Variant (rsID / SNP)
rs78677072
rs78677072 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ASPA. Location: chromosome 17, position 3,402,271. Clinical significance in the table: Benign.
Reference-table entries
ASPABenign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:3402271
- Cytoband
- 17p13.2
- HGVS
- NM_000049.4(ASPA):c.831C>T (p.Thr277_Val278=)
- Allele change
- Silent
Associated conditions / phenotypes
Spongy degeneration of central nervous system
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.