Variant (rsID / SNP)

rs193922451

rs193922451 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to IFNGR1. Location: chromosome 6, position 137,527,446. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

IFNGR1Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 6:137527446
Cytoband: 6q23.3
HGVS: NM_000416.3(IFNGR1):c.201-1G>T
Allele change: Silent

Associated conditions / phenotypes

Interferon gamma receptor deficiency|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.