K49N (p.Lys49Asn) variant of ADNP (Q9H2P0)
K49N (p.Lys49Asn) in ADNP (Q9H2P0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; not provided; Inborn genetic diseases. The record also includes published literature and structural context.
K49N (p.Lys49Asn) variant details
- p.Lys49Asn
- rs1271741809
- ClinGen CA408981557
- ClinVar RCV002397098
- ClinVar RCV005097541
- Uncertain significance
- not specified; not provided; Inborn genetic diseases
- Missense
- ClinVar: Uncertain significance (not specified; 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)