Home > Gene Browser > CLNS1A

CLNS1A

Synonyms
CLCI, CLNS1B, ICln
External resources
Summary
This gene encodes a protein that functions in multiple regulatory pathways. The encoded protein complexes with numerous cytosolic proteins and performs diverse functions including regulation of small nuclear ribonucleoprotein biosynthesis, platelet activation and cytoskeletal organization. The protein is also found associated with the plasma membrane where it functions as a chloride current regulator. Pseudogenes of this gene are found on chromosomes 1, 4 and 6. Several transcript variants encoding different isoforms have been found for this gene.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
1,391
Likely benign
138
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on CLNS1A gene.

Phenotype class
Patients in 3billion (%)

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