Variant (rsID / SNP)

rs79761867

rs79761867 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BCKDHB. Location: chromosome 6, position 80,878,662. 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: 6:80878662
Cytoband: 6q14.1
HGVS: NM_183050.4(BCKDHB):c.548G>C (p.Arg183Pro)
Allele change: Missense_R113P

Associated conditions / phenotypes

MAPLE SYRUP URINE DISEASE, CLASSIC, TYPE IB|Maple syrup urine disease|Maple syrup urine disease type 1B

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.