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Variant (rsID / SNP)

rs200924194

ATP13A2

rs200924194 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ATP13A2. Location: chromosome 1, position 17,316,771. Clinical significance in the table: Uncertain significance.

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Reference-table entries

ATP13A2Uncertain significance
Clinical significance (as recorded)
Uncertain significance
Variant type
single nucleotide variant
Chromosome / position
1:17316771
Cytoband
1p36.13
HGVS
NM_022089.4(ATP13A2):c.2263C>G (p.Gln755Glu)
Allele change
Missense_Q750E

Associated conditions / phenotypes

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

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.