Variant (rsID / SNP)
rs121964999
rs121964999 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DBT. Location: chromosome 1, position 100,680,485. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
DBTPathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:100680485
- Cytoband
- 1p21.2
- HGVS
- NM_001918.5(DBT):c.827T>G (p.Phe276Cys)
- Allele change
- Missense_F276C
Associated conditions / phenotypes
Maple syrup urine disease, thiamine-responsive, type II|Maple syrup urine disease|See cases
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.