Variant (rsID / SNP)
rs1716
rs1716 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ITGAE. Location: chromosome 17, position 3,632,836. The table records no clinical significance for this variant.
Reference-table entries
ITGAENot classified
- Variant type
- missense_variant
- Chromosome / position
- 17:3632836
- HGVS
- NM_002208.5,c.2848C>T,p.Arg950Trp
- Allele change
- Missense_R950W
Associated conditions / phenotypes
Goiter|Graves' Disease|Gastrointestinal Stromal Tumor
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.