K1115N (p.Lys1115Asn) variant of ARID1B (Q8NFD5)
K1115N (p.Lys1115Asn) in ARID1B (Q8NFD5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Coffin-Siris syndrome 1. The record also includes published literature.
K1115N (p.Lys1115Asn) variant details
- p.Lys1115Asn
- rs1583451360
- ClinGen CA366224666
- ClinVar RCV001527606
- Ensembl rs1583451360
- Pathogenic
- Coffin-Siris syndrome 1
- Missense
- ClinVar: Pathogenic (Coffin-Siris syndrome 1)
- EBI: Pathogenic
- UniProt: Pathogenic
- Cited in: Coffin-Siris Syndrome. (PMID 23556151)
- Cited in: ARID1B-Related Disorder. (PMID 31132234)