Variant (rsID / SNP)
rs41288981
rs41288981 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to IFNGR1. Location: chromosome 6, position 137,525,526. Clinical significance in the table: Benign/Likely benign.
Reference-table entries
IFNGR1Benign
- Clinical significance (as recorded)
- Benign/Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 6:137525526
- Cytoband
- 6q23.3
- HGVS
- NM_000416.3(IFNGR1):c.489C>T (p.Pro163=)
- Allele change
- Synonymous_P163P
Associated conditions / phenotypes
Interferon gamma receptor deficiency|Immunodeficiency 27A|Disseminated atypical mycobacterial infection
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
