Variant (rsID / SNP)

rs143027621

rs143027621 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TNFRSF13B. Location: chromosome 17, position 16,843,759. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

TNFRSF13BConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 17:16843759
Cytoband: 17p11.2
HGVS: NM_012452.3(TNFRSF13B):c.512T>G (p.Leu171Arg)
Allele change: Missense_L171R

Associated conditions / phenotypes

Immunodeficiency, common variable, 2

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.