Variant (rsID / SNP)

rs768323248

rs768323248 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ALDH18A1. Location: chromosome 10, position 97,397,114. Clinical significance in the table: Uncertain significance.

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Reference-table entries

ALDH18A1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 10:97397114
Cytoband: 10q24.1
HGVS: NM_002860.4(ALDH18A1):c.383G>A (p.Arg128His)
Allele change: Missense_R17H

Associated conditions / phenotypes

Autosomal recessive complex spastic paraplegia type 9B

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.