Variant (rsID / SNP)

rs61731201

rs61731201 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CARD11. Location: chromosome 7, position 2,954,962. Clinical significance in the table: Benign.

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Reference-table entries

CARD11Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 7:2954962
Cytoband: 7p22.2
HGVS: NM_032415.7(CARD11):c.2748C>T (p.Asn916=)
Allele change: Synonymous_N916N

Associated conditions / phenotypes

BENTA disease|Severe combined immunodeficiency due to CARD11 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.