Variant (rsID / SNP)
rs121434586
rs121434586 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to IMPDH2. Location: chromosome 3, position 49,064,152. Clinical significance in the table: Affects.
Reference-table entries
IMPDH2Other
- Clinical significance (as recorded)
- Affects
- Variant type
- single nucleotide variant
- Chromosome / position
- 3:49064152
- Cytoband
- 3p21.31
- HGVS
- NM_000884.3(IMPDH2):c.787C>T (p.Leu263Phe)
- Allele change
- Missense_L263F
Associated conditions / phenotypes
Impdh2 enzyme activity, variation in
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.