Variant (rsID / SNP)

rs2231449

rs2231449 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CD3E. Location: chromosome 11, position 118,186,305. Clinical significance in the table: Benign.

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Reference-table entries

CD3EBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 11:118186305
Cytoband: 11q23.3
HGVS: NM_000733.4(CD3E):c.*48C>A
Allele change: Silent

Associated conditions / phenotypes

Immunodeficiency 18

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.