Variant (rsID / SNP)
rs17674547
rs17674547 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DST. Location: chromosome 6, position 56,480,146. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
DSTConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 6:56480146
- Cytoband
- 6p12.1
- HGVS
- NM_001374736.1(DST):c.4930-864A>C
- Allele change
- Silent
Associated conditions / phenotypes
Hereditary sensory and autonomic neuropathy type 6
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
