Variant (rsID / SNP)

rs28929478

rs28929478 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ATP2A2. Location: chromosome 12, position 110,719,662. Clinical significance in the table: Pathogenic.

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Reference-table entries

ATP2A2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 12:110719662
Cytoband: 12q24.11
HGVS: NM_170665.4(ATP2A2):c.68G>A (p.Gly23Glu)
Allele change: Missense_G23E

Associated conditions / phenotypes

Keratosis follicularis

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.