Variant (rsID / SNP)

rs104895461

rs104895461 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NOD2. Location: chromosome 16, position 50,744,823. Clinical significance in the table: Pathogenic.

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Reference-table entries

NOD2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 16:50744823
Cytoband: 16q12.1
HGVS: NM_001370466.1(NOD2):c.920G>A (p.Arg307Gln)
Allele change: Missense_R334Q

Associated conditions / phenotypes

Blau syndrome|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.