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DCTN6

Synonyms
WS-3, WS3, p27
External resources
Summary
The protein encoded by this gene contains an RGD (Arg-Gly-Asp) motif in the N-terminal region, which confers adhesive properties to macromolecular proteins like fibronectin. It shares a high degree of sequence similarity with the mouse homolog, which has been suggested to play a role in mitochondrial biogenesis. The exact biological function of this gene is not known.

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
2,287
Likely benign
289
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on DCTN6 gene.

Phenotype class
Patients in 3billion (%)

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