Variant (rsID / SNP)

rs200805504

rs200805504 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ATP2B3. Clinical significance in the table: Uncertain significance.

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Reference-table entries

ATP2B3Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Cytoband: Xq28
HGVS: NM_001001344.3(ATP2B3):c.3626C>A (p.Pro1209His)
Allele change: Silent

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.