Variant (rsID / SNP)

rs56379718

rs56379718 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ATP13A2. Location: chromosome 1, position 17,332,012. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

ATP13A2Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 1:17332012
Cytoband: 1p36.13
HGVS: NM_022089.4(ATP13A2):c.145G>A (p.Gly49Ser)
Allele change: Missense_G49S

Associated conditions / phenotypes

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

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.