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SMAD5

Synonyms
DWFC, JV5-1, MADH5
External resources
Summary
The protein encoded by this gene is involved in the transforming growth factor beta signaling pathway that results in an inhibition of the proliferation of hematopoietic progenitor cells. The encoded protein is activated by bone morphogenetic proteins type 1 receptor kinase, and may be involved in cancer. Alternative splicing results in multiple transcript variants.

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
3,417
Likely benign
71
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on SMAD5 gene.

Phenotype class
Patients in 3billion (%)

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