ANKRD18B

Chr 9

ankyrin repeat domain 18B

Also known as: bA255A11.3, bA255A11.5

NCBI Gene: 441459ENSG00000230453UniProt: A2A2Z9

ResearchGenerating clinical summary…
0
Active trials
0
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.82
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?
0.82LOEUF
pLI 0.000
Z-score 2.42
OE 0.58 (0.41–0.82)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.47Z-score
OE missense 0.94 (0.86–1.02)
400 obs / 427.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.58 (0.41–0.82)
0≤0.351.4
Missense OE?0.94 (0.86–1.02)
0≤0.61.4
Synonymous OE?0.92
0≤1.21.6
LoF obs/exp: 22 / 38.1Missense obs/exp: 400 / 427.3Syn Z: 0.74

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

ANKRD18B · 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