Variant (rsID / SNP)

rs72558029

rs72558029 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN1B. Location: chromosome 19, position 35,524,607. Clinical significance in the table: Benign/Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

SCN1BBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 19:35524607
Cytoband: 19q13.11
HGVS: NM_001037.5(SCN1B):c.412G>A (p.Val138Ile)
Allele change: Missense_V138I

Associated conditions / phenotypes

Long QT syndrome|Cardiovascular phenotype|Generalized epilepsy with febrile seizures plus, type 1|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.