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Variant (rsID / SNP)

rs386834233

BCKDHB

rs386834233 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BCKDHB. Location: chromosome 6, position 80,910,740. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

BCKDHBPathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
6:80910740
Cytoband
6q14.1
HGVS
NM_183050.4(BCKDHB):c.832G>A (p.Gly278Ser)
Allele change
Missense_G208S

Associated conditions / phenotypes

Maple syrup urine disease|Maple syrup urine disease type 1B

Public references

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