Variant (rsID / SNP)

rs17181471

rs17181471 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to IFNGR1. Location: chromosome 6, position 137,540,423. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

IFNGR1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 6:137540423
Cytoband: 6q23.3
HGVS: NM_000416.3(IFNGR1):c.42G>A (p.Val14=)
Allele change: Synonymous_V14V

Associated conditions / phenotypes

Interferon gamma receptor deficiency|Immunodeficiency 27A|Disseminated atypical mycobacterial infection

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.