Variant (rsID / SNP)

rs56727079

rs56727079 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BRAT1. Location: chromosome 7, position 2,578,371. Clinical significance in the table: Benign.

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Reference-table entries

BRAT1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 7:2578371
Cytoband: 7p22.3
HGVS: NM_152743.4(BRAT1):c.1798C>T (p.Leu600Phe)
Allele change: Missense_L600F

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.