Variant (rsID / SNP)

rs150942467

rs150942467 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BRAT1. Location: chromosome 7, position 2,581,807. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

BRAT1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 7:2581807
Cytoband: 7p22.3
HGVS: NM_152743.4(BRAT1):c.962T>G (p.Leu321Arg)
Allele change: Missense_L321R

Associated conditions / phenotypes

Neonatal-onset encephalopathy with rigidity and 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.