N245D (p.Asn245Asp) variant of SIX1 (Homeobox protein SIX1)
N245D (p.Asn245Asp) in SIX1 (Homeobox protein SIX1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Branchiootic syndrome 3. The record also includes published literature and structural context.
N245D (p.Asn245Asp) variant details
- p.Asn245Asp
- rs2502639357
- ClinGen CA389909661
- ClinVar RCV003991933
- Likely pathogenic
- Branchiootic syndrome 3
- Missense
- ClinVar: Likely pathogenic (Branchiootic syndrome 3)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Branchiootorenal Spectrum Disorder. (PMID 20301554)