Variant (rsID / SNP)
rs1045487
rs1045487 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CASP8. Location: chromosome 2, position 202,149,696. Clinical significance in the table: Benign.
Reference-table entries
CASP8Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 2:202149696
- Cytoband
- 2q33.1
- HGVS
- NM_001372051.1(CASP8):c.960G>A (p.Lys320=)
- Allele change
- Synonymous_K320K
Associated conditions / phenotypes
Autoimmune lymphoproliferative syndrome type 2B
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.