TBC1D12

Chr 10

TBC1 domain family member 12

NCBI Gene: 23232ENSG00000108239UniProt: O60347OMIM: 620003

RAB11A-binding protein that plays a role in neurite outgrowth

OMIMResearchGenerating clinical summary…
0
Active trials
1
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.60
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.60LOEUF
pLI 0.000
Z-score 3.49
OE 0.39 (0.26–0.60)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.18Z-score
OE missense 0.83 (0.75–0.91)
305 obs / 368.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.39 (0.26–0.60)
0≤0.351.4
Missense OE?0.83 (0.75–0.91)
0≤0.61.4
Synonymous OE?0.95
0≤1.21.6
LoF obs/exp: 15 / 38.4Missense obs/exp: 305 / 368.6Syn Z: 0.45

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

TBC1D12 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients