Variant (rsID / SNP)
rs2070606
rs2070606 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to OGDH. Location: chromosome 7, position 44,747,499. Clinical significance in the table: Benign.
Reference-table entries
OGDHBenign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 7:44747499
- Cytoband
- 7p13
- HGVS
- NM_002541.4(OGDH):c.2973G>A (p.Ala991=)
- Allele change
- Synonymous_A987A
Associated conditions / phenotypes
Oxoglutaricaciduria
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.