Variant (rsID / SNP)

rs72547571

rs72547571 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ALDH3A2. Location: chromosome 17, position 19,566,648. Clinical significance in the table: Pathogenic.

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Reference-table entries

ALDH3A2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 17:19566648
Cytoband: 17p11.2
HGVS: NM_000382.3(ALDH3A2):c.943C>T (p.Pro315Ser)
Allele change: Missense_P315S

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.