Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs144816455

ALDH18A1

rs144816455 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ALDH18A1. Location: chromosome 10, position 97,380,947. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

ALDH18A1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
10:97380947
Cytoband
10q24.1
HGVS
NM_002860.4(ALDH18A1):c.1308G>A (p.Leu436=)
Allele change
Synonymous_L325L

Associated conditions / phenotypes

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

Public references

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