Variant (rsID / SNP)

rs199472958

rs199472958 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNH2. Location: chromosome 7, position 150,648,593. The table records no clinical significance for this variant.

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Reference-table entries

KCNH2Not classified

Variant type: single nucleotide variant
Chromosome / position: 7:150648593
Cytoband: 7q36.1
HGVS: NM_000238.4(KCNH2):c.1888G>C (p.Val630Leu)
Allele change: Missense_V290I

Associated conditions / phenotypes

Congenital long QT syndrome

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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