Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs150401343

KCND3

rs150401343 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCND3. Location: chromosome 1, position 112,323,335. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

KCND3Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
1:112323335
Cytoband
1p13.2
HGVS
NM_001378969.1(KCND3):c.1348C>T (p.Leu450Phe)
Allele change
Missense_L450F

Associated conditions / phenotypes

Brugada syndrome 9|Spinocerebellar ataxia type 19/22|Cardiovascular phenotype

Public references

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