Variant (rsID / SNP)
rs1802059
rs1802059 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MTRR. Location: chromosome 5, position 7,897,319. Clinical significance in the table: Benign.
Reference-table entries
MTRRBenign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 5:7897319
- Cytoband
- 5p15.31
- HGVS
- NM_002454.3(MTRR):c.1911G>A (p.Ala637=)
- Allele change
- Synonymous_A637A
Associated conditions / phenotypes
Disorders of Intracellular Cobalamin Metabolism|Methylcobalamin deficiency type cblE
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.