Variant (rsID / SNP)

rs1887415

rs1887415 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to IFNGR1. Location: chromosome 6, position 137,519,238. Clinical significance in the table: Benign.

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Reference-table entries

IFNGR1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 6:137519238
Cytoband: 6q23.3
HGVS: NM_000416.3(IFNGR1):c.1400T>C (p.Leu467Pro)
Allele change: Missense_L467P

Associated conditions / phenotypes

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.