Variant (rsID / SNP)

rs34971035

rs34971035 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CARD9. Location: chromosome 9, position 139,265,596. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

CARD9Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 9:139265596
Cytoband: 9q34.3
HGVS: NM_052813.5(CARD9):c.324C>T (p.Asp108=)
Allele change: Synonymous_D108D

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.