Gene entry
C1S
complement C1s
- Chromosome
- 12
- Cytoband
- 12p13.31
- Variants (rsID)
- 7
C1S is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 12 (region 12p13.31). Its official name is “complement C1s”. The reference table lists 7 variants (rsID) for this gene.
Clinically classified variants
4 reference-table entries with clinical significance.
- rs117907409Conflicting interpretationssingle nucleotide variantComplement component C1s deficiency|Ehlers-Danlos syndrome, periodontal type 2|Complement component C1s deficiency
- rs886040974PathogenicDeletionEhlers-Danlos syndrome, periodontal type 2|Ehlers-Danlos syndrome, periodontal type 1
- rs886040975Pathogenicsingle nucleotide variantEhlers-Danlos syndrome, periodontal type 2|Ehlers-Danlos syndrome, periodontal type 1
- rs121909582Uncertain significancesingle nucleotide variantComplement component C1s deficiency
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.