TYMSOS
Chr 18Digenic dominantTYMS opposite strand RNA
Also known as: C18orf56
Primary Disease Associations & Inheritance
Dyskeratosis congenita, digenicMIM #620040
Digenic dominant
Dyskeratosis congenita, digenicMIM #620040
Digenic dominant
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.71LOEUF
pLI 0.158
Z-score 0.74
OE 0.46 (0.16–1.71)
Highly tolerant — LoF variants common in population
Missense Constraint?
0.94Z-score
OE missense 0.67 (0.53–0.87)
44 obs / 65.3 exp
Mild missense constraint
Observed / Expected Ratios?
LoF OE?0.46 (0.16–1.71)
0≤0.351.4
Missense OE?0.67 (0.53–0.87)
0≤0.61.4
Synonymous OE?0.61
0≤1.21.6
LoF obs/exp: 1 / 2.2Missense obs/exp: 44 / 65.3Syn Z: 1.64
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
TYMSOS · 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