Variant (rsID / SNP)

rs199472893

rs199472893 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNH2. Location: chromosome 7, position 150,649,832. 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: 7:150649832
Cytoband: 7q36.1
HGVS: NM_000238.4(KCNH2):c.1238T>C (p.Leu413Pro)
Allele change: Missense_L73R

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.