Gene entry
LTBP2
latent transforming growth factor beta binding protein 2
- Chromosome
- 14
- Cytoband
- 14q24.3
- Variants (rsID)
- 37
LTBP2 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 14 (region 14q24.3). Its official name is “latent transforming growth factor beta binding protein 2”. The reference table lists 37 variants (rsID) for this gene.
Clinically classified variants
4 reference-table entries with clinical significance.
- rs137854857Benignsingle nucleotide variantEctopia lentis 1, isolated, autosomal dominant|Weill-Marchesani syndrome|Glaucoma 3, primary congenital, D
- rs699374Benignsingle nucleotide variantWeill-Marchesani syndrome|Glaucoma 3, primary congenital, D|Weill-Marchesani syndrome 3|Microspherophakia
- rs137854862Uncertain significancesingle nucleotide variantPrimary open angle glaucoma|Glaucoma 3, primary congenital, D|Weill-Marchesani syndrome
- rs201591982Uncertain significancesingle nucleotide variantGlaucoma 3, primary congenital, D|Weill-Marchesani syndrome
Other listed variants
- rs699371
- rs862034
- rs862037
- rs862057
- rs2028377
- rs2530397
- rs3784024
- rs3815328
- rs4903247
- rs7145480
- rs8014087
- rs10873270
- rs11623580
- rs11625990
- rs34592303
- rs45468895
- rs45473602
- rs55927952
- rs61980910
- rs72732127
- rs72732146
- rs76172717
- rs77795135
- rs78169571
- rs79300315
- rs115510427
- rs117404310
- rs117613718
- rs139481866
- rs139575500
- rs191775131
- rs200392077
- rs200629871
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.