Variant (rsID / SNP)
rs886043118
rs886043118 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to STAT1. Location: chromosome 2, position 191,874,642. Clinical significance in the table: Pathogenic.
Reference-table entries
STAT1Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- Deletion
- Chromosome / position
- 2:191874642
- Cytoband
- 2q32.2
- HGVS
- NM_007315.4(STAT1):c.88del (p.Ile30fs)
Associated conditions / phenotypes
Immunodeficiency 31B
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.