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Variant (rsID / SNP)

rs137852870

BCKDHA

rs137852870 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BCKDHA. Location: chromosome 19, position 41,930,487. 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
19:41930487
Cytoband
19q13.2
HGVS
NM_000709.4(BCKDHA):c.1312T>A (p.Tyr438Asn)
Allele change
Missense_Y437N

Associated conditions / phenotypes

Maple syrup urine disease type 1A|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.