N376I (p.Asn376Ile) variant of SLC12A2 (P55011)
N376I (p.Asn376Ile) in SLC12A2 (P55011) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Delpire-McNeill syndrome. The record also includes population frequency data, published literature, and structural context.
N376I (p.Asn376Ile) variant details
- p.Asn376Ile
- rs116621105
- ClinGen CA360741126
- ClinVar RCV001264775
- UniProt VAR 085084
- Pathogenic
- Delpire-McNeill syndrome
- Missense
- ClinVar: Pathogenic (Delpire-McNeill syndrome)
- EBI: Pathogenic (in DELMNES)
- UniProt: Pathogenic (in DELMNES)
- Population evidence available
- Structural context available
- Cited in: SLC12A2 variants cause a neurodevelopmental disorder or cochleovestibular defect. (PMID 32658972)