Variant (rsID / SNP)
rs77213198
rs77213198 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BRAT1. Location: chromosome 7, position 2,582,907. Clinical significance in the table: Benign.
Reference-table entries
BRAT1Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 7:2582907
- Cytoband
- 7p22.3
- HGVS
- NM_152743.4(BRAT1):c.854G>A (p.Arg285Gln)
- Allele change
- Missense_R285Q
Associated conditions / phenotypes
Neonatal-onset encephalopathy with rigidity and seizures
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.