Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs143326262

CACNB2

rs143326262 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CACNB2. Location: chromosome 10, position 18,828,181. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

CACNB2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
10:18828181
Cytoband
10p12.31
HGVS
NM_201596.3(CACNB2):c.1511C>T (p.Thr504Ile)
Allele change
Missense_T504I

Associated conditions / phenotypes

Brugada syndrome|Brugada syndrome 4|Cardiovascular phenotype|Ventricular tachycardia

Public references

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