Gene entry
TMEM216
transmembrane protein 216
- Chromosome
- 11
- Cytoband
- 11q12.2
- Variants (rsID)
- 8
TMEM216 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 11 (region 11q12.2). Its official name is “transmembrane protein 216”. The reference table lists 8 variants (rsID) for this gene.
Clinically classified variants
6 reference-table entries with clinical significance.
- rs59493015Benignsingle nucleotide variantMeckel syndrome, type 2|Joubert syndrome 2
- rs111371929Conflicting interpretationssingle nucleotide variantJoubert syndrome 2|Meckel syndrome, type 2
- rs57932685Conflicting interpretationssingle nucleotide variantJoubert syndrome|Joubert syndrome 2
- rs749351351Conflicting interpretationssingle nucleotide variantJoubert syndrome|Meckel syndrome, type 2|Joubert syndrome 2
- rs201108965Pathogenicsingle nucleotide variantJoubert syndrome 2|Meckel syndrome, type 2|Joubert syndrome|Inborn genetic diseases|TMEM216-Related Disorders|Joubert syndrome 2|Meckel syndrome, type 2
- rs755459875Pathogenicsingle nucleotide variantJoubert syndrome 2|Joubert syndrome
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.