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Variant (rsID / SNP)

rs182923857

BCKDHA

rs182923857 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BCKDHA. Location: chromosome 19, position 41,928,943. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

BCKDHAConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
19:41928943
Cytoband
19q13.2
HGVS
NM_000709.4(BCKDHA):c.1036C>T (p.Arg346Cys)
Allele change
Missense_R345C

Associated conditions / phenotypes

Maple syrup urine disease

Public references

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