Variant (rsID / SNP)

rs794728480

rs794728480 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNH2. Location: chromosome 7, position 150,648,679. Clinical significance in the table: Likely pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

KCNH2Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 7:150648679
Cytoband: 7q36.1
HGVS: NM_000238.4(KCNH2):c.1802G>A (p.Gly601Asp)
Allele change: Missense_G261D

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.