Variant (rsID / SNP)

rs72554632

rs72554632 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MAOA. Clinical significance in the table: Pathogenic.

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Reference-table entries

MAOAPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Cytoband: Xp11.3
HGVS: NM_000240.4(MAOA):c.886C>T (p.Gln296Ter)
Allele change: Nonsense_Q163X

Associated conditions / phenotypes

Brunner 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.