Variant (rsID / SNP)
rs398123676
rs398123676 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DBT. Location: chromosome 1, position 100,680,373. 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
- 1:100680373
- Cytoband
- 1p21.2
- HGVS
- NM_001918.5(DBT):c.939G>C (p.Lys313Asn)
- Allele change
- Missense_K313N
Associated conditions / phenotypes
Maple syrup urine disease|Maple syrup urine disease type 2
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.