Variant (rsID / SNP)

rs150519745

rs150519745 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ATP13A2. Location: chromosome 1, position 17,326,602. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

ATP13A2Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:17326602
Cytoband: 1p36.13
HGVS: NM_022089.4(ATP13A2):c.943G>A (p.Gly315Arg)
Allele change: Missense_G310R

Associated conditions / phenotypes

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.