Variant (rsID / SNP)

rs284653

rs284653 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BCKDHA. Location: chromosome 19, position 41,928,701. Clinical significance in the table: Benign/Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

BCKDHABenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 19:41928701
Cytoband: 19q13.2
HGVS: NM_000709.4(BCKDHA):c.995+26C>T
Allele change: Silent

Associated conditions / phenotypes

Maple syrup urine disease

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.