Variant (rsID / SNP)
rs1805087
rs1805087 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MTR. Location: chromosome 1, position 237,048,500. Clinical significance in the table: Benign.
Reference-table entries
MTRBenign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:237048500
- Cytoband
- 1q43
- HGVS
- NM_000254.3(MTR):c.2756A>G (p.Asp919Gly)
- Allele change
- Missense_D512G
Associated conditions / phenotypes
Neural tube defects, folate-sensitive, susceptibility to|Gastrointestinal stromal tumor|Disorders of Intracellular Cobalamin Metabolism|Methylcobalamin deficiency type cblG
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.