Variant (rsID / SNP)
rs4077515
rs4077515 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CARD9. Location: chromosome 9, position 139,266,496. Clinical significance in the table: Benign.
Reference-table entries
CARD9Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 9:139266496
- Cytoband
- 9q34.3
- HGVS
- NM_052813.5(CARD9):c.35G>A (p.Ser12Asn)
- Allele change
- Missense_S12N
Associated conditions / phenotypes
Predisposition to invasive fungal disease due to CARD9 deficiency
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.