Variant (rsID / SNP)
rs2303436
rs2303436 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DLAT. Location: chromosome 11, position 111,896,324. Clinical significance in the table: Benign.
Reference-table entries
DLATBenign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 11:111896324
- Cytoband
- 11q23.1
- HGVS
- NM_001931.5(DLAT):c.128C>T (p.Ala43Val)
- Allele change
- Missense_A43V
Associated conditions / phenotypes
Pyruvate dehydrogenase E2 deficiency
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.