Gene entry
TCTN1
tectonic family member 1
- Chromosome
- 12
- Cytoband
- 12q24.11
- Variants (rsID)
- 12
TCTN1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 12 (region 12q24.11). Its official name is “tectonic family member 1”. The reference table lists 12 variants (rsID) for this gene.
Clinically classified variants
9 reference-table entries with clinical significance.
- rs117896500Benignsingle nucleotide variantMeckel-Gruber syndrome|Joubert syndrome|Joubert syndrome 13
- rs118096349Benignsingle nucleotide variantJoubert syndrome|Meckel-Gruber syndrome|Joubert syndrome 13
- rs140230455Benignsingle nucleotide variantJoubert syndrome 13|Joubert syndrome|Meckel-Gruber syndrome
- rs75714509Benignsingle nucleotide variantJoubert syndrome 13|Joubert syndrome|Meckel-Gruber syndrome
- rs145478892Conflicting interpretationssingle nucleotide variantJoubert syndrome 13|Meckel-Gruber syndrome|Joubert syndrome
- rs145970332Conflicting interpretationssingle nucleotide variantJoubert syndrome 13|Joubert syndrome|Meckel-Gruber syndrome
- rs201894544Conflicting interpretationssingle nucleotide variantJoubert syndrome|Meckel-Gruber syndrome
- rs368907353Conflicting interpretationssingle nucleotide variantJoubert syndrome|Meckel-Gruber syndrome
- rs188817098Uncertain significancesingle nucleotide variantJoubert syndrome|Meckel-Gruber syndrome|Joubert syndrome 13
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.