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Variant (rsID / SNP)

rs147205617

SCN3B

rs147205617 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN3B. Location: chromosome 11, position 123,513,271. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

SCN3BConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
11:123513271
Cytoband
11q24.1
HGVS
NM_001040151.2(SCN3B):c.328G>A (p.Val110Ile)
Allele change
Missense_V110I

Associated conditions / phenotypes

Death in infancy|Cardiovascular phenotype|Cardiomyopathy|Brugada syndrome 7

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.