Variant (rsID / SNP)
rs17674530
rs17674530 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABAT. Location: chromosome 16, position 8,876,497. Clinical significance in the table: Benign.
Reference-table entries
ABATBenign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 16:8876497
- Cytoband
- 16p13.2
- HGVS
- NM_020686.6(ABAT):c.*1210T>C
- Allele change
- Silent
Associated conditions / phenotypes
Gamma-aminobutyric acid transaminase deficiency
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.