Variant (rsID / SNP)
rs104895427
rs104895427 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NOD2. Location: chromosome 16, position 50,744,753. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
NOD2Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 16:50744753
- Cytoband
- 16q12.1
- HGVS
- NM_001370466.1(NOD2):c.850C>T (p.Arg284Trp)
- Allele change
- Missense_R311W
Associated conditions / phenotypes
Blau syndrome|Inflammatory bowel disease 1|Blau syndrome|Susceptibility to Yao syndrome|Inflammatory bowel disease 1|Blau syndrome|Inflammatory bowel disease 1
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.