Variant (rsID / SNP)
rs121913502
rs121913502 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to IDH2. Location: chromosome 15, position 90,631,934. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
IDH2Pathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 15:90631934
- Cytoband
- 15q26.1
- HGVS
- NM_002168.4(IDH2):c.419G>A (p.Arg140Gln)
- Allele change
- Missense_R140Q
Associated conditions / phenotypes
D-2-hydroxyglutaric aciduria 2|Acute myeloid leukemia|Neoplasm of the large intestine|Squamous cell carcinoma of the head and neck|Myelodysplastic syndrome|Multiple myeloma
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.