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Variant (rsID / SNP)

rs143319002

KCNJ8

rs143319002 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNJ8. Location: chromosome 12, position 21,919,461. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

KCNJ8Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
12:21919461
Cytoband
12p12.1
HGVS
NM_004982.4(KCNJ8):c.471G>C (p.Thr157=)
Allele change
Synonymous_T157T

Associated conditions / phenotypes

Cardiovascular phenotype|Brugada syndrome

Public references

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