Variant (rsID / SNP)
rs34557412
rs34557412 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TNFRSF13B. Location: chromosome 17, position 16,852,187. Clinical significance in the table: Conflicting interpretations of pathogenicity; risk factor.
Reference-table entries
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity; risk factor
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:16852187
- Cytoband
- 17p11.2
- HGVS
- NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg)
- Allele change
- Missense_C104R
Associated conditions / phenotypes
Immunodeficiency, common variable, 2|Immunoglobulin A deficiency 2|Common Variable Immune Deficiency, Dominant|16 conditions|Severe SARS-CoV-2 infection, susceptibility to|Immunodeficiency, common variable, 1|Immunodeficiency, common variable, 2|Common variable agammaglobulinemia|Immunodeficiency, common variable, 2|Immunoglobulin A deficiency 2|Immunodeficiency, common variable, 1
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.