Variant (rsID / SNP)

rs143072395

rs143072395 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNH2. Location: chromosome 7, position 150,647,454. Clinical significance in the table: Uncertain significance.

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Reference-table entries

KCNH2Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 7:150647454
Cytoband: 7q36.1
HGVS: NM_000238.4(KCNH2):c.2200C>T (p.Arg734Cys)
Allele change: Missense_R394C

Associated conditions / phenotypes

Long QT syndrome|Cardiac arrhythmia

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.