Variant (rsID / SNP)

rs72547575

rs72547575 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ALDH3A2. Location: chromosome 17, position 19,568,310. Clinical significance in the table: Pathogenic/Likely pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

ALDH3A2Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 17:19568310
Cytoband: 17p11.2
HGVS: NM_000382.3(ALDH3A2):c.1157A>G (p.Asn386Ser)
Allele change: Missense_N386S

Associated conditions / phenotypes

SjÃ¶gren-Larsson 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.