Variant (rsID / SNP)

rs117836686

rs117836686 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NOD2. Location: chromosome 16, position 50,744,568. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

NOD2Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 16:50744568
Cytoband: 16q12.1
HGVS: NM_001370466.1(NOD2):c.665A>G (p.Glu222Gly)
Allele change: Missense_E249G

Associated conditions / phenotypes

Inflammatory bowel disease 1|Blau 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.