Variant (rsID / SNP)
rs1048743
rs1048743 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to VPS13A. Location: chromosome 9, position 80,031,864. Clinical significance in the table: Benign.
Reference-table entries
VPS13ABenign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 9:80031864
- Cytoband
- 9q21.2
- HGVS
- NM_033305.3(VPS13A):c.*942C>T
- Allele change
- Silent
Associated conditions / phenotypes
Chorea-acanthocytosis
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.