Variant (rsID / SNP)

rs141992399

rs141992399 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CARD9. Location: chromosome 9, position 139,259,592. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

CARD9Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 9:139259592
Cytoband: 9q34.3
HGVS: NM_052813.5(CARD9):c.1434+1G>C
Allele change: Silent

Associated conditions / phenotypes

Predisposition to invasive fungal disease due to CARD9 deficiency

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.