Variant (rsID / SNP)

rs375785084

rs375785084 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BCKDHA. Location: chromosome 19, position 41,928,081. 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: 19:41928081
Cytoband: 19q13.2
HGVS: NM_000709.4(BCKDHA):c.659C>T (p.Ala220Val)
Allele change: Missense_A220V

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.