Variant (rsID / SNP)
rs17615
rs17615 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CR2. Location: chromosome 1, position 207,646,462. Clinical significance in the table: Benign.
Reference-table entries
CR2Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:207646462
- Cytoband
- 1q32.2
- HGVS
- NM_001006658.3(CR2):c.1916G>A (p.Ser639Asn)
- Allele change
- Missense_S639N
Associated conditions / phenotypes
Immunodeficiency, common variable, 7
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.