Variant (rsID / SNP)

rs117350233

rs117350233 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ATP2A1. Location: chromosome 16, position 28,905,848. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

ATP2A1Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 16:28905848
Cytoband: 16p11.2
HGVS: NM_004320.6(ATP2A1):c.1207C>T (p.Arg403Trp)
Allele change: Missense_R403W

Associated conditions / phenotypes

Brody myopathy

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.