Variant (rsID / SNP)

rs201168715

rs201168715 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BCKDHA. Location: chromosome 19, position 41,930,367. Clinical significance in the table: Uncertain significance.

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Reference-table entries

BCKDHAUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 19:41930367
Cytoband: 19q13.2
HGVS: NM_000709.4(BCKDHA):c.1192G>A (p.Glu398Lys)
Allele change: Missense_E397K

Associated conditions / phenotypes

Maple syrup urine disease|Maple syrup urine disease type 1A

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.