ANKRD35

Chr 1

ankyrin repeat domain 35

NCBI Gene: 148741ENSG00000198483UniProt: Q8N283OMIM: 621505

Predicted to enable actin binding activity. [provided by Alliance of Genome Resources, Jul 2025]

OMIMResearchGenerating clinical summary…
0
Active trials
0
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.08
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.08LOEUF
pLI 0.000
Z-score 1.07
OE 0.84 (0.66–1.08)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.32Z-score
OE missense 0.96 (0.90–1.03)
532 obs / 553.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.84 (0.66–1.08)
0≤0.351.4
Missense OE?0.96 (0.90–1.03)
0≤0.61.4
Synonymous OE?1.05
0≤1.21.6
LoF obs/exp: 43 / 51.3Missense obs/exp: 532 / 553.3Syn Z: -0.57

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

ANKRD35 · 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