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Variant (rsID / SNP)

rs199472983

KCNH2

rs199472983 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNH2. Location: chromosome 7, position 150,648,076. 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
7:150648076
Cytoband
7q36.1
HGVS
NM_000238.4(KCNH2):c.2078T>C (p.Leu693Pro)
Allele change
Missense_L353P

Associated conditions / phenotypes

Congenital long QT syndrome|Long QT syndrome|Inborn genetic diseases

Public references

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