Variant (rsID / SNP)
rs2228226
rs2228226 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GLI1. Location: chromosome 12, position 57,865,821. The table records no clinical significance for this variant.
Reference-table entries
GLI1Not classified
- Variant type
- missense_variant
- Chromosome / position
- 12:57865821
- HGVS
- NM_005269.3,c.3298G>C,p.Glu1100Gln
- Allele change
- Missense_E972Q
Associated conditions / phenotypes
Leukemia, Chronic Lymphocytic|Chromosomal Triplication|Inflammatory Bowel Disease|Melanoma|Glioma|Skin Carcinoma|Glial Tumor|Heart Disease|Gallbladder Cancer
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.