Variant (rsID / SNP)
rs1801131
rs1801131 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MTHFR. Location: chromosome 1, position 11,854,476. Clinical significance in the table: Conflicting interpretations of pathogenicity; other.
Reference-table entries
MTHFRConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity; other
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:11854476
- Cytoband
- 1p36.22
- HGVS
- NM_005957.5(MTHFR):c.1286A>C (p.Glu429Ala)
- Allele change
- Missense_E429A
Associated conditions / phenotypes
MTHFR THERMOLABILE POLYMORPHISM|Schizophrenia, susceptibility to|Gastrointestinal stromal tumor|Neural tube defects, folate-sensitive|Homocystinuria due to methylene tetrahydrofolate reductase deficiency|Homocystinuria due to MTHFR deficiency|Stroke
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.