Variant (rsID / SNP)

rs2228014

rs2228014 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CXCR4. Location: chromosome 2, position 136,873,084. Clinical significance in the table: Benign.

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Reference-table entries

CXCR4Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 2:136873084
Cytoband: 2q22.1
HGVS: NM_003467.3(CXCR4):c.414C>T (p.Ile138=)
Allele change: Synonymous_I123I

Associated conditions / phenotypes

Warts, hypogammaglobulinemia, infections, and myelokathexis

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.