NSMCE3 Chromosome 15

NSE3 component of SMC5/6 complex
2 variants 2 Health Risk

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What This Gene Does
The protein encoded by this gene is part of the SMC5-6 chromatin reorganizing complex and is a member of the MAGE superfamily. This is an intronless gene. [provided by RefSeq, May 2011]
Gene Info
Gene Group
"SMC5/6 complex|MAGE family"
Locus Type
gene with protein product
Location
15q13.1
Ensembl
ENSG00000185115
Associated Conditions (5)
Lung damage
immunodeficiency and chromosome breakage syndrome
Lung disease
immunodeficiency
and chromosome breakage syndrome
Key Variants
RS886037827
Pathogenic
Lung damage, immunodeficiency and chromosome breakage syndrome, Lung disease
Health Risk
RS199905054
Pathogenic/Likely pathogenic
Lung damage, immunodeficiency and chromosome breakage syndrome, Lung disease
Health Risk
All Variants (2)
RSID Category Clinical Significance Conditions
RS886037827 Health Risk Pathogenic Lung damage, immunodeficiency and chromosome breakage syndrome, Lung disease
RS199905054 Health Risk Pathogenic/Likely pathogenic Lung damage, immunodeficiency and chromosome breakage syndrome, Lung disease
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