Variant (rsID / SNP)

rs56063729

rs56063729 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TNFRSF13B. Location: chromosome 17, position 16,843,084. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

TNFRSF13BBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 17:16843084
Cytoband: 17p11.2
HGVS: NM_012452.3(TNFRSF13B):c.659T>C (p.Val220Ala)
Allele change: Missense_V220A

Associated conditions / phenotypes

Immunodeficiency, common variable, 2|Common Variable Immune Deficiency, Dominant

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.