Gene entry
TCTN2
tectonic family member 2
- Chromosome
- 12
- Cytoband
- 12q24.31
- Variants (rsID)
- 14
TCTN2 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 12 (region 12q24.31). Its official name is “tectonic family member 2”. The reference table lists 14 variants (rsID) for this gene.
Clinically classified variants
10 reference-table entries with clinical significance.
- rs138897437Benignsingle nucleotide variantMeckel syndrome, type 8|Joubert syndrome 24|Joubert syndrome|Meckel-Gruber syndrome
- rs7137946Benignsingle nucleotide variantMeckel syndrome, type 8|Joubert syndrome|Meckel-Gruber syndrome|Joubert syndrome 24
- rs117614122Conflicting interpretationssingle nucleotide variantMeckel syndrome, type 8|Joubert syndrome 24|Meckel-Gruber syndrome|Joubert syndrome
- rs139927033Conflicting interpretationssingle nucleotide variantMeckel syndrome, type 8|Joubert syndrome 24|Meckel-Gruber syndrome|Joubert syndrome
- rs141768405Conflicting interpretationssingle nucleotide variantJoubert syndrome|Meckel-Gruber syndrome
- rs144567556Conflicting interpretationssingle nucleotide variantJoubert syndrome 24|Meckel syndrome, type 8|Meckel-Gruber syndrome|Joubert syndrome
- rs149430216Conflicting interpretationssingle nucleotide variantMeckel-Gruber syndrome|Joubert syndrome|Meckel syndrome, type 8|Joubert syndrome 24
- rs187433682Conflicting interpretationssingle nucleotide variantJoubert syndrome|Meckel syndrome, type 8|Joubert syndrome 24
- rs79251326Conflicting interpretationssingle nucleotide variantJoubert syndrome|Meckel-Gruber syndrome|Meckel syndrome, type 8|Joubert syndrome 24
- rs374349989Pathogenicsingle nucleotide variantMeckel syndrome, type 8|TCTN2-Related Disorders|Meckel syndrome, type 6
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.