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C20orf203

Synonyms
-
External resources
Summary
The protein encoded by this gene is thought to be a human-specific protein. Currently available evidence suggests that orthologous regions in other organisms contain sequence differences that would not support production of a protein product. Genome-wide association studies have suggested the possibility that a SNP in the 3' UTR, rs17123507, could be associated with nicotine addiction. Expression of this gene may be elevated in some individuals with Alzheimer's disease.

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
2,171
Likely benign
0
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on C20orf203 gene.

Phenotype class
Patients in 3billion (%)

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