

MTHFD1

rs2236225 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MTHFD1. Location: chromosome 14, position 64,908,845. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

MTHFD1Benign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
14:64908845
Cytoband
14q23.3
HGVS
NM_005956.4(MTHFD1):c.1958G>A (p.Arg653Gln)
Allele change
Missense_R653Q

Associated conditions / phenotypes

Neural tube defects, folate-sensitive, susceptibility to|Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia

Public references

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