POP1 Chromosome 8
POP1 ribonuclease P/MRP subunit
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What This Gene Does
This gene encodes the protein subunit of two different small nucleolar ribonucleoprotein complexes: the endoribonuclease for mitochondrial RNA processing complex and the ribonuclease P complex. The encoded protein is a ribonuclease that localizes to the nucleus and functions in pre-RNA processing. This protein is also an autoantigen in patients suffering from connective tissue diseases. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2009]
Gene Info
Gene Group
"Nuclear RNase P complex subunits|RNase MRP complex subunits"
Locus Type
gene with protein product
Location
8q22.2
Ensembl
ENSG00000104356
Associated Conditions (3)
Anauxetic dysplasia 2
Inborn genetic diseases
POP1-related disorder
Key Variants
RS149102421
Conflicting classifications of pathogenicity
Anauxetic dysplasia 2, Inborn genetic diseases, Anauxetic dysplasia 2
Health Risk
RS200072075
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS369456138
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS370453487
Conflicting classifications of pathogenicity
Health Risk
RS570006227
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS61743394
Conflicting classifications of pathogenicity
Inborn genetic diseases, POP1-related disorder, Inborn genetic diseases
Health Risk
RS764384479
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS766520200
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1816281097
Likely pathogenic
Anauxetic dysplasia 2, Anauxetic dysplasia 2
Health Risk
RS200575318
Likely pathogenic
Health Risk
RS2130635894
Likely pathogenic
Anauxetic dysplasia 2, Anauxetic dysplasia 2
Health Risk
RS2488055805
Likely pathogenic
Health Risk
All Variants (31)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS149102421 | Health Risk | Conflicting classifications of pathogenicity | Anauxetic dysplasia 2, Inborn genetic diseases, Anauxetic dysplasia 2 |
| RS200072075 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS369456138 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS370453487 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS570006227 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS61743394 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, POP1-related disorder, Inborn genetic diseases |
| RS764384479 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS766520200 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1816281097 | Health Risk | Likely pathogenic | Anauxetic dysplasia 2, Anauxetic dysplasia 2 |
| RS200575318 | Health Risk | Likely pathogenic | — |
| RS2130635894 | Health Risk | Likely pathogenic | Anauxetic dysplasia 2, Anauxetic dysplasia 2 |
| RS2488055805 | Health Risk | Likely pathogenic | — |
| RS1060505023 | Health Risk | Pathogenic | Anauxetic dysplasia 2, Anauxetic dysplasia 2 |
| RS1060505024 | Health Risk | Pathogenic | Anauxetic dysplasia 2, Anauxetic dysplasia 2 |
| RS1060505025 | Health Risk | Pathogenic | Anauxetic dysplasia 2, Anauxetic dysplasia 2 |
| RS1383235943 | Health Risk | Pathogenic | — |
| RS199760739 | Health Risk | Pathogenic | — |
| RS201493204 | Health Risk | Pathogenic | — |
| RS2488020334 | Health Risk | Pathogenic | — |
| RS374710242 | Health Risk | Pathogenic | — |
| RS746612913 | Health Risk | Pathogenic | — |
| RS749378397 | Health Risk | Pathogenic | — |
| RS750817485 | Health Risk | Pathogenic | — |
| RS754675958 | Health Risk | Pathogenic | — |
| RS762132704 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS764959366 | Health Risk | Pathogenic | — |
| RS769183311 | Health Risk | Pathogenic | Anauxetic dysplasia 2, Anauxetic dysplasia 2 |
| RS769812078 | Health Risk | Pathogenic | — |
| RS868622083 | Health Risk | Pathogenic | — |
| RS980507386 | Health Risk | Pathogenic | — |
| RS771454414 | Health Risk | Pathogenic/Likely pathogenic | POP1-related disorder, POP1-related disorder |