TMEM114
transmembrane protein 114
Summary
This gene encodes a glycosylated transmembrane protein that plays a role in lens and eye development. Mutations in this gene, including a t(16;22)(p13.3;q11.2) translocation, are associated with congenital and juvenile cataract disorders. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2014]
Known Variants1 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs8053655 | 16:8,586,245 | T/C | upstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.