Variant (rsID / SNP)

rs147422861

rs147422861 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CARD11. Location: chromosome 7, position 2,946,283. Clinical significance in the table: Likely benign.

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Reference-table entries

CARD11Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 7:2946283
Cytoband: 7p22.2
HGVS: NM_032415.7(CARD11):c.3454G>A (p.Asp1152Asn)
Allele change: Missense_D1152N

Associated conditions / phenotypes

Severe combined immunodeficiency due to CARD11 deficiency|BENTA disease

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.