Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs180943300

SCN1B

rs180943300 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN1B. Location: chromosome 19, position 35,523,525. Clinical significance in the table: Uncertain significance.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

SCN1BUncertain significance
Clinical significance (as recorded)
Uncertain significance
Variant type
single nucleotide variant
Chromosome / position
19:35523525
Cytoband
19q13.11
HGVS
NM_001037.5(SCN1B):c.134G>A (p.Arg45His)
Allele change
Missense_R45H

Associated conditions / phenotypes

Brugada syndrome 5|Brugada syndrome 5|Generalized epilepsy with febrile seizures plus, type 1|Atrial fibrillation, familial, 13|Developmental and epileptic encephalopathy, 52

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.