Variant (rsID / SNP)

rs142616130

rs142616130 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ATP13A2. Location: chromosome 1, position 17,323,602. Clinical significance in the table: Uncertain significance.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

ATP13A2Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 1:17323602
Cytoband: 1p36.13
HGVS: NM_022089.4(ATP13A2):c.1108C>T (p.Arg370Trp)
Allele change: Missense_R365W

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.