STXBP2: c.1663A>G p.Arg555Gly
Disclaimer The information on this database is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. The authors are not responsible for neither its use nor misuse. The authors have worked with care in the development of this server, but assume no liability or responsibility for any error, weakness, incompleteness or temporariness of the resource and of the data provided.
Interpreting the variant
Learn more about the variant
| Clinical Evidence | ClinVar | Benign (criteria provided, multiple submitters, no conflicts) |
| UniProt | - | |
| Biological Relevance | Functional residue | - |
| Variant Information | dbSNP | rs61736586 |
| Ensembl | variant | |
| Population Allele Frequency | ExAC | 0.004331 |
| gnomAD | 0.003555 |