Variant (rsID / SNP)

rs7317185

rs7317185 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ATP8A2. Location: chromosome 13, position 26,043,182. Clinical significance in the table: Benign.

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Reference-table entries

ATP8A2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 13:26043182
Cytoband: 13q12.13
HGVS: NM_016529.6(ATP8A2):c.144A>C (p.Gly48=)
Allele change: Synonymous_G48G

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.