Variant (rsID / SNP)

rs140348243

rs140348243 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN4B. Location: chromosome 11, position 118,007,812. Clinical significance in the table: Uncertain significance.

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Reference-table entries

SCN4BUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 11:118007812
Cytoband: 11q23.3
HGVS: NM_174934.4(SCN4B):c.617C>T (p.Ser206Leu)
Allele change: Silent

Associated conditions / phenotypes

SUDDEN INFANT DEATH SYNDROME|Long QT syndrome 10

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.