Gene entry
CCBE1
collagen and calcium binding EGF domains 1
- Chromosome
- 18
- Cytoband
- 18q21.32
- Variants (rsID)
- 96
CCBE1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 18 (region 18q21.32). Its official name is “collagen and calcium binding EGF domains 1”. The reference table lists 96 variants (rsID) for this gene.
Clinically classified variants
7 reference-table entries with clinical significance.
- rs61745250Benignsingle nucleotide variantHennekam lymphangiectasia-lymphedema syndrome 1
- rs72958116Benignsingle nucleotide variantHennekam lymphangiectasia-lymphedema syndrome 1
- rs9954602Benignsingle nucleotide variantHennekam lymphangiectasia-lymphedema syndrome 1
- rs9959080Benignsingle nucleotide variantHennekam lymphangiectasia-lymphedema syndrome 1
- rs121908254Likely pathogenicsingle nucleotide variantHennekam lymphangiectasia-lymphedema syndrome 1
- rs121908250Pathogenicsingle nucleotide variantHennekam lymphangiectasia-lymphedema syndrome 1
- rs192224843Uncertain significancesingle nucleotide variantHennekam lymphangiectasia-lymphedema syndrome 1
Other listed variants
- rs599789
- rs992026
- rs993766
- rs1560299
- rs1789475
- rs1791342
- rs1944298
- rs1944983
- rs1944988
- rs1944993
- rs2000887
- rs2195534
- rs2564486
- rs2564489
- rs2564494
- rs2851857
- rs2851871
- rs3114275
- rs4940874
- rs4998985
- rs7239796
- rs7241697
- rs8090016
- rs8092112
- rs8094515
- rs8096073
- rs8098511
- rs10503031
- rs11152171
- rs11662424
- rs11874251
- rs11875688
- rs12185444
- rs12454067
- rs12454887
- rs12955509
- rs12961264
- rs12966739
- rs17771288
- rs17779962
- rs17836213
- rs17836343
- rs28397648
- rs34946159
- rs55813951
- rs55962241
- rs55998001
- rs60092669
- rs62092934
- rs62094390
- rs62096128
- rs71357638
- rs72962188
- rs73443612
- rs73450386
- rs73963225
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.