Variant (rsID / SNP)
rs796051938
rs796051938 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BCKDHA. Location: chromosome 19, position 41,928,083. Clinical significance in the table: Pathogenic.
Reference-table entries
BCKDHAPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- Deletion
- Chromosome / position
- 19:41928083
- Cytoband
- 19q13.2
- HGVS
- NM_000709.4(BCKDHA):c.661_664del (p.Tyr221fs)
Associated conditions / phenotypes
Maple syrup urine disease
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.