Variant (rsID / SNP)

rs1950902

rs1950902 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MTHFD1. Location: chromosome 14, position 64,882,380. Clinical significance in the table: Benign.

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Reference-table entries

MTHFD1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 14:64882380
Cytoband: 14q23.3
HGVS: NM_005956.4(MTHFD1):c.401A>G (p.Lys134Arg)
Allele change: Missense_K134R

Associated conditions / phenotypes

Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia

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.