Variant (rsID / SNP)

rs148923187

rs148923187 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BRAT1. Location: chromosome 7, position 2,579,497. Clinical significance in the table: Uncertain significance.

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Reference-table entries

BRAT1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 7:2579497
Cytoband: 7p22.3
HGVS: NM_152743.4(BRAT1):c.1421C>T (p.Thr474Met)
Allele change: Missense_T474M

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.