Home > Gene Browser > C15orf48

C15orf48

Synonyms
COXFA4L3, FOAP-11, MIR147BHG, MISTRAV, MOCCI, NMES1
External resources
Summary
This gene was first identified in a study of human esophageal squamous cell carcinoma tissues. Levels of both the message and protein are reduced in carcinoma samples. In adult human tissues, this gene is expressed in the the esophagus, stomach, small intestine, colon and placenta. Alternatively spliced transcript variants that encode the same protein have been identified.

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
437
Likely benign
4,566
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on C15orf48 gene.

Phenotype class
Patients in 3billion (%)

Have a question or need assistance? Ask here.

Send us your questions or comments related to the variant counts and/or patient phenotypes