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Variant (rsID / SNP)

rs138796800

DBT

rs138796800 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DBT. Location: chromosome 1, position 100,696,395. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

DBTConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
1:100696395
Cytoband
1p21.2
HGVS
NM_001918.5(DBT):c.327C>T (p.Thr109=)
Allele change
Synonymous_T109T

Associated conditions / phenotypes

Maple syrup urine disease

Public references

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