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Variant (rsID / SNP)

rs786205812

KCNJ2

rs786205812 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNJ2. Location: chromosome 17, position 68,171,406. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

KCNJ2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
17:68171406
Cytoband
17q24.3
HGVS
NM_000891.3(KCNJ2):c.226T>G (p.Cys76Gly)
Allele change
Missense_C76G

Associated conditions / phenotypes

Short QT syndrome type 3|Andersen Tawil syndrome

Public references

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