Variant (rsID / SNP)

rs72547561

rs72547561 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ALDH3A2. Location: chromosome 17, position 19,559,736. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

ALDH3A2Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 17:19559736
Cytoband: 17p11.2
HGVS: NM_000382.3(ALDH3A2):c.529C>T (p.Arg177Ter)
Allele change: Nonsense_R177X

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.