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Variant (rsID / SNP)

rs72549418

KCNH2

rs72549418 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNH2. Location: chromosome 7, position 150,646,082. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

KCNH2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
7:150646082
Cytoband
7q36.1
HGVS
NM_000238.4(KCNH2):c.2454G>A (p.Ser818_Asn819=)
Allele change
Synonymous_S478S

Associated conditions / phenotypes

Cardiovascular phenotype|Long QT syndrome|Long QT syndrome 2|Cardiac arrhythmia

Public references

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