L49H (p.Leu49His) variant of GABRA1 (P14867)
L49H (p.Leu49His) in GABRA1 (P14867) is a missense change. Clinical records from ClinVar and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases. The record also includes published literature and structural context.
L49H (p.Leu49His) variant details
- p.Leu49His
- rs2532205020
- ClinGen CA362181601
- ClinVar RCV002855001
- Conflicting interpretations
- Inborn genetic diseases
- Missense
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases)
- UniProt: Conflicting interpretations
- 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)