Variant (rsID / SNP)

rs386834234

rs386834234 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BCKDHB. Location: chromosome 6, position 81,053,456. Clinical significance in the table: Pathogenic/Likely pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

BCKDHBPathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 6:81053456
Cytoband: 6q14.1
HGVS: NM_183050.4(BCKDHB):c.1114G>T (p.Glu372Ter)
Allele change: Nonsense_E302X

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.