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STMN1

Synonyms
C1orf215, LAP18, Lag, OP18, PP17, PP19, PR22, SMN
External resources
Summary
This gene belongs to the stathmin family of genes. It encodes a ubiquitous cytosolic phosphoprotein proposed to function as an intracellular relay integrating regulatory signals of the cellular environment. The encoded protein is involved in the regulation of the microtubule filament system by destabilizing microtubules. It prevents assembly and promotes disassembly of microtubules. Multiple transcript variants encoding different isoforms have been found for this gene.

Variant Counts

Variant classification counts, according to ACMG guideline on all identified variants among our tested samples, are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc.) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
2,213
Likely benign
238
Benign
0

Patient Phenotypes

No patients carry pathogenic or likely pathogenic variants on STMN1 gene.

Phenotype class
Patients in 3billion (%)

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