Gene entry
EXT1
exostosin glycosyltransferase 1
- Chromosome
- 8
- Cytoband
- 8q24.11
- Variants (rsID)
- 64
EXT1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 8 (region 8q24.11). Its official name is “exostosin glycosyltransferase 1”. The reference table lists 64 variants (rsID) for this gene.
Clinically classified variants
3 reference-table entries with clinical significance.
- rs17439693Benignsingle nucleotide variantMultiple congenital exostosis
- rs119103287Pathogenicsingle nucleotide variantMultiple congenital exostosis|Exostoses, multiple, type 1
- rs119103290Pathogenicsingle nucleotide variantMultiple congenital exostosis|Exostoses, multiple, type 1
Other listed variants
- rs921957
- rs1037693
- rs2255931
- rs2451157
- rs2468139
- rs3860883
- rs4242575
- rs4478606
- rs4876395
- rs4876754
- rs4876757
- rs6988721
- rs7000499
- rs7842361
- rs10087446
- rs10089630
- rs10105753
- rs10955841
- rs10955842
- rs10955844
- rs10955850
- rs10955854
- rs11562738
- rs11986974
- rs11989463
- rs12544831
- rs12549348
- rs13255959
- rs17429936
- rs17430042
- rs17431450
- rs17431644
- rs17450403
- rs17450716
- rs17450835
- rs17453707
- rs17454043
- rs17454287
- rs17477161
- rs17479705
- rs17480277
- rs17503307
- rs17503900
- rs28357303
- rs28357311
- rs55738796
- rs62521078
- rs62522273
- rs72673934
- rs72673988
- rs73320185
- rs75456401
- rs76555305
- rs77756209
- rs79074363
- rs113774153
- rs117116316
- rs117226487
- rs117560561
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.