Variant (rsID / SNP)

rs863225262

rs863225262 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BCKDHA. Location: chromosome 19, position 41,930,373. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

BCKDHAPathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 19:41930373
Cytoband: 19q13.2
HGVS: NM_000709.4(BCKDHA):c.1198A>T (p.Lys400Ter)
Allele change: Nonsense_K399X

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.