S5G (p.Ser5Gly) variant of ATP13A2 (Q9NQ11)
S5G (p.Ser5Gly) in ATP13A2 (Q9NQ11) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Kufor-Rakeb syndrome; Autosomal recessive spastic parap. The record also includes published literature and structural context.
S5G (p.Ser5Gly) variant details
- p.Ser5Gly
- rs2101131465
- ClinGen CA338265856
- ClinVar RCV002027418
- ClinVar RCV006327431
- Uncertain significance
- Inborn genetic diseases; Kufor-Rakeb syndrome; Autosomal recessive spastic parap
- Missense
- ClinVar: Uncertain significance (Inborn genetic diseases; Kufor-Rakeb syndrome; Autosomal recessi)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)