Variant (rsID / SNP)

rs16969930

rs16969930 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN1B, HPN. Location: chromosome 19, position 35,530,073. Clinical significance in the table: Benign.

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Reference-table entries

SCN1BBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 19:35530073
Cytoband: 19q13.11
HGVS: NM_001037.5(SCN1B):c.501T>C (p.Ile167_Val168=)
Allele change: Synonymous_I167I

Associated conditions / phenotypes

Cardiovascular phenotype|Generalized epilepsy with febrile seizures plus, type 1|Brugada syndrome 5|Seizure

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.