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Variant (rsID / SNP)

rs137852871

BCKDHA

rs137852871 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BCKDHA. Location: chromosome 19, position 41,928,548. 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
19:41928548
Cytoband
19q13.2
HGVS
NM_000709.4(BCKDHA):c.868G>A (p.Gly290Arg)
Allele change
Missense_G289R

Associated conditions / phenotypes

MAPLE SYRUP URINE DISEASE, INTERMEDIATE, TYPE IA|Maple syrup urine disease|Maple syrup urine disease type 1A

Public references

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