ANKRD13C-DT

Chr 1

ANKRD13C divergent transcript

Also known as: HHLA3

ResearchGenerating clinical summary…
0
Active trials
0
Pubs (1 yr)
P/LP submissions
P/LP missense
1.83
LOEUF
Mechanism
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.83LOEUF
pLI 0.007
Z-score 0.10
OE 0.94 (0.411.83)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.20Z-score
OE missense 0.93 (0.761.15)
60 obs / 64.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.94 (0.411.83)
00.351.4
Missense OE?0.93 (0.761.15)
00.61.4
Synonymous OE?0.65
01.21.6
LoF obs/exp: 3 / 3.2Missense obs/exp: 60 / 64.5Syn Z: 1.33

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

ANKRD13C-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

No active trials found for this gene.

Search ClinicalTrials.gov →