Variant (rsID / SNP)

rs571140165

rs571140165 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ALDH18A1. Location: chromosome 10, position 97,416,344. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

ALDH18A1Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 10:97416344
Cytoband: 10q24.1
HGVS: NM_002860.4(ALDH18A1):c.-29+10G>A
Allele change: Silent

Associated conditions / phenotypes

ALDH18A1-related de Barsy syndrome

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.