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C1S

complement C1s

HCNC Approved Symbol
C1S (HGNC:1247)
Genomic Coordinates
12:7,060,718 - 7,071,032 (12p13.31)
Synonyms
Disease Associations
This gene is associated with the following 2 diseases in OMIM.

Diagnosed Cases

1Patient

In total, 1 patient was diagnosed with a variant in the C1S gene.

Frequently observed phenotypes

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

Arthritis
 1 (100.0%)
Chilblain lesions
 1 (100.0%)
Episodic fever
 1 (100.0%)
Mild short stature
 1 (100.0%)
Skin rash
 1 (100.0%)
C1S - Gene browser | 3billion