Variant (rsID / SNP)

rs730880324

rs730880324 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BRAT1. Location: chromosome 7, position 2,583,388. Clinical significance in the table: Pathogenic/Likely pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

BRAT1Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: Duplication
Chromosome / position: 7:2583388
Cytoband: 7p22.3
HGVS: NM_152743.4(BRAT1):c.638dup (p.Val214fs)

Associated conditions / phenotypes

Neonatal-onset encephalopathy with rigidity and seizures|Inborn genetic diseases|Neurodevelopmental disorder with cerebellar atrophy and with or without seizures

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.