Variant (rsID / SNP)
rs146249007
rs146249007 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DBT. Location: chromosome 1, position 100,681,587. Clinical significance in the table: Benign/Likely benign.
Reference-table entries
DBTBenign
- Clinical significance (as recorded)
- Benign/Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:100681587
- Cytoband
- 1p21.2
- HGVS
- NM_001918.5(DBT):c.724T>C (p.Ser242Pro)
- Allele change
- Missense_S242P
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.