Variant (rsID / SNP)
rs1621509
rs1621509 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CARD11. Location: chromosome 7, position 2,969,680. Clinical significance in the table: Benign.
Reference-table entries
CARD11Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 7:2969680
- Cytoband
- 7p22.2
- HGVS
- NM_032415.7(CARD11):c.1599C>T (p.Asp533=)
- Allele change
- Synonymous_D533D
Associated conditions / phenotypes
BENTA disease|Severe combined immunodeficiency due to CARD11 deficiency|Severe combined immunodeficiency due to CARD11 deficiency|Immunodeficiency 11b with atopic dermatitis|BENTA disease
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.