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Variant (rsID / SNP)

rs144557304

ATP13A2

rs144557304 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ATP13A2. Location: chromosome 1, position 17,314,633. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

ATP13A2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
1:17314633
Cytoband
1p36.13
HGVS
NM_022089.4(ATP13A2):c.2859G>A (p.Thr953=)
Allele change
Synonymous_T948T

Associated conditions / phenotypes

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

Public references

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