NSMCE3
Chr 15ARNSE3 component of SMC5/6 complex
Also known as: HCA4, LICS, MAGEG1, MAGEL3, NDNL2, NSE3
Primary Disease Associations & Inheritance
Lung disease, immunodeficiency, and chromosome breakage syndromeMIM #617241
AR
Clinical highlights
Gene-disease validity (ClinGen)
lung disease, immunodeficiency, and chromosome breakage syndrome; · ARLimitednot for standalone diagnostic reporting
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.04LOEUF
pLI 0.056
Z-score 1.51
OE 0.40 (0.18–1.04)
Highly tolerant — LoF variants common in population
Missense Constraint?
-0.33Z-score
OE missense 1.07 (0.95–1.22)
174 obs / 162.0 exp
Tolerant to missense variation
Observed / Expected Ratios?
LoF OE?0.40 (0.18–1.04)
0≤0.351.4
Missense OE?1.07 (0.95–1.22)
0≤0.61.4
Synonymous OE?1.35
0≤1.21.6
LoF obs/exp: 3 / 7.4Missense obs/exp: 174 / 162.0Syn Z: -2.32
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
NSMCE3 · 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