EXOSC3 Chromosome 9

Exosome component 3
49 variants 49 Health Risk

Upload your DNA to see your personal genotypes for variants in EXOSC3.

What This Gene Does
This gene encodes a non-catalytic component of the human exosome, a complex with 3'-5' exoribonuclease activity that plays a role in numerous RNA processing and degradation activities. Related pseudogenes of this gene are found on chromosome 19 and 21. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jun 2012]
Gene Info
Gene Group
Exosome complex
Locus Type
gene with protein product
Location
9p13.2
Ensembl
ENSG00000107371
Associated Conditions (10)
Pontocerebellar hypoplasia type 1B
Inborn genetic diseases
EXOSC3-related disorder
Pontoneocerebellar hypoplasia
Hypotonia
Abnormality of the nervous system
See cases
Congenital pontocerebellar hypoplasia type 1
7 conditions
Congenital myopathy
Key Variants
RS138085418
Conflicting classifications of pathogenicity
Pontocerebellar hypoplasia type 1B, Pontocerebellar hypoplasia type 1B
Health Risk
RS138169215
Conflicting classifications of pathogenicity
Pontocerebellar hypoplasia type 1B, Pontocerebellar hypoplasia type 1B
Health Risk
RS145677716
Conflicting classifications of pathogenicity
Pontocerebellar hypoplasia type 1B, Inborn genetic diseases, Pontocerebellar hypoplasia type 1B
Health Risk
RS147135294
Conflicting classifications of pathogenicity
Pontocerebellar hypoplasia type 1B, Inborn genetic diseases, Pontocerebellar hypoplasia type 1B
Health Risk
RS148348866
Conflicting classifications of pathogenicity
Pontocerebellar hypoplasia type 1B, EXOSC3-related disorder, Inborn genetic diseases
Health Risk
RS1828679645
Conflicting classifications of pathogenicity
Pontocerebellar hypoplasia type 1B, Pontocerebellar hypoplasia type 1B
Health Risk
RS370087266
Conflicting classifications of pathogenicity
Pontocerebellar hypoplasia type 1B, Pontocerebellar hypoplasia type 1B
Health Risk
RS372128042
Conflicting classifications of pathogenicity
Pontocerebellar hypoplasia type 1B, Inborn genetic diseases, Pontocerebellar hypoplasia type 1B
Health Risk
RS373191549
Conflicting classifications of pathogenicity
Pontocerebellar hypoplasia type 1B, Pontocerebellar hypoplasia type 1B
Health Risk
RS375827861
Conflicting classifications of pathogenicity
Pontocerebellar hypoplasia type 1B, Pontocerebellar hypoplasia type 1B
Health Risk
RS549030188
Conflicting classifications of pathogenicity
Pontocerebellar hypoplasia type 1B, Pontocerebellar hypoplasia type 1B
Health Risk
RS62640002
Conflicting classifications of pathogenicity
Pontocerebellar hypoplasia type 1B, EXOSC3-related disorder, Inborn genetic diseases
Health Risk
All Variants (49)
RSID Category Clinical Significance Conditions
RS138085418 Health Risk Conflicting classifications of pathogenicity Pontocerebellar hypoplasia type 1B, Pontocerebellar hypoplasia type 1B
RS138169215 Health Risk Conflicting classifications of pathogenicity Pontocerebellar hypoplasia type 1B, Pontocerebellar hypoplasia type 1B
RS145677716 Health Risk Conflicting classifications of pathogenicity Pontocerebellar hypoplasia type 1B, Inborn genetic diseases, Pontocerebellar hypoplasia type 1B
RS147135294 Health Risk Conflicting classifications of pathogenicity Pontocerebellar hypoplasia type 1B, Inborn genetic diseases, Pontocerebellar hypoplasia type 1B
RS148348866 Health Risk Conflicting classifications of pathogenicity Pontocerebellar hypoplasia type 1B, EXOSC3-related disorder, Inborn genetic diseases
RS1828679645 Health Risk Conflicting classifications of pathogenicity Pontocerebellar hypoplasia type 1B, Pontocerebellar hypoplasia type 1B
RS370087266 Health Risk Conflicting classifications of pathogenicity Pontocerebellar hypoplasia type 1B, Pontocerebellar hypoplasia type 1B
RS372128042 Health Risk Conflicting classifications of pathogenicity Pontocerebellar hypoplasia type 1B, Inborn genetic diseases, Pontocerebellar hypoplasia type 1B
RS373191549 Health Risk Conflicting classifications of pathogenicity Pontocerebellar hypoplasia type 1B, Pontocerebellar hypoplasia type 1B
RS375827861 Health Risk Conflicting classifications of pathogenicity Pontocerebellar hypoplasia type 1B, Pontocerebellar hypoplasia type 1B
RS549030188 Health Risk Conflicting classifications of pathogenicity Pontocerebellar hypoplasia type 1B, Pontocerebellar hypoplasia type 1B
RS62640002 Health Risk Conflicting classifications of pathogenicity Pontocerebellar hypoplasia type 1B, EXOSC3-related disorder, Inborn genetic diseases
