N59S (p.Asn59Ser) variant of PCDH15 (Protocadherin-15)
N59S (p.Asn59Ser) in PCDH15 (Protocadherin-15) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Inborn genetic diseases. The record also includes published literature.
N59S (p.Asn59Ser) variant details
- p.Asn59Ser
- rs1948831467
- ClinGen CA376540709
- ClinVar RCV001921131
- ClinVar RCV005692411
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)