Variant (rsID / SNP)
rs200900510
rs200900510 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TNFRSF1A. Location: chromosome 12, position 6,439,066. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
TNFRSF1AConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 12:6439066
- Cytoband
- 12p13.31
- HGVS
- NM_001065.4(TNFRSF1A):c.935G>A (p.Arg312Lys)
- Allele change
- Silent
Associated conditions / phenotypes
Behcet disease|TNF receptor-associated periodic fever syndrome (TRAPS)|Autoinflammatory syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
