N174K (p.Asn174Lys) variant of SIX1 (Homeobox protein SIX1)
N174K (p.Asn174Lys) in SIX1 (Homeobox protein SIX1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Branchiootic syndrome 2; not provided. The record also includes published literature and structural context.
N174K (p.Asn174Lys) variant details
- p.Asn174Lys
- rs1194530244
- ClinGen CA389910131
- ClinVar RCV002298097
- Pathogenic/Likely pathogenic
- Branchiootic syndrome 2; not provided
- Missense
- ClinVar: Pathogenic/Likely pathogenic (Branchiootic syndrome 2; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: Branchiootorenal Spectrum Disorder. (PMID 20301554)