Variant (rsID / SNP)

rs193922645

rs193922645 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to IL7R. Location: chromosome 5, position 35,873,688. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

IL7RLikely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 5:35873688
Cytoband: 5p13.2
HGVS: NM_002185.5(IL7R):c.644G>T (p.Gly215Val)
Allele change: Missense_G215V

Associated conditions / phenotypes

Severe combined immunodeficiency disease

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.