RS758230758 Health Risk Conflicting classifications of pathogenicity Pontocerebellar hypoplasia type 1B, Inborn genetic diseases, Pontocerebellar hypoplasia type 1B
RS775818894 Health Risk Conflicting classifications of pathogenicity Pontocerebellar hypoplasia type 1B, Pontocerebellar hypoplasia type 1B
RS1057518124 Health Risk Likely pathogenic —
RS1258608435 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 1B, Pontocerebellar hypoplasia type 1B
RS1325914775 Health Risk Likely pathogenic Pontoneocerebellar hypoplasia, Pontocerebellar hypoplasia type 1B, Pontocerebellar hypoplasia type 1B
RS1427979807 Health Risk Likely pathogenic Pontoneocerebellar hypoplasia, Pontoneocerebellar hypoplasia
RS2118977758 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 1B, Pontocerebellar hypoplasia type 1B
RS2489888636 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 1B, Pontocerebellar hypoplasia type 1B
RS374550999 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 1B, Pontoneocerebellar hypoplasia, Pontocerebellar hypoplasia type 1B
RS672601332 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 1B, Pontocerebellar hypoplasia type 1B
RS769374744 Health Risk Likely pathogenic Pontoneocerebellar hypoplasia, Pontocerebellar hypoplasia type 1B, Pontoneocerebellar hypoplasia
RS797045567 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 1B, Pontocerebellar hypoplasia type 1B
RS114878910 Health Risk Pathogenic Pontocerebellar hypoplasia type 1B, Pontocerebellar hypoplasia type 1B
RS1198691735 Health Risk Pathogenic Pontocerebellar hypoplasia type 1B, Pontocerebellar hypoplasia type 1B, Pontocerebellar hypoplasia type 1B
RS141138948 Health Risk Pathogenic Pontocerebellar hypoplasia type 1B, Inborn genetic diseases, Hypotonia
RS2118980158 Health Risk Pathogenic Pontocerebellar hypoplasia type 1B, Pontocerebellar hypoplasia type 1B
RS2118980242 Health Risk Pathogenic Pontocerebellar hypoplasia type 1B, Pontocerebellar hypoplasia type 1B
RS2489883308 Health Risk Pathogenic Pontocerebellar hypoplasia type 1B, Pontocerebellar hypoplasia type 1B
RS2489888242 Health Risk Pathogenic Pontocerebellar hypoplasia type 1B, Pontocerebellar hypoplasia type 1B
RS2489890955 Health Risk Pathogenic Pontocerebellar hypoplasia type 1B, Pontocerebellar hypoplasia type 1B
RS2489891724 Health Risk Pathogenic Pontocerebellar hypoplasia type 1B, Pontocerebellar hypoplasia type 1B
RS2489891748 Health Risk Pathogenic Pontocerebellar hypoplasia type 1B, Pontocerebellar hypoplasia type 1B
RS587780333 Health Risk Pathogenic Pontocerebellar hypoplasia type 1B, Pontocerebellar hypoplasia type 1B
RS672601331 Health Risk Pathogenic Pontocerebellar hypoplasia type 1B, Pontocerebellar hypoplasia type 1B
RS730882145 Health Risk Pathogenic Pontocerebellar hypoplasia type 1B, Pontocerebellar hypoplasia type 1B
RS758899003 Health Risk Pathogenic Pontocerebellar hypoplasia type 1B, Pontocerebellar hypoplasia type 1B
RS773436764 Health Risk Pathogenic Pontocerebellar hypoplasia type 1B, Pontocerebellar hypoplasia type 1B, Pontocerebellar hypoplasia type 1B
RS886041316 Health Risk Pathogenic Pontocerebellar hypoplasia type 1B, Pontoneocerebellar hypoplasia, Pontocerebellar hypoplasia type 1B
RS944335096 Health Risk Pathogenic Pontocerebellar hypoplasia type 1B, Pontocerebellar hypoplasia type 1B
RS1160669103 Health Risk Pathogenic/Likely pathogenic Pontocerebellar hypoplasia type 1B, Pontocerebellar hypoplasia type 1B
RS1296865764 Health Risk Pathogenic/Likely pathogenic Pontocerebellar hypoplasia type 1B, Pontocerebellar hypoplasia type 1B
RS1395561739 Health Risk Pathogenic/Likely pathogenic Pontoneocerebellar hypoplasia, Pontocerebellar hypoplasia type 1B, Pontoneocerebellar hypoplasia
RS1398939540 Health Risk Pathogenic/Likely pathogenic Pontocerebellar hypoplasia type 1B, Pontocerebellar hypoplasia type 1B
RS149049356 Health Risk Pathogenic/Likely pathogenic Pontoneocerebellar hypoplasia, Pontocerebellar hypoplasia type 1B, Pontoneocerebellar hypoplasia
RS2489890979 Health Risk Pathogenic/Likely pathogenic Pontocerebellar hypoplasia type 1B, Pontocerebellar hypoplasia type 1B
RS387907196 Health Risk Pathogenic/Likely pathogenic Pontocerebellar hypoplasia type 1B, 7 conditions, Congenital myopathy
RS777100034 Health Risk Pathogenic/Likely pathogenic Pontocerebellar hypoplasia type 1B, Pontocerebellar hypoplasia type 1B
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