ANKRD66

Chr 6

ankyrin repeat domain 66

NCBI Gene: 100287718ENSG00000230062UniProt: B4E2M5

ResearchGenerating clinical summary…
0
Active trials
0
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.79
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.79LOEUF
pLI 0.000
Z-score -0.14
OE 1.06 (0.60–1.79)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.95Z-score
OE missense 0.76 (0.64–0.90)
94 obs / 123.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?1.06 (0.60–1.79)
0≤0.351.4
Missense OE?0.76 (0.64–0.90)
0≤0.61.4
Synonymous OE?0.79
0≤1.21.6
LoF obs/exp: 7 / 6.6Missense obs/exp: 94 / 123.9Syn Z: 1.12

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

ANKRD66 · 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