Variant (rsID / SNP)
rs8192917
rs8192917 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GZMB. Location: chromosome 14, position 25,102,160. The table records no clinical significance for this variant.
Reference-table entries
- Variant type
- missense_variant
- Chromosome / position
- 14:25102160
- HGVS
- NM_004131.6,c.164G>A,p.Arg55Gln
- Allele change
- Missense_R43Q
Associated conditions / phenotypes
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1|Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6|Autoimmune Disease|Leukemia, Acute Myeloid|Myelodysplastic Syndrome|Subacute Sclerosing Panencephalitis|Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity|Skin Disease|Measles
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.