Variant (rsID / SNP)

rs104893894

rs104893894 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to IL7R. Location: chromosome 5, position 35,871,172. Clinical significance in the table: Pathogenic.

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Reference-table entries

IL7RPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 5:35871172
Cytoband: 5p13.2
HGVS: NM_002185.5(IL7R):c.394C>T (p.Pro132Ser)
Allele change: Missense_P132S

Associated conditions / phenotypes

Immunodeficiency 104

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.