Variant (rsID / SNP)

rs193922728

rs193922728 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN1B. Location: chromosome 19, position 35,524,946. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

SCN1BConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 19:35524946
Cytoband: 19q13.11
HGVS: NM_199037.3(SCN1B):c.751G>A (p.Val251Ile)
Allele change: Missense_V251I

Associated conditions / phenotypes

Brugada syndrome 5|Cardiac arrhythmia

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.