Variant (rsID / SNP)

rs5743272

rs5743272 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NOD2. Location: chromosome 16, position 50,744,877. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

NOD2Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 16:50744877
Cytoband: 16q12.1
HGVS: NM_001370466.1(NOD2):c.974A>G (p.His325Arg)
Allele change: Missense_H352R

Associated conditions / phenotypes

Blau syndrome|Inflammatory bowel disease 1|Autoinflammatory 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.