Variant (rsID / SNP)

rs34267966

rs34267966 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DBT. Location: chromosome 1, position 100,684,231. Clinical significance in the table: Benign.

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Reference-table entries

DBTBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 1:100684231
Cytoband: 1p21.2
HGVS: NM_001918.5(DBT):c.506G>A (p.Arg169Gln)
Allele change: Missense_R169Q

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.