Variant (rsID / SNP)
rs149309642
rs149309642 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ALDH18A1. Location: chromosome 10, position 97,366,703. Clinical significance in the table: Benign/Likely benign.
Reference-table entries
ALDH18A1Benign
- Clinical significance (as recorded)
- Benign/Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 10:97366703
- Cytoband
- 10q24.1
- HGVS
- NM_002860.4(ALDH18A1):c.2207-3C>T
- Allele change
- Silent
Associated conditions / phenotypes
ALDH18A1-related de Barsy syndrome|de Barsy syndrome|Hereditary spastic paraplegia 9A|Cutis laxa, autosomal dominant 3|Hereditary spastic paraplegia
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
