Gene entry
CARD11
caspase recruitment domain family member 11
- Chromosome
- 7
- Cytoband
- 7p22.2
- Variants (rsID)
- 43
CARD11 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 7 (region 7p22.2). Its official name is “caspase recruitment domain family member 11”. The reference table lists 43 variants (rsID) for this gene.
Clinically classified variants
4 reference-table entries with clinical significance.
- rs1621509Benignsingle nucleotide variantBENTA disease|Severe combined immunodeficiency due to CARD11 deficiency|Severe combined immunodeficiency due to CARD11 deficiency|Immunodeficiency 11b with atopic dermatitis|BENTA disease
- rs61731201Benignsingle nucleotide variantBENTA disease|Severe combined immunodeficiency due to CARD11 deficiency
- rs147422861Likely benignsingle nucleotide variantSevere combined immunodeficiency due to CARD11 deficiency|BENTA disease
- rs3735124Not classifiedsynonymous_variant
Other listed variants
- rs1183080
- rs1628709
- rs1843933
- rs2029279
- rs2301921
- rs2527506
- rs2679258
- rs2894774
- rs2894775
- rs3735126
- rs6461796
- rs6947877
- rs6949660
- rs6970813
- rs7780254
- rs7806365
- rs10280353
- rs11768944
- rs11976212
- rs12536808
- rs13245486
- rs35570514
- rs41346845
- rs41374149
- rs41405151
- rs62439322
- rs67912846
- rs73040015
- rs77010132
- rs77431709
- rs77514067
- rs78666929
- rs80277058
- rs115002819
- rs117314280
- rs118121339
- rs145407494
- rs183277600
- rs192377212
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.