Variant (rsID / SNP)

rs74437357

rs74437357 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ATP13A5. Location: chromosome 3, position 193,052,769. Clinical significance in the table: Likely benign.

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Reference-table entries

ATP13A5Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 3:193052769
Cytoband: 3q29
HGVS: NM_198505.4(ATP13A5):c.1063C>T (p.Gln355Ter)
Allele change: Nonsense_Q355X

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.