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Variant (rsID / SNP)

rs2231447

CD3E

rs2231447 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CD3E. Location: chromosome 11, position 118,184,576. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

CD3EBenign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
11:118184576
Cytoband
11q23.3
HGVS
NM_000733.4(CD3E):c.507C>T (p.Gly169=)
Allele change
Synonymous_G169G

Associated conditions / phenotypes

Severe combined immunodeficiency disease|Immunodeficiency 18

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.