Variant (rsID / SNP)

rs56290406

rs56290406 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ATP13A2. Location: chromosome 1, position 17,326,540. Clinical significance in the table: Benign.

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Reference-table entries

ATP13A2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 1:17326540
Cytoband: 1p36.13
HGVS: NM_022089.4(ATP13A2):c.1005C>T (p.Ala335=)
Allele change: Synonymous_A330A

Associated conditions / phenotypes

Kufor-Rakeb syndrome|Kufor-Rakeb syndrome|Autosomal recessive spastic paraplegia type 78|History of neurodevelopmental disorder

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.