RAB17-DT

Chr 2

RAB17 divergent transcript

NCBI Gene: 105373958ENSG00000234949

ResearchGenerating clinical summary…
0
Active trials
0
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.85
LOEUF
—
Mechanism

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.85LOEUF
pLI 0.007
Z-score 0.04
OE 0.98 (0.42–1.85)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.03Z-score
OE missense 0.98 (0.76–1.29)
37 obs / 37.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.98 (0.42–1.85)
0≤0.351.4
Missense OE?0.98 (0.76–1.29)
0≤0.61.4
Synonymous OE?1.11
0≤1.21.6
LoF obs/exp: 3 / 3.1Missense obs/exp: 37 / 37.6Syn Z: -0.31

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

RAB17-DT · 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