Variant (rsID / SNP)

rs121965004

rs121965004 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BCKDHB. Location: chromosome 6, position 80,878,730. Clinical significance in the table: Pathogenic.

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Reference-table entries

BCKDHBPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 6:80878730
Cytoband: 6q14.1
HGVS: NM_183050.4(BCKDHB):c.616C>T (p.His206Tyr)
Allele change: Missense_H136Y

Associated conditions / phenotypes

MAPLE SYRUP URINE DISEASE, CLASSIC, TYPE IB

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.