Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs199473434

KCNH2

rs199473434 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNH2. Location: chromosome 7, position 150,645,540. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

KCNH2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
7:150645540
Cytoband
7q36.1
HGVS
NM_000238.4(KCNH2):c.2684C>T (p.Thr895Met)
Allele change
Missense_T555M

Associated conditions / phenotypes

SUDDEN INFANT DEATH SYNDROME|Long QT syndrome|Long QT syndrome 2|Long QT syndrome 1|Cardiac arrhythmia

Public references

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