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TMEM208

Synonyms
HSPC171, hSND2
External resources
Summary
This gene encodes a highly conserved protein which is localized in the endoplasmic reticulum (ER). The protein is linked to autophagy and ER stress. Knockdown of this gene increased autophagy and triggered ER stress. Alternative splicing results in multiple transcript variants.

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
3,579
Likely benign
346
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on TMEM208 gene.

Phenotype class
Patients in 3billion (%)

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