Variant (rsID / SNP)

rs9014

rs9014 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ATP6AP2. Clinical significance in the table: Benign.

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Reference-table entries

ATP6AP2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Cytoband: Xp11.4
HGVS: NM_005765.3(ATP6AP2):c.268C>G (p.Pro90Ala)
Allele change: Missense_P90A

Associated conditions / phenotypes

Syndromic X-linked intellectual disability Hedera type|History of neurodevelopmental disorder

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.