Variant (rsID / SNP)

rs371518124

rs371518124 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BCKDHB. Location: chromosome 6, position 80,878,623. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

BCKDHBConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 6:80878623
Cytoband: 6q14.1
HGVS: NM_183050.4(BCKDHB):c.509G>A (p.Arg170His)
Allele change: Missense_R100H

Associated conditions / phenotypes

Maple syrup urine disease

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.