NT5DC1
Chr 65'-nucleotidase domain containing 1
Also known as: C6orf200, LP2642, NT5C2L1
While the exact function of the protein encoded by this gene is not known, it belongs to the 5'(3')-deoxyribonucleotidase family. [provided by RefSeq, May 2010]
ResearchGenerating clinical summary…
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?
0.89LOEUF
pLI 0.000
Z-score 1.99
OE 0.57 (0.37–0.89)
Typical tolerance to LoF variation
Missense Constraint?
0.53Z-score
OE missense 0.90 (0.81–1.01)
212 obs / 235.1 exp
Mild missense constraint
Observed / Expected Ratios?
LoF OE?0.57 (0.37–0.89)
0≤0.351.4
Missense OE?0.90 (0.81–1.01)
0≤0.61.4
Synonymous OE?0.90
0≤1.21.6
LoF obs/exp: 14 / 24.7Missense obs/exp: 212 / 235.1Syn Z: 0.69
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
NT5DC1 · 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