Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs193922565

KCNJ11

rs193922565 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNJ11. Location: chromosome 11, position 17,409,634. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

KCNJ11Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
11:17409634
Cytoband
11p15.1
HGVS
NM_000525.4(KCNJ11):c.5T>C (p.Leu2Pro)
Allele change
Silent

Associated conditions / phenotypes

Neonatal diabetes mellitus|Maturity onset diabetes mellitus in young

Public references

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