Variant (rsID / SNP)

rs587777555

rs587777555 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN3B. Location: chromosome 11, position 123,516,353. Clinical significance in the table: Uncertain significance.

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Reference-table entries

SCN3BUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 11:123516353
Cytoband: 11q24.1
HGVS: NM_001040151.2(SCN3B):c.161T>G (p.Val54Gly)
Allele change: Missense_V54G

Associated conditions / phenotypes

Brugada syndrome 7

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.