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OTOR

Synonyms
FDP, MIAL1
External resources
Summary
This gene encodes a member of the melanoma-inhibiting activity gene family. The encoded protein is secreted via the Golgi apparatus and may function in cartilage development and maintenance. A frequent polymorphism in the translation start codon of this gene can abolish translation and may be associated with forms of deafness.

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
10,125
Likely benign
1,240
Benign
0

Patient phenotypes

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

Phenotype class
Patients in 3billion (%)

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