Gene entry
ABCC6
ATP binding cassette subfamily C member 6
- Chromosome
- 16
- Cytoband
- 16p13.11
- Variants (rsID)
- 89
ABCC6 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 16 (region 16p13.11). Its official name is “ATP binding cassette subfamily C member 6”. The reference table lists 89 variants (rsID) for this gene.
Clinically classified variants
28 reference-table entries with clinical significance.
- rs2238472Benignsingle nucleotide variantPseudoxanthoma elasticum|Pseudoxanthoma elasticum, forme fruste|Arterial calcification, generalized, of infancy, 2
- rs2856585Benignsingle nucleotide variantPseudoxanthoma elasticum|Pseudoxanthoma elasticum, forme fruste|Arterial calcification, generalized, of infancy, 2
- rs3213471Benignsingle nucleotide variantPseudoxanthoma elasticum|Pseudoxanthoma elasticum, forme fruste|Arterial calcification, generalized, of infancy, 2
- rs41278172Benignsingle nucleotide variantPseudoxanthoma elasticum|Finnish congenital nephrotic syndrome|Arterial calcification, generalized, of infancy, 2|Pseudoxanthoma elasticum, forme fruste
- rs41278174Benignsingle nucleotide variantPseudoxanthoma elasticum|Arterial calcification, generalized, of infancy, 2|Pseudoxanthoma elasticum, forme fruste
- rs58073789Benignsingle nucleotide variantPseudoxanthoma elasticum|Pseudoxanthoma elasticum, forme fruste|Arterial calcification, generalized, of infancy, 2
- rs58694313Benignsingle nucleotide variantPseudoxanthoma elasticum|Pseudoxanthoma elasticum, forme fruste|Arterial calcification, generalized, of infancy, 2
- rs58760581Benignsingle nucleotide variantPseudoxanthoma elasticum|Arterial calcification, generalized, of infancy, 2|Pseudoxanthoma elasticum, forme fruste
- rs59461468Benignsingle nucleotide variantPseudoxanthoma elasticum
- rs59593133Benignsingle nucleotide variantPseudoxanthoma elasticum|Arterial calcification, generalized, of infancy, 2|Pseudoxanthoma elasticum, forme fruste
- rs8058694Benignsingle nucleotide variantPseudoxanthoma elasticum|Pseudoxanthoma elasticum, forme fruste|Arterial calcification, generalized, of infancy, 2
- rs8058696Benignsingle nucleotide variantPseudoxanthoma elasticum|Arterial calcification, generalized, of infancy, 2|Pseudoxanthoma elasticum, forme fruste
- rs9924755Benignsingle nucleotide variantPseudoxanthoma elasticum|Arterial calcification, generalized, of infancy, 2|Pseudoxanthoma elasticum, forme fruste
- rs9930886Benignsingle nucleotide variantPseudoxanthoma elasticum|Pseudoxanthoma elasticum, forme fruste|Arterial calcification, generalized, of infancy, 2
- rs9940089Benignsingle nucleotide variantPseudoxanthoma elasticum|Arterial calcification, generalized, of infancy, 2|Pseudoxanthoma elasticum, forme fruste
- rs9940825Benignsingle nucleotide variantPseudoxanthoma elasticum|Arterial calcification, generalized, of infancy, 2|Pseudoxanthoma elasticum, forme fruste
- rs72653762Conflicting interpretationssingle nucleotide variantPseudoxanthoma elasticum|Arterial calcification, generalized, of infancy, 2
- rs63750402Likely pathogenicsingle nucleotide variantPseudoxanthoma elasticum
- rs28939701Pathogenicsingle nucleotide variantPseudoxanthoma elasticum|Arterial calcification, generalized, of infancy, 2|Pseudoxanthoma elasticum|Pseudoxanthoma elasticum, forme fruste
- rs63749856Pathogenicsingle nucleotide variantPseudoxanthoma elasticum|Arterial calcification, generalized, of infancy, 2|Pseudoxanthoma elasticum|Pseudoxanthoma elasticum, forme fruste
- rs63750459Pathogenicsingle nucleotide variantPseudoxanthoma elasticum|Abnormality of the eye
- rs63750759Pathogenicsingle nucleotide variantPseudoxanthoma elasticum|Arterial calcification, generalized, of infancy, 2|Pseudoxanthoma elasticum|Pseudoxanthoma elasticum, forme fruste|Arterial calcification, generalized, of infancy, 2
- rs72650700Pathogenicsingle nucleotide variantArterial calcification, generalized, of infancy, 2|Pseudoxanthoma elasticum|Pseudoxanthoma elasticum|Pseudoxanthoma elasticum, forme fruste
- rs72653706Pathogenicsingle nucleotide variantPseudoxanthoma elasticum|Arterial calcification, generalized, of infancy, 2|Cutis laxa|Papule|Arterial calcification, generalized, of infancy, 2|Pseudoxanthoma elasticum|Pseudoxanthoma elasticum, forme fruste|ABCC6-related disorder|See cases
- rs72653744Pathogenicsingle nucleotide variantPseudoxanthoma elasticum|Arterial calcification, generalized, of infancy, 2|Pseudoxanthoma elasticum|Pseudoxanthoma elasticum, forme fruste|See cases
- rs72664209Pathogenicsingle nucleotide variantPseudoxanthoma elasticum|Arterial calcification, generalized, of infancy, 2|Pseudoxanthoma elasticum|Pseudoxanthoma elasticum, forme fruste|Arterial calcification, generalized, of infancy, 2
- rs6416668Not classifiedmissense_variant
- rs7500834Not classifiedsynonymous_variant
Other listed variants
- rs169844
- rs212098
- rs1894377
- rs2239319
- rs2239324
- rs4341770
- rs4369696
- rs4780599
- rs4780600
- rs4781732
- rs4781735
- rs4781738
- rs7193932
- rs8056103
- rs8057824
- rs8062992
- rs9922834
- rs9932935
- rs11647095
- rs11866320
- rs12929610
- rs12935089
- rs55709104
- rs57695665
- rs61591776
- rs61731973
- rs73524035
- rs74246638
- rs75204343
- rs75992040
- rs76470239
- rs77054339
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.