Variant (rsID / SNP)
rs2066807
rs2066807 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to STAT2. Location: chromosome 12, position 56,740,682. Clinical significance in the table: Benign.
Reference-table entries
STAT2Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 12:56740682
- Cytoband
- 12q13.3
- HGVS
- NM_005419.4(STAT2):c.1782G>C (p.Met594Ile)
- Allele change
- Missense_M590I
Associated conditions / phenotypes
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.