Variant (rsID / SNP)

rs41291566

rs41291566 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ALDH18A1. Location: chromosome 10, position 97,387,248. 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: 10:97387248
Cytoband: 10q24.1
HGVS: NM_002860.4(ALDH18A1):c.1029T>C (p.Ile343=)
Allele change: Synonymous_I232I

Associated conditions / phenotypes

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

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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