Variant (rsID / SNP)

rs150721582

rs150721582 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN1B, HPN. Location: chromosome 19, position 35,530,580. 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: 19:35530580
Cytoband: 19q13.11
HGVS: NM_001037.5(SCN1B):c.632G>A (p.Cys211Tyr)
Allele change: Missense_C211Y

Associated conditions / phenotypes

Cardiovascular phenotype|Seizure|Brugada syndrome 5

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.