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Variant (rsID / SNP)

rs79263074

BRAT1

rs79263074 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BRAT1. Location: chromosome 7, position 2,583,348. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

BRAT1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
7:2583348
Cytoband
7p22.3
HGVS
NM_152743.4(BRAT1):c.679C>T (p.Arg227Cys)
Allele change
Missense_R227C

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.