Variant (rsID / SNP)
rs2275272
rs2275272 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ALDH18A1. Location: chromosome 10, position 97,388,162. Clinical significance in the table: Benign.
Reference-table entries
ALDH18A1Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 10:97388162
- Cytoband
- 10q24.1
- HGVS
- NM_002860.4(ALDH18A1):c.896C>T (p.Thr299Ile)
- Allele change
- Missense_T188I
Associated conditions / phenotypes
ALDH18A1-related de Barsy syndrome|Hereditary spastic paraplegia 9A|Cutis laxa, autosomal dominant 3|de Barsy syndrome|Cutis laxa, autosomal dominant 3|Autosomal recessive complex spastic paraplegia type 9B|Hereditary spastic paraplegia 9A
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.