FAM219A

Chr 9

family with sequence similarity 219 member A

Also known as: C9orf25

NCBI Gene: 203259 ENSG00000164970 UniProt: Q8IW50 OMIM: 621663

The protein encoded by FAM219A has unknown function, with only basic structural information available from homologous proteins in other species. Mutations in this gene have not been definitively associated with any recognized human disease or neurological disorder. The gene shows moderate tolerance to loss-of-function variants based on population genetic data.

OMIM ResearchSummary from RefSeq

The protein encoded by this gene has homologs that have been identified in mouse, macaque, etc organisms. Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Dec 2010]

OMIM ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.77

LOEUF

Multiple*

Mechanism· predicted