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Variant (rsID / SNP)

rs3765571

ALDH18A1

rs3765571 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ALDH18A1. Location: chromosome 10, position 97,386,497. Clinical significance in the table: Benign.

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Reference-table entries

ALDH18A1Benign
Clinical significance (as recorded)
Benign
Variant type
single nucleotide variant
Chromosome / position
10:97386497
Cytoband
10q24.1
HGVS
NM_002860.4(ALDH18A1):c.1115C>A (p.Ser372Tyr)
Allele change
Missense_S261Y

Associated conditions / phenotypes

Cutis laxa, autosomal dominant 3|Hereditary spastic paraplegia 9A|de Barsy syndrome|ALDH18A1-related de Barsy syndrome|Hereditary spastic paraplegia

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.