D89N (p.Asp89Asn) variant of DDX41 (Q9UJV9)
D89N (p.Asp89Asn) in DDX41 (Q9UJV9) 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 and structural context.
D89N (p.Asp89Asn) variant details
- p.Asp89Asn
- rs2532089979
- ClinGen CA362377129
- ClinVar RCV003679702
- ClinVar RCV005554996
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases)
- 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)