Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs148026506

ATP13A2

rs148026506 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ATP13A2. Location: chromosome 1, position 17,322,984. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

ATP13A2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
1:17322984
Cytoband
1p36.13
HGVS
NM_022089.4(ATP13A2):c.1203C>T (p.Cys401=)
Allele change
Synonymous_C396C

Associated conditions / phenotypes

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

Public references

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