ANKRD52
Chr 12ankyrin repeat domain 52
Also known as: ARSC, PP6-ARS-C
Clinical highlights
Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
0
Active trials
4
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.09
LOEUF· LoF intol.
LOF
Mechanism· predicted
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Dual constrained — LoF & missense intolerant
LoF Constraint?
0.09LOEUF
pLI 1.000
Z-score 6.61
OE 0.02 (0.01–0.09)
Among the most LoF-intolerant genes (~top 3%)
Missense Constraint?
4.49Z-score
OE missense 0.50 (0.46–0.55)
324 obs / 645.1 exp
Highly missense-constrained (top ~0.1%)
Observed / Expected Ratios?
LoF OE?0.02 (0.01–0.09)
0≤0.351.4
Missense OE?0.50 (0.46–0.55)
0≤0.61.4
Synonymous OE?0.89
0≤1.21.6
LoF obs/exp: 1 / 52.8Missense obs/exp: 324 / 645.1Syn Z: 1.49
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
ANKRD52 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